oxalates has been researched along with Cystinosis* in 8 studies
1 review(s) available for oxalates and Cystinosis
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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 |
7 other study(ies) available for oxalates and Cystinosis
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[Contribution of an ophthalmologic test to the diagnosis of familial nephropathies. Apropos of 10 cases].
The authors reported ten cases of familial nephropathy (two cystinosis, three Senior and Loken syndrome, one Alport's syndrome and four Oxalosis) associated to ocular manifestations. Aetiologic diagnosis was known from ocular symptoms in five cases (all cases of cystinosis and Senior and Loken syndrome). The authors undertook this study to analyse the value of ocular manifestations in determining the right aetiologic diagnosis in familial nephropathies. The results of this study showed that ocular manifestations are helpful for aetiologic diagnosis in the first diseases. Indeed, corneal injury is synonym of cystinosis and retinitis pigmentosa is usually associated with Senior and Loken syndrome. In Alport's syndrome, ocular manifestations: antcrior lenticonus cataractous and perimacular white points only have orientation value in the diagnosis of this disease. Oxalosis ocular manifestations which consist of retinal oxalate deposits appear late and are concomitant to familial renal insufficiency. They cannot help in the diagnostic search. Topics: Adolescent; Child; Corneal Diseases; Cystinosis; Eye Diseases; Humans; Kidney Diseases; Nephritis, Hereditary; Oxalates; Renal Insufficiency; Retinal Diseases; Retinitis Pigmentosa | 1994 |
Choosing a treatment modality for the infant, child and adolescent with endstage renal disease.
The factors involved in choosing a treatment modality for the infant, child and adolescent with endstage renal disease (ESRD) are different than those utilized when counseling an adult patient. Age at the time ESRD develops, mental status, psychosocial status and the primary renal disease must be taken into consideration when contemplating the optimal therapeutic modality for the pediatric patient with ESRD. Topics: Adolescent; Age Factors; Anorexia; Bone Diseases; Child; Child, Preschool; Cystinosis; Glomerulosclerosis, Focal Segmental; Growth Disorders; Humans; Infant; Kidney Failure, Chronic; Kidney Transplantation; Oxalates; Oxalic Acid; Peritoneal Dialysis; Peritoneal Dialysis, Continuous Ambulatory; Psychology; Wilms Tumor | 1987 |
[Kidney findings in congenital metabolic disorders].
Topics: Cystinosis; Humans; Kidney; Lecithin Cholesterol Acyltransferase Deficiency; Metabolism, Inborn Errors; Oxalates | 1982 |
Clinical lessons in renal transplantation from the transplant registry.
Topics: Adult; Amyloidosis; Cadaver; Child; Cystinosis; Diabetic Nephropathies; Fabry Disease; Female; HLA Antigens; Humans; Kidney Diseases; Kidney Transplantation; Male; Metabolic Diseases; Middle Aged; Oxalates; Registries; Transplantation, Homologous | 1977 |
Transplantation in patients with unusual causes of renal failure.
Topics: Adolescent; Adult; Amyloidosis; Child; Cystinosis; Diabetic Nephropathies; Fabry Disease; Female; Gout; Humans; Kidney Diseases; Kidney Failure, Chronic; Kidney Transplantation; Male; Metabolic Diseases; Middle Aged; Nephritis; Nephritis, Hereditary; Oxalates; Renal Dialysis; Retrospective Studies; Transplantation, Homologous | 1976 |
Renal transplantation in congenital and metabolic diseases. A report from the ASC/NIH renal transplant registry.
The results of kidney transplantation in a variety of renal diseases have been analyzed. The diseases causing end-stage kidney failure in recipients were Alport syndrome, amyloidosis, cystinosis, diabetes mellitus, Fabry disease, familial nephritis, gout, medullary cystic disease, oxalosis, and systemic lupus erythematosus. The data indicate that renal transplantation is justifiable and parallels functional results for the more common causes of end-stage renal disease in all but Fabry disease and oxalosis. Although Fabry disease did not recur in any grafted kidney, only three patients have a functioning graft one year after transplantation. From a group of ten patients with oxalosis who received a total of 14 kidneys, only one survives. In no other metabolic disease, except one instance of primary amyloidosis, did the metabolic disease notably affect the transplant as it did in oxalosis. Topics: Adolescent; Adult; Amyloidosis; Cystinosis; Diabetes Complications; Evaluation Studies as Topic; Fabry Disease; Female; Follow-Up Studies; Gout; Humans; International Cooperation; Kidney Diseases; Kidney Transplantation; Lupus Erythematosus, Systemic; Male; Middle Aged; Nephritis; Nephritis, Hereditary; Oxalates; Registries; Transplantation, Homologous | 1975 |
OPTICAL CHARACTERIZATION OF CRYSTALS IN TISSUE: CYSTINE AND CALCIUM OXALATE MONOHYDRATE.
Topics: Calcium; Calcium Oxalate; Crystallography; Cystine; Cystinosis; Metabolic Diseases; Microscopy; Microscopy, Polarization; Oxalates; Pathology; X-Ray Diffraction | 1965 |