oxalates has been researched along with Metabolism--Inborn-Errors* in 106 studies
20 review(s) available for oxalates and Metabolism--Inborn-Errors
Article | Year |
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[Primary hyperoxaluria].
Primary hyperoxaluria is a rare hereditary disease. Two types have been identified. Type 1 is due to the deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase/serine: pyruvate amino-transferase whereas, in type 2, the deficiency concerns the glyoxylate reductase/D-glycerate dehydrogenase, a cytosolic enzyme present in the leucocytes and hepatocytes. In the elapsed decade, important progress in molecular biology led to the introduction of new strategies in the diagnosis and treatment of type 1 primary hyperoxaluria. However, the greater rarity of type 2 has so far prevented similar development. The present review recalls the normal metabolism of oxalic acid, details its deviations and their clinical consequences, and describes the methods of diagnosis and treatment to be presently recommended in primary hyperoxaluria. Topics: Biopsy; Diet; Glycolates; Glyoxylates; Humans; Hyperoxaluria, Primary; Ilium; Metabolism, Inborn Errors; Oxalates; Oxalic Acid; Pyruvates | 1996 |
Dietary intake, absorption, metabolism, and excretion of oxalate.
Topics: Ascorbic Acid; Diet; Glyoxylates; Humans; Hyperoxaluria; Hyperoxaluria, Primary; Intestinal Absorption; Kidney; Metabolism, Inborn Errors; Oxalates | 1990 |
Hyperoxaluria and hyperoxalemia: one more concern for the nephrologist.
Topics: Ascorbic Acid; Humans; Kidney; Kidney Failure, Chronic; Kidney Transplantation; Metabolism, Inborn Errors; Oxalates; Oxalic Acid; Peritoneal Dialysis, Continuous Ambulatory; Renal Dialysis; Thiamine Deficiency; Vitamin B 6 Deficiency | 1985 |
[Recurrence of the original disease in the transplanted kidney].
Recurrence of the original disease in the transplanted kidney is observed in 5.6%-9.3% of the patients. However, the clinical significance of recurrence is often minor. Diagnosis is easy in diseases with specific renal lesions, e.g., in dense deposit disease and IgA-nephropathy, but may be difficult if such a marker is missing. Recurrence is of special clinical importance in the following conditions: Membranoproliferative GN type I (in 33%, often severe) and type II (= dense deposit disease, recurrence in 90%, often minor), focal segmental glomerulosclerosis (in 48% of patients with a rapid course (less than 3 years) and in 12% of patients with a longer duration of the original disease; often severe), membranous nephropathy (recurrence rather rare, but often serious), and primary hyperoxaluria (in 100%). Mesangial IgA deposits recur in half of the patients with IgA-nephropathy and anaphylactoid purpura, but clinical findings are often minimal. Recurrence in anti-GBM-nephritis and SLE is rare. The study of recurrence may contribute to a better understanding of many renal diseases. Topics: Anti-Glomerular Basement Membrane Disease; Glomerulonephritis; Glomerulosclerosis, Focal Segmental; Humans; IgA Vasculitis; Kidney Diseases; Kidney Transplantation; Lupus Erythematosus, Systemic; Metabolism, Inborn Errors; Nephritis, Hereditary; Oxalates; Oxalic Acid; Recurrence | 1984 |
Oxalosis in infancy.
Two cases of oxalosis in infancy are reported, the diagnosis and therapy are discussed and the world literature reviewed. Oxalosis in infancy is a rare condition, probably most frequently caused by a fulminant form of the autosomal recessive type I primary hyperoxaluria. It presents symptoms of renal failure in early infancy. This is progressive and usually causes death within three months after the onset of symptoms. The diagnosis can be suspected after simple procedures (abdominal roentgenogram, urinary tract ultrasonography) and confirmed by urine/plasma analysis and kidney biopsy/bone marrow aspiration. An exact diagnosis is important since it has consequences concerning genetic counseling and treatment. Dialysis and transplantation may be useful in secondary oxalosis, but until now they are hard to justify in infantile primary oxalosis. In primary hyperoxaluria (type I), pyridoxine therapy gives hopeful results before the onset of oxalosis, but unsatisfactory results after the onset of oxalosis. Topics: Consanguinity; Diagnosis, Differential; Female; Humans; Infant; Infant, Newborn; Kidney Failure, Chronic; Male; Metabolism, Inborn Errors; Oxalates; Pedigree; Pyridoxine; Ultrasonography | 1984 |
Transplantation in relation to the treatment of inherited disease.
Topics: alpha 1-Antitrypsin Deficiency; Amyloidosis; Bone Marrow Transplantation; Fabry Disease; Gaucher Disease; Genetic Diseases, Inborn; Gout; Granulomatous Disease, Chronic; Hemoglobinopathies; Hemophilia A; Hepatolenticular Degeneration; Humans; Immunologic Deficiency Syndromes; Kidney Transplantation; Leukodystrophy, Metachromatic; Liver Transplantation; Lymphocytes; Metabolism, Inborn Errors; Mucopolysaccharidoses; Nephritis, Hereditary; Niemann-Pick Diseases; Osteopetrosis; Oxalates; Oxalic Acid; Transplantation; Tyrosine; Uremia | 1984 |
Oxalic acid and the hyperoxaluric syndromes.
Topics: Adult; Animals; Calcium; Child; Diet; Humans; Kidney Calculi; Metabolism, Inborn Errors; Oxalates; Syndrome | 1978 |
Histopathological occurrence and characterisation of calcium oxalate: a review.
Oxalosis is the histological manifestation of a number of diverse clinicopathological states involving abnormalities of both endogenous and exogenous oxalate. Crystalline deposits of calcium oxalate, usually first detected by their birefringence, may be characterised by a combination of their physical and tinctorial properties. Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Crystallization; Female; Glyoxylates; Hot Temperature; Humans; Infant; Intestinal Diseases; Kidney Diseases; Male; Metabolic Diseases; Metabolism, Inborn Errors; Middle Aged; Oxalates; Solubility; Staining and Labeling | 1977 |
Metabolic causes of renal stone formation.
Topics: Adenine Phosphoribosyltransferase; Cystinuria; Glycogen Storage Disease Type I; Humans; Hypoxanthine Phosphoribosyltransferase; Kidney Calculi; Metabolism, Inborn Errors; Orotic Acid; Oxalates; Ribose-Phosphate Pyrophosphokinase; Uric Acid; Xanthine Oxidase; Xanthines | 1977 |
Inherited biochemical defects affecting the kidney.
The identification of a disease entity as one that is the result of a heritable defect offers the physician an opportunity to intervene in a variety of ways. As emphasized, knowledge of the heritable pattern of a particular disease allows the physician an opportunity to counsel family members in personal disease risk and the offspring. Such genetic counseling results in a reduction of affected cases for many inherited diseases. There is every expectation that similar approaches would be effective for inherited renal diseases. The heritable diseases are a favored group for investigative purposes since these diseases result from a single gene defect no matter how plieotropic the effects of that defect. Thus the investigator is capable of constant probing with tools available for identifying that one event or component that lies at the basis of the disease. The emphasis of this chapter is on those inherited renal diseases for which we have reached a high level of understanding of this single defect. In many of these diseases a single enzyme is identified as deficient and is the presumed genetic defect. In others (cystinuria, RTA, and cystinosis) the precise biochemical answers appear close at hand. Thus a variety of therapeutic approaches to overcome either the gene defect or ill effects of the gene defect emerge for diseases involving the kidney and are listed in Table 7. For some of these diseases the new diagnostic technique of prenatal diagnosis can be used (Table 8). This genetic option provides couples at risk for bearing affected offspring with reduced risk. For a number of other diseases that are not identified by amniocentesis, this risk can be effectively lowered to acceptable levels by use of artificial insemination. Thus the inherited diseases of the kidney are amenable to medical intervention at a variety of levels. Such intervention can predictably lead to a lowering of both the incidence and consequences of these gene defects. Topics: Acidosis, Renal Tubular; Adult; Child; Chromosome Aberrations; Chromosome Disorders; Cystinosis; Cystinuria; Diabetes Insipidus; Fanconi Syndrome; Female; Genes, Dominant; Genes, Recessive; Glycosphingolipids; Humans; Infant, Newborn; Kidney; Kidney Diseases; Kidney Diseases, Cystic; Lesch-Nyhan Syndrome; Lipid Metabolism, Inborn Errors; Male; Metabolism, Inborn Errors; Middle Aged; Nephritis; Orotic Acid; Oxalates; Polycystic Kidney Diseases; Pseudohypoparathyroidism; Sex Chromosome Aberrations; Xanthines | 1976 |
[Inborn errors of metabolism and their significance in urology and nephrology].
Topics: Acidosis, Renal Tubular; Alkaptonuria; Cystinuria; Diabetes Insipidus; Female; Glycine; Gout; Humans; Hyperlipidemias; Hyperparathyroidism; Kidney Diseases; Lesch-Nyhan Syndrome; Male; Metabolism, Inborn Errors; Nephritis, Hereditary; Oxalates; Porphyrias; Uric Acid; Urologic Diseases; Xanthines | 1976 |
The importance of bile acids in human diseases.
Topics: Bile; Bile Acids and Salts; Biological Transport; Biotransformation; Blind Loop Syndrome; Chemical Phenomena; Chemistry, Physical; Cholelithiasis; Cholestasis; Cholesterol; Diarrhea; Enterohepatic Circulation; Humans; Hyperlipidemias; Intestinal Diseases; Lipid Metabolism; Liver Diseases; Metabolism, Inborn Errors; Nephrocalcinosis; Oxalates; Pancreatitis; Stomach Ulcer | 1975 |
[Early detection of hereditary anomalies of metabolism in children (screening programs)].
Topics: Age Factors; Cysteine; Galactosemias; Glucosephosphate Dehydrogenase Deficiency; Glutamate Dehydrogenase; Histidine Ammonia-Lyase; Humans; Hyperlipidemias; Infant, Newborn; Leucine; Mass Screening; Metabolism, Inborn Errors; Oxalates; Phenylketonurias; Pyruvate Kinase; Respiratory Distress Syndrome, Newborn; Time Factors; UTP-Hexose-1-Phosphate Uridylyltransferase | 1975 |
Symposium on renal lithiasis. Medical evaluation of urolithiasis. Etiologic aspects and diagnostic evaluation.
Topics: Acidosis, Renal Tubular; Bacterial Infections; Citrates; Crystallization; Cystinuria; Diphosphates; Female; Gastrointestinal Diseases; Humans; Hypercalcemia; Hyperparathyroidism; Magnesium; Male; Metabolism, Inborn Errors; Mucoproteins; Oxalates; Quaternary Ammonium Compounds; Sarcoidosis; Solubility; Uric Acid; Urinary Calculi; Vitamin D; Xanthine Oxidase | 1974 |
[Primary hyperoxaluria].
Topics: Alcohol Oxidoreductases; Carboxy-Lyases; Child, Preschool; Cytoplasm; Diagnosis, Differential; Glyceric Acids; Glycolates; Humans; Infant; Metabolism, Inborn Errors; Oxalates; Prognosis | 1974 |
Oxalate metabolism. I.
Topics: Animals; Ascorbic Acid; Calcium; Chemical Phenomena; Chemistry; Child, Preschool; Diet; Glycine; Glycolates; Humans; Hydrogen-Ion Concentration; Isoenzymes; L-Lactate Dehydrogenase; Male; Metabolism, Inborn Errors; Mitochondria, Liver; Nutritional Physiological Phenomena; Oxalates; Rats; Solubility; Urinary Calculi | 1973 |
Detection of inborn errors of metabolism.
Topics: Amino Acids; Amniocentesis; Calcium; Chromatography; Copper; Creatinine; Erythrocytes; Female; Fetal Diseases; Glycosaminoglycans; Humans; Indoles; Infant, Newborn; Keto Acids; Leukocytes; Mass Screening; Metabolism, Inborn Errors; Methods; Oxalates; Phenylketonurias; Pregnancy; Pyruvates; Tyrosine; Urine | 1971 |
Disorders of oxalate metabolism.
Topics: Alcohol Oxidoreductases; Glyceric Acids; Glycolates; Humans; Intestinal Absorption; Kidney Calculi; Metabolic Diseases; Metabolism, Inborn Errors; Oxalates; Oxidation-Reduction; Radiography; Serine | 1968 |
Oxalic acid metabolism in man: a review.
Topics: Ascorbic Acid; Bone and Bones; Calcium; Cell Membrane Permeability; Erythrocytes; Feces; Glycine; Humans; Intestinal Absorption; Intestinal Mucosa; Kidney; Kidney Diseases; Kidney Function Tests; Liver; Metabolism, Inborn Errors; Microsomes; Mitochondria; Muscles; Oxalates; Plants, Edible; Urinary Calculi | 1968 |
[OXALOSIS].
Topics: Biopsy; Blood Chemical Analysis; Body Fluids; Child; Diagnosis; Humans; Hyperoxaluria; Infant; Infant, Newborn; Metabolism, Inborn Errors; Oxalates; Urine | 1964 |
86 other study(ies) available for oxalates and Metabolism--Inborn-Errors
Article | Year |
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[Radiological characteristics of primary hyperoxaluria with oxalosis].
Oxalosis is a rare disorder, in which there are widely and evenly spread deposits of oxalate crystals in the kidneys with progressive renal failure. An inborn error of metabolism is the cause of oxalosis. The incidence of this disease in boys and girls is practically equal. Most patients do not survive their 20th year. In our case there were changes in the skeleton and extensive deposits of oxalates in the kidneys. Topics: Child; Humans; Hyperoxaluria; Hyperoxaluria, Primary; Male; Metabolism, Inborn Errors; Nephrocalcinosis; Oxalates; Radiography; Ureteral Calculi | 1989 |
Urinary organic acids: isolation and quantification for routine metabolic screening.
A method for isolating organic acids from acidified urine on an equivolume mixture of Porapak Q and Porapak T is described, and results are compared with extraction with ethyl acetate and ion exchange on DEAE-Sephadex. Average recoveries of 14C-labeled oxalic acid, lactic acid, succinic acid, alpha-ketoglutaric acid, citric acid, and cinnamic acid were equal to or better than those obtained with the solvent-extraction method. The ion-exchange method gave higher recoveries for oxalic acid, lactic acid, and citric acid. The quantification of separated acids from reconstructed mass spectrometric ion traces is compared with quantification from the simultaneously recorded flame ionization detector response signals. A good correlation was obtained. With the present routine metabolic screening method we have detected several patients with inborn errors of metabolism. Topics: Acetates; Carboxylic Acids; Cinnamates; Citrates; Citric Acid; Gas Chromatography-Mass Spectrometry; Humans; Ketoglutaric Acids; Lactates; Lactic Acid; Metabolism, Inborn Errors; Oxalates; Oxalic Acid; Succinates; Succinic Acid | 1987 |
Primary hyperoxaluria type I: oxalate and glycolate unsuitable for prenatal diagnosis.
Topics: Amniotic Fluid; Evaluation Studies as Topic; Female; Fetal Diseases; Glycolates; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Oxalates; Pregnancy; Prenatal Diagnosis | 1986 |
Radiological aspects of primary hyperoxaluria.
Primary hyperoxaluria is a rare metabolic disorder characterized by excessive synthesis and urinary excretion of oxalate. Nephrocalcinosis with or without calcium oxalate nephrolithiasis leads to renal failure in infancy through young adulthood. Oxalosis is the condition in which the highly insoluble calcium oxalate crystals are deposited in extrarenal tissues including bone, blood vessels, heart, and the male urogenital system. The radiographic abnormalities in 14 patients with primary hyperoxaluria are described. These abnormalities include nephrolithiasis, nephrocalcinosis, dense vascular calcifications, abnormal bone density, and characteristic metaphyseal abnormalities. Changes of renal osteodystrophy and pathologic fractures are common. Radiographic bone abnormalities are dependent on the age of the patient when renal failure occurred and the degree of success of renal transplantation. Characteristic skeletal changes are present in six of seven patients who developed renal failure when less than 7 years of age. Topics: Adolescent; Adult; Calcinosis; Child; Child, Preschool; Female; Fractures, Spontaneous; Humans; Infant; Kidney Calculi; Male; Metabolism, Inborn Errors; Nephrocalcinosis; Oxalates; Radiography; Vascular Diseases | 1986 |
[Primary hyperoxaluria in a 6-month-old infant: a radiological and sonographic diagnosis?].
Topics: Acute Kidney Injury; Humans; Infant; Kidney; Male; Metabolism, Inborn Errors; Nephrocalcinosis; Oxalates; Ultrasonography; Urography | 1985 |
[Metabolic nephropathy with oxalate-calcium crystalluria in children].
Topics: Calcium; Child; Crystallization; Humans; Kidney Diseases; Kidney Function Tests; Metabolism, Inborn Errors; Oxalates; Oxalic Acid | 1985 |
Primary hyperoxaluria (type I): attempted treatment by combined hepatic and renal transplantation.
A case is reported of a patient with renal failure and developing systemic and renal oxalosis due to pyridoxine-resistant type I primary hyperoxaluria. In spite of vigorous haemodialysis and hydration before and after operation, an allografted cadaveric kidney failed because of oxalate deposits in the transplant. The patient was treated by combined hepatic and renal transplantation. The liver allograft functioned well but the kidney had poor function due to primary acute tubular necrosis aggravated by steroid-associated acute pancreatitis, systemic cytomegalovirus infection and high cyclosporin A levels. The patient died from generalised cytomegalovirus infection. The early course after operation was associated with a reduced rate of oxalate production, which would slow the rate of oxalate deposition in the tissues. The size of the oxalate metabolic pool was also diminished. These observations are compatible with the grafted liver having corrected the metabolic lesion. Topics: Child; Glomerular Filtration Rate; Humans; Kidney Transplantation; Liver Transplantation; Male; Metabolism, Inborn Errors; Oxalates | 1985 |
Response to a physiologic dose of pyridoxine in type I primary hyperoxaluria.
We measured urinary oxalate and glycolate excretion before and during pyridoxine administration (2 to 200 mg per day) in four patients with primary hyperoxaluria. In two patients with type I primary hyperoxaluria, urinary oxalate and glycolate excretion fell markedly in response to a physiologic dose of pyridoxine of 2 mg per day and became completely normal when the dose was increased to 25 mg per day. In the other two patients, who had a different type of primary hyperoxaluria (normal urinary glycolate excretion), there was no response to 2 mg of pyridoxine per day. In one of these patients, doses of 25 and 50 mg per day were also ineffective, but a moderate reduction in oxalate excretion took place with 200 mg per day; in the other patient there was a moderate reduction in oxalate excretion with 25 mg of pyridoxine per day. Our findings suggest that the degree of hyperoxaluria in this disorder may be only slight or moderate if the patient has been ingesting a pyridoxine-rich diet or multivitamin tablets containing small amounts of pyridoxine. Our results also suggest that smaller doses of pyridoxine than those heretofore employed should be tried in patients with primary hyperoxaluria. Topics: Child; Female; Glycolates; Humans; Kidney Calculi; Metabolism, Inborn Errors; Oxalates; Oxalic Acid; Pyridoxine | 1985 |
The fate of a child with primary hyperoxaluria (oxalosis).
The case of a male child with primary hyperoxaluria type I is reported. In spite of many therapeutic trials, haemodialysis treatment for several years and renal transplantation at the age of 11 years, the patient died after the transplanted kidney had failed. Topics: Child; Child, Preschool; Humans; Infant; Male; Metabolism, Inborn Errors; Oxalates | 1984 |
[Oxalosis--a hereditary metabolic disease as a cause of terminal renal insufficiency].
Topics: Adolescent; Adult; Female; Humans; Kidney Failure, Chronic; Male; Metabolism, Inborn Errors; Oxalates | 1984 |
Ocular involvement in primary hyperoxaluria.
Ocular involvement from primary hyperoxaluria developed in one infant and one teenaged patient. Autopsy procedures in the first case used special histopathologic staining techniques to demonstrate a wider deposition of calcium oxalate crystals within the eye than was previously suspected. Clinical photographs and fluorescein angiograms in the older patient demonstrated a widespread retinal distribution of crystals with a periarterial predilection. This patient also demonstrated a unique acquired black macular lesion. Topics: Adolescent; Eye Diseases; Female; Fluorescein Angiography; Humans; Infant; Male; Metabolism, Inborn Errors; Oxalates; Retina | 1984 |
Renal failure with hypercalcemia, renal stones, multiple pathologic fractures, and growth failure.
Topics: Child, Preschool; Female; Fractures, Spontaneous; Growth Disorders; Humans; Hypercalcemia; Kidney Calculi; Kidney Failure, Chronic; Metabolism, Inborn Errors; Oxalates; Oxalic Acid | 1983 |
Primary hereditary oxalosis retinopathy.
A female infant had progressive atypical pigmentary retinopathy with type 1 hereditary oxalosis. At the age of 3 months she had a flecked retina type of retinopathy and six months later she exhibited a unique type of atypical pigmentary retinopathy. This latter abnormality was characterized by a dense parafoveal hyperpigmented ring five disc diameters in size, and composed of a confluence of small rings of hyperpigmented retinal pigment epithelium surrounding whitish highly refractile calcium oxalate crystalline deposits. Topics: Female; Humans; Infant; Metabolism, Inborn Errors; Oxalates; Retinal Diseases | 1983 |
Primary oxalosis presenting as anuric renal failure in infancy: diagnosis by x-ray diffraction of kidney tissue.
Topics: Acute Kidney Injury; Anuria; Diagnosis, Differential; Female; Humans; Infant; Kidney; Metabolism, Inborn Errors; Oxalates; X-Ray Diffraction | 1983 |
[Diffuse oxalosis in a 62 year old man (author's transl)].
Topics: Humans; Male; Metabolism, Inborn Errors; Middle Aged; Oxalates | 1982 |
[Kidney findings in congenital metabolic disorders].
Topics: Cystinosis; Humans; Kidney; Lecithin Cholesterol Acyltransferase Deficiency; Metabolism, Inborn Errors; Oxalates | 1982 |
Long-term survival of a renal allograft in a patient with primary hyperoxaluria (type I).
Topics: Adult; Humans; Kidney Failure, Chronic; Kidney Transplantation; Male; Metabolism, Inborn Errors; Oxalates; Tissue Survival; Transplantation, Homologous | 1981 |
Determination of oxalic acid clearance and plasma concentration by radioisotope infusion. Results in a family with hyperoxaluria.
The renal clearance of 14C-oxalate was studied in a family with two children suffering from primary hyperoxaluria. The 14C-oxalate/creatinine clearance ratio ranged from 1.8 to 2.6 (mean 2.0) and appeared to be independent of the glomerular filtration rate. The calculated plasma oxalate concentrations in the three normo-oxaluric subjects ranged from 0.1 to 0.9 mumol/l, whereas values of 3.2 and 16.3 mumul/l were found in the two hyperoxaluric subjects. In the latter patient, the oxalate production decreased and the clearance increased after vitamin B6 treatment, resulting in a drop in the oxalate plasma level to 5.3 mumol/l. The apparent distribution volumes, expressed as percentage of body weight, ranged from 30 to 47% (mean 35). The mean biological half-life of 14C-oxalate was 2.7 hours in the subjects with normal renal function and increased with impairment of renal function. The recovery of 14C in the urine ranged from 87 to 112% (mean 101); all 14C activity was recovered as oxalate. Topics: Adolescent; Carbon Radioisotopes; Child; Female; Half-Life; Humans; Infant; Kidney; Male; Metabolism, Inborn Errors; Middle Aged; Oxalates; Pyridoxine | 1981 |
[Arthropathy in primary oxalosis--crystal synovitis or osteopathy? (author's transl)].
Topics: Adult; Diagnosis, Differential; Gout; Hand; Humans; Joint Diseases; Male; Metabolism, Inborn Errors; Oxalates; Radiography | 1981 |
Some observations on genetic factors in urolithiasis.
In an attempt to detect genetic factors linked with urolithiasis, a study based on medical and genetic data and on several biochemical procedures was done on 50 stone formers and on 50 controls. Genetic factors likely to be related to stone forming were found in 4 patients: 2 cases of incomplete renal tubular acidosis, and 2 cases of heterozygous cystinuria. A study of the families of 3 of these individuals revealed 4 additional cases of genetically determined metabolic diseases. Despite the small number of patients for whom genetic factors were determined and the fact that the lithiasis cases with and without family recurrence showed similar behavior with respect to the different biochemical parameters studied, the presence of genetic factors is suggested by the significantly more frequent family history of lithiasis found for stone formers than for the controls. Identifying the cases with family recurrence, in which stone formation occurs earlier and is more frequently recurrent, and the stone-forming patients with genetically determined metabolic disorders, which may benefit from specific measures, will probably contribute to a better prognosis for these patients. Topics: Acidosis, Renal Tubular; Adolescent; Adult; Blood Chemical Analysis; Child; Cystinuria; Female; Humans; Male; Metabolism, Inborn Errors; Oxalates; Urinary Calculi | 1981 |
Primary hyperoxaluria.
Topics: Humans; Kidney Failure, Chronic; Kidney Transplantation; Metabolism, Inborn Errors; Oxalates; Pyridoxine; Renal Dialysis; Transplantation, Homologous | 1980 |
[Primary hyperoxaluria in the child].
Topics: Child; Humans; Metabolism, Inborn Errors; Oxalates | 1979 |
Studies on some possible biochemical treatments of primary hyperoxaluria.
The effects of some putative inhibitors of oxalate production or urinary oxalate excretion have been investigated in the Cynamolgus monkey and in patients with Type I primary hyperoxaluria (hyperoxaluria with glycollic aciduria). Sodium-1-hydroxybutan-sulphonate, D,L-phenyllactate, succinimide and isocarboxazide did not reduce the urinary oxalate excretion in the monkeys. Pyridoxine reduced the excretion of oxalate and glycollate in some patients, and its therapeutic use has been documented over a five-year period. Succinimide, which has been used by other workers for the treatment of non-hyperoxaluric stone formers, did not decrease the excretion of either oxalate or glycollate in three patients in whom it was tried. It did not change the inhibitory activity of the urine with respect to the growth and aggregation of calcium oxalate crystals in any of the three patients, and it did not have any consistent effect on the excretion of calcium oxalate crystals in the one patient who had detectable crystaluria before treatment. We have identified several metabolites of succinimide in the urine of patients taking the drug. These include 2,3-dehydrosuccinamic, 2-hydroxysuccinamic and 3-hydroxysuccinamic acids. Isocarboxazide, cholestyramine and thiamine did not affect the urinary oxalate excretion in the patients. The significance of these observations from the viewpoint of the treatment of primary hyperoxaluria is discussed. Topics: Adolescent; Adult; Animals; Child; Cholestyramine Resin; Female; Haplorhini; Humans; Isocarboxazid; Macaca fascicularis; Male; Metabolism, Inborn Errors; Oxalates; Pyridoxine; Succinimides; Thiamine | 1979 |
[Angiopathy in a case of primary oxalosis combined with familial spherocytosis (author's transl)].
An 18-year-old female with primary oxalosis, seen first when she was in advanced renal failure, developed a severe necrotizing angiopathy which began after a rapid decrease in renal function requiring chronic dialysis. Because of the severe angiopathy the preliminary diagnosis of an acute autoimmune vasculitis had been made. The correct diagnosis was revealed by renal biopsy and a renal transplantation performed. Soon after severe oxalosis led to failure of the renal transplant and death. The patient had also had familial spherocytosis, inherited from her father, while the oxalosis had been inherited from her mother. It is suggested that early transplantation at the onset of renal failure, as long as the blood oxalate level is still tolerably low, may give better results than have so far been reported. Topics: Adolescent; Female; Humans; Kidney Calculi; Kidney Failure, Chronic; Kidney Transplantation; Metabolism, Inborn Errors; Oxalates; Spherocytosis, Hereditary; Vascular Diseases | 1979 |
Adult systemic oxalosis presenting as acute renal failure.
Topics: Acute Kidney Injury; Adult; Humans; Male; Metabolism, Inborn Errors; Oxalates | 1979 |
[Dentomaxillary destructions in oxalosis].
Oxalosis, a rare metabolic disorder, leads to excessive formation of oxalate and deposition of calcium oxalate crystals in the tissue. This leads to renal insufficiency with resulting secondary hyperparathyroidism and myelofibrosis. In a 27 year old female patient, extensive destruction of the maxilla, mandible and teeth was observed which has not yet been described and which led to the loss of all teeth. Topics: Adult; Alveolar Process; Bone Resorption; Humans; Hyperparathyroidism; Jaw Diseases; Kidney Calculi; Kidney Failure, Chronic; Metabolism, Inborn Errors; Oxalates; Tooth Mobility; Tooth Resorption; Tooth Root | 1977 |
[Primary hyperoxaluria in children].
Topics: Child; Child, Preschool; Glyoxylates; Humans; Male; Metabolism, Inborn Errors; Oxalates | 1977 |
[Metabolic, clinical and dietetic aspects of various types of hyperoxaluria].
Topics: Calcinosis; Humans; Kidney Calculi; Metabolic Diseases; Metabolism, Inborn Errors; Oxalates | 1977 |
Letter: Vitamin-C-induced hyperoxaluria.
Topics: Adolescent; Adult; Ascorbic Acid; Child; Female; Humans; Male; Metabolism, Inborn Errors; Oxalates | 1976 |
[Primary hyperoxaluria. Clinical, histological and crystallographic study of the ocular lesions].
A post-mortem histological examination of the eyes of a case of primary hyperoxaluria revealed the presence of crystals in the ciliary processes and at the level of the retinal pigment epithelium. The crystallography study demonstrated that it consisted of wewhellite. The ocular lesions are compared with those found by other authors in primary hyperoxaluria, after prolonged methoxyflurane anaesthesia, after experimental administration of dibutyloxalic acid or naphthalene, and in the human retina in longstanding detachments. Most of the factors which give rise to the presence in the eye of oxalate and its selective precipitation in the midst of certain ocular tissues remain hypothetical. The retinal lesions observed in primary hyperoxaluria appear to be pathognomonic for hyperoxalaemia. Topics: Adult; Animals; Ciliary Body; Electron Probe Microanalysis; Eye; Eye Manifestations; Humans; Inclusion Bodies; Male; Metabolism, Inborn Errors; Methoxyflurane; Microscopy, Electron, Scanning; Microscopy, Polarization; Naphthalenes; Oxalates; Pigment Epithelium of Eye; Rabbits; Retinal Detachment; X-Ray Diffraction | 1976 |
Primary oxalosis with myocardial involvement and heart block.
An unusual case is described of primary oxalosis with renal failure and cardiac involvement with complete heart block. Although cardiac involvement rarely occurs, it nevertheless requires evaluation because of the therapeutic implications. Topics: Heart Block; Heart Diseases; Humans; Male; Metabolism, Inborn Errors; Middle Aged; Oxalates | 1976 |
Oxalosis. An unusual cause of myelophthisis in childhood.
In a child with renal failure and oliguria due to hyperoxaluria myelophthisis developed as a result of extensive bone-marrow replacement with calcium oxalate crystals and an accompanying fibrous proliferations. The histopathology associated with this metabolic disorder was demonstrated in posterior iliac crest bone-marrow trephine biopsies, renal biopsies, and nephrectomy specimens. Crystals were demonstrated in biopsy specimens of transplanted kidneys within six weeks following renal transplantation. Topics: Anemia, Myelophthisic; Bone Marrow; Child, Preschool; Female; Humans; Kidney; Kidney Calculi; Metabolism, Inborn Errors; Oxalates | 1976 |
[Adverse effect of muscle relaxants and narcotics in hereditary diseases (literature survey)].
Topics: Arrhythmias, Cardiac; Barbiturates; Butyrylcholinesterase; Drug Synergism; Drug Tolerance; Dysautonomia, Familial; Genetic Diseases, Inborn; Humans; Hyperbilirubinemia, Hereditary; Jaundice; Kidney Calculi; Malignant Hyperthermia; Metabolism, Inborn Errors; Narcotics; Nephrocalcinosis; Osteogenesis Imperfecta; Oxalates; Paralyses, Familial Periodic; Pharmacogenetics; Porphyrias; Succinylcholine | 1976 |
Progressive peripheral neuropathy in patient with primary hyperoxaluria.
In a patient suffering from primary hyperoxaluria with oxalosis a progressive peripheral neuropathy was associated with intra-axonal deposition of microcrystals of calcium oxalate. Probably his neuropathy was the result of mechanical obstruction of axoplasmic flow. Topics: Adult; Autopsy; Axonal Transport; Heart Arrest; Humans; Male; Metabolism, Inborn Errors; Muscles; Oxalates; Paresthesia; Peripheral Nerves; Peripheral Nervous System Diseases; Renal Dialysis; Uremia | 1975 |
[Primary hyperoxaluria type I].
Topics: Carboxy-Lyases; Glyceric Acids; Glyoxylates; Humans; Ketoglutaric Acids; Metabolism, Inborn Errors; Oxalates | 1975 |
[Primary hyperoxaluria type II].
Topics: Alcohol Oxidoreductases; Glyceric Acids; Humans; Metabolism, Inborn Errors; Oxalates | 1975 |
Deposition of calcium oxalate in the skin in two patients suffering from oxalosis caused by primary hyperoxaluria.
Topics: Adult; Biopsy; Female; Heart Diseases; Hematuria; Humans; Metabolism, Inborn Errors; Oxalates; Raynaud Disease; Skin; Urinary Tract Infections | 1974 |
Renal transplantation in primary hyperoxaluria.
Topics: Acute Kidney Injury; Adult; Biopsy; Cadaver; Child; Graft Rejection; Humans; Kidney; Kidney Function Tests; Kidney Transplantation; Male; Metabolism, Inborn Errors; Middle Aged; Nephrectomy; Oxalates; Postoperative Complications; Pyridoxine; Time Factors; Transplantation, Homologous | 1974 |
Primary hyperoxaluria and renal transplantation.
Topics: Biopsy; Cadaver; Child, Preschool; Female; Graft Rejection; Humans; Immunosuppressive Agents; Kidney; Kidney Transplantation; Metabolism, Inborn Errors; Nephrocalcinosis; Oxalates; Peritoneal Dialysis; Transplantation, Homologous | 1974 |
Primary hyperoxaluria, treated with haemodialysis and kidney transplantation.
Topics: Adult; Autopsy; Biopsy; Cadaver; Creatinine; Female; Humans; Kidney Calculi; Kidney Failure, Chronic; Kidney Transplantation; Metabolism, Inborn Errors; Oxalates; Renal Dialysis; Transplantation, Homologous | 1974 |
Successful renal transplantation in hyperoxaluria.
Topics: Acute Kidney Injury; Adult; Cadaver; Female; Fundus Oculi; Humans; Hydrochlorothiazide; Kidney Calculi; Kidney Cortex; Kidney Transplantation; Metabolism, Inborn Errors; Methylene Blue; Oxalates; Pyelonephritis; Pyridoxine; Transplantation, Homologous; Urinary Tract Infections | 1974 |
The identification of the enzymes that catalyse the oxidation of glyoxylate to oxalate in the 100000 g supernatant fraction of human hyperoxaluric and control liver and heart tissue.
Topics: Adolescent; Carbon Isotopes; Child, Preschool; Chromatography, DEAE-Cellulose; Chromatography, Gel; Electrophoresis, Polyacrylamide Gel; Female; Glyoxylates; Humans; In Vitro Techniques; L-Lactate Dehydrogenase; Liver; Male; Metabolism, Inborn Errors; Myocardium; NAD; Oxalates; Oxidation-Reduction; Spectrophotometry; Xanthine Oxidase | 1973 |
Myocarditis caused by primary oxalosis in a 4-year-old child.
Topics: Autopsy; Child, Preschool; Humans; Kidney; Male; Metabolism, Inborn Errors; Myocarditis; Myocardium; Oxalates; Uremia | 1973 |
Adult-onset primary oxalosis with complete heart block.
Topics: Adult; Blood Urea Nitrogen; Bone and Bones; Cardiomyopathies; Female; Heart Block; Heart Conduction System; Heart Failure; Humans; Kidney; Kidney Calculi; Kidney Failure, Chronic; Metabolism, Inborn Errors; Myocardium; Nephrectomy; Oxalates; Pancreas; Renal Dialysis; Thyroid Gland | 1973 |
[Abnormalities of oxalate metabolism and urinary lithiasis. 1st Report. Primary hyperoxaluria: report of a case with autopsy findings (author's transl)].
Topics: Autopsy; Child; Female; Humans; Metabolism, Inborn Errors; Oxalates; Urinary Calculi | 1973 |
Familial oxalosis. Report of three cases and review of the literature.
Topics: Adolescent; Autopsy; Calcium; Cerebral Arteries; Child; Female; Histocytochemistry; Humans; Kidney; Male; Metabolism, Inborn Errors; Myocardium; Nephrocalcinosis; Oxalates; Pedigree; Ureter | 1973 |
[Microangiographic, histologic and morphometric studies on human kidney grafts].
Topics: Angiography; Arteriovenous Shunt, Surgical; Autopsy; Female; Humans; Kidney; Kidney Diseases; Kidney Transplantation; Metabolism, Inborn Errors; Microradiography; Necrosis; Nephritis; Oxalates; Postoperative Complications; Thrombosis; Transplantation, Homologous; Vascular Diseases | 1972 |
Three kidney transplantations in a patient with primary hereditary hyperoxaluria.
Topics: Adult; Autopsy; Cadaver; Creatinine; Graft Rejection; Humans; Immunosuppression Therapy; Kidney; Kidney Calculi; Kidney Transplantation; Male; Metabolism, Inborn Errors; Nephrectomy; Oxalates; Transplantation, Homologous | 1972 |
Primary hyperoxaluria (a case report).
Topics: Child; Humans; Male; Metabolism, Inborn Errors; Oxalates; Prognosis | 1972 |
Primary hyperoxaluria with normal alpha-ketoglutarate: glyoxylate carboligase activity. Treatment with isocarboxazid.
Topics: Allopurinol; Child; Female; Glycolates; Glyoxylates; Humans; Isocarboxazid; Ketoglutaric Acids; Kidney Calculi; Metabolism, Inborn Errors; Muscles; Oxalates; Pyridoxine; Uric Acid | 1972 |
[Primary hyperoxaluria: study of 4 cases].
Topics: Adult; Child; Diagnosis, Differential; Female; Humans; Male; Metabolism, Inborn Errors; Middle Aged; Oxalates; Pedigree | 1972 |
[Case of probable primary oxalosis].
Topics: Adult; Autopsy; Female; Humans; Intestine, Small; Kidney; Kidney Calculi; Lung; Metabolism, Inborn Errors; Myocardium; Oxalates; Pancreas; Parathyroid Glands; Pyelonephritis; Thyroid Gland; Trachea | 1972 |
[A case of oxalosis].
Topics: Adult; Creatinine; Humans; Hypertension; Male; Metabolism, Inborn Errors; Oxalates; Proteinuria | 1971 |
Primary hyperoxaluria.
Topics: Adolescent; Adult; Alcohol Oxidoreductases; Child; Glycolates; Glyoxylates; Humans; Kidney; Ligases; Liver; Metabolism, Inborn Errors; Nephrocalcinosis; Oxalates; Oxidoreductases; Urinary Calculi; Vitamin B 6 Deficiency; Xanthine Oxidase | 1971 |
The renal clearance of oxalate in normal subjects and patients with primary hyperoxaluria.
Topics: Adult; Carbon Isotopes; Creatinine; Humans; Kidney; Male; Metabolism, Inborn Errors; Oxalates | 1971 |
Primary oxalosis of the heart: a cause of heart block.
Topics: Adolescent; Calcium; Electrocardiography; Female; Heart Block; Heart Conduction System; Histocytochemistry; Humans; Metabolism, Inborn Errors; Oxalates | 1971 |
The possible use of methylene blue in the treatment of primary hyperoxaluria.
Topics: Administration, Oral; Adolescent; Adult; Child; Crystallization; Female; Humans; Male; Metabolism, Inborn Errors; Methylene Blue; Oxalates; Urinary Calculi; X-Ray Diffraction | 1970 |
Treatment of primary hyperoxaluria.
Topics: Acidosis, Renal Tubular; Adolescent; Adult; Bicarbonates; Calcium; Calcium, Dietary; Child; Child, Preschool; Female; Follow-Up Studies; Glyceric Acids; Humans; Hydroxides; Infant; Magnesium; Male; Metabolism, Inborn Errors; Oxalates; Phosphates; Solubility | 1970 |
[Heredity of familial oxalosis].
Topics: Adolescent; Adult; Child; Child, Preschool; Consanguinity; Female; Genes, Recessive; Humans; Infant; Male; Metabolism, Inborn Errors; Oxalates; Pedigree | 1970 |
Renal homotransplantation in a patient with primary familial oxalosis.
Topics: Adolescent; Candidiasis; Digestive System; Glyoxylates; Heart Conduction System; Histocompatibility; Humans; Kidney; Kidney Failure, Chronic; Kidney Transplantation; Male; Metabolism, Inborn Errors; Myocardium; Oxalates; Transplantation, Homologous; Uremia | 1969 |
Failure of renal transplantation in primary oxalosis.
Topics: Humans; Kidney Diseases; Kidney Transplantation; Male; Metabolism, Inborn Errors; Oxalates; Postoperative Complications; Transplantation, Homologous | 1969 |
[Endogenous oxalosis with manifestations in adults].
Topics: Adult; Arteries; Diagnosis, Differential; Female; Humans; Kidney Glomerulus; Lung; Metabolic Diseases; Metabolism, Inborn Errors; Muscle, Smooth; Oxalates; Raynaud Disease; Skin; Urogenital System | 1969 |
[Comparative examinations of concrements of the human kidney by scanning electron microscopy].
Topics: Adult; Calcinosis; Crystallography; Gout; Humans; Infant, Newborn; Infant, Newborn, Diseases; Infarction; Kidney; Male; Metabolism, Inborn Errors; Methods; Microscopy, Electron; Middle Aged; Oxalates; Uric Acid | 1969 |
[New biochemical variants of oxalosis and renued clinical interest in such diathesis].
Topics: Humans; Metabolism, Inborn Errors; Oxalates | 1969 |
[Oxalosis and hearing disorders].
Topics: Calcinosis; Hearing Disorders; Humans; Kidney Diseases; Male; Metabolism, Inborn Errors; Middle Aged; Oxalates | 1969 |
L-glyceric aciduria. A new genetic variant of primary hyperoxaluria.
Topics: Adult; Alcohol Oxidoreductases; Carbon Isotopes; Child; Child, Preschool; Clinical Enzyme Tests; Diagnosis, Differential; Female; Glyceric Acids; Glycolates; Glyoxylates; Humans; Kidney Calculi; Ligases; Male; Metabolism, Inborn Errors; Oxalates; Pyruvates | 1968 |
Molecular diagnosis.
Topics: Alcohol Oxidoreductases; Clinical Enzyme Tests; Diagnosis, Differential; Glyceric Acids; Glyoxylates; Humans; Metabolism, Inborn Errors; Oxalates | 1968 |
The identification and determination of glyceric acid in human urine.
Topics: Adult; Child; Chromatography; Colorimetry; Female; Glyceric Acids; Humans; Kidney Calculi; Male; Metabolism, Inborn Errors; Methods; Nephrocalcinosis; Optical Rotatory Dispersion; Oxalates | 1968 |
Primary hyperoxaluria.
These discussions are selected from the weekly staff conferences in the Department of Medicine, University of California Medical Center, San Francisco. Taken from transcriptions, they are prepared by Drs. Martin J. Cline and Hibbard E. Williams, Assistant Professors of Medicine, under the direction of Dr. Lloyd H. Smith, Jr., Professor of Medicine and Chairman of the Department of Medicine. Topics: Adult; Glyoxylates; Humans; Male; Metabolism, Inborn Errors; Oxalates | 1968 |
[On the forms of calcium oxalate deposits in the human kidney in oxalosis].
Topics: Adult; Calcium; Crystallography; Humans; Kidney Calculi; Kidney Tubules; Male; Metabolism, Inborn Errors; Microscopy, Electron; Nephrectomy; Oxalates | 1968 |
[Familial oxalosis. Study of 2 cases. Attempted treatment].
Topics: Adolescent; Adult; Allopurinol; Child; Child, Preschool; Female; Humans; Kidney Calculi; Male; Metabolism, Inborn Errors; Nephrocalcinosis; Oxalates | 1968 |
The conversion of [1-13C]glycine and [2-13C]glycine to [13C]oxalate in primary hyperoxaluria: evidence for the existence of more than one metabolic pathway from glycine to oxalate in man.
Topics: Adolescent; Carbon Isotopes; Female; Glycine; Glycolates; Humans; Metabolism, Inborn Errors; Oxalates; Spectrum Analysis; Time Factors | 1968 |
Isolation and characterization of an L-alanine: glyoxylate aminotransferase from human liver.
Topics: Alanine; Cellulose; Chromatography; Enzymes; Glyoxylates; Hot Temperature; Humans; In Vitro Techniques; Ketoglutaric Acids; Kinetics; Liver; Metabolism, Inborn Errors; Oxalates; Pyruvates; Transaminases | 1967 |
[Uremic oxalosis].
Topics: Adult; Aged; Female; Humans; Kidney; Male; Metabolism, Inborn Errors; Middle Aged; Myocardium; Oxalates; Uremia | 1967 |
Plasma and urinary amino acids in children with primary hyperoxaluria and in normal children.
Topics: Adolescent; Amino Acids; Child; Female; Humans; Kidney Function Tests; Male; Metabolism, Inborn Errors; Oxalates | 1967 |
[On the problem of secondary oxalosis].
Topics: Adult; Anuria; Female; Humans; Kidney; Kidney Diseases; Metabolic Diseases; Metabolism, Inborn Errors; Myocarditis; Myocardium; Oxalates; Uremia | 1967 |
Calcium carbimide in the treatment of primary hyperoxaluria.
Topics: Child; Cyanates; Diet Therapy; Humans; Kidney Failure, Chronic; Kidney Transplantation; Male; Metabolism, Inborn Errors; Oxalates; Oxidoreductases; Pyridoxine; Transplantation, Homologous | 1967 |
Deficiency of 2-oxo-glutarate: glyoxylate carboligase activity in primary hyperoxaluria.
Topics: Adult; Glomerulonephritis; Glyoxylates; Humans; In Vitro Techniques; Ketoglutaric Acids; Kidney; Kidney Failure, Chronic; Kidney Transplantation; Ligases; Liver; Metabolism, Inborn Errors; Mitochondria; Oxalates; Pyelonephritis; Spleen; Thiamine Pyrophosphate | 1967 |
[Nephrocalcinosis, primary hyperoxaluria, hypervitaminosis D. Relation of 2 cases].
Topics: Adolescent; Adult; Child; Female; Humans; Male; Metabolism, Inborn Errors; Middle Aged; Nephrocalcinosis; Nutrition Disorders; Oxalates; Vitamin D | 1967 |
Primary hyperoxaluria. The demonstration of a metabolic abnormality in kidney tissue.
Topics: Carbon Isotopes; Female; Glyoxylates; Humans; Kidney; Metabolism, Inborn Errors; Oxalates; Urine | 1966 |
[So-called fibroplastic myocarditis in oxalosis].
Topics: Adult; Cardiomegaly; Humans; Kidney Calculi; Male; Metabolism, Inborn Errors; Myocarditis; Nephritis, Interstitial; Oxalates; Radiology | 1966 |
OXALOSIS: A CASE REPORT.
Topics: Consanguinity; Heart Block; Humans; Hyperoxaluria; Kidney Calculi; Metabolism, Inborn Errors; Nephrocalcinosis; Oxalates; Pancreatitis; Pathology; Skin Diseases; Uremia; Urine | 1965 |
[2 PATIENTS WITH PRIMARY OXALOSIS].
Topics: Humans; Hyperoxaluria, Primary; Kidney Calculi; Metabolism, Inborn Errors; Oxalates | 1965 |
Quantitative aspects of ascorbic acid metabolism in patients with primary hyperoxaluria.
Topics: Ascorbic Acid; Child; Child, Preschool; Glycine; Glyoxylates; Humans; In Vitro Techniques; Metabolism, Inborn Errors; Oxalates; Urinary Calculi; Urine | 1965 |
[Case report on the clinical picture of oxalosis].
Topics: Adult; Humans; Male; Metabolism, Inborn Errors; Nephrocalcinosis; Oxalates | 1965 |
Intra-vitam diagnosis of oxalosis.
Topics: Adult; Biopsy; Humans; Kidney Calculi; Male; Metabolism, Inborn Errors; Oxalates; Urinary Calculi | 1965 |