oxalates and Kidney-Diseases--Cystic

Topics: Carcinoma, Renal Cell; Humans; Kidney Diseases, Cystic; Kidney Neoplasms; Loop of Henle; Oxalates; Precancerous Conditions

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

Paneth-like cells (PLCs) are different from Paneth cells (PCs) and contain Paneth-like granules, which have been reported in non-neoplastic conditions and in neoplasms of various organs. PLCs have been reported in clear cell renal cell carcinoma (CCRCC), but not in non-CCRCC, including acquired cystic disease-associated renal cell carcinoma (ACD-RCC). We analyzed clinicopathological features of 24 acquired cystic disease-associated renal cell carcinoma (ACD-RCC) with PLCs (ACD-RCCP+) and compared with those of 23 ACD-RCCs without PLCs (ACD-RCCP-). Approximately half of ACD-RCCs had PLCs and that almost all kidneys harboring ACD-RCC had cysts with PLCs. The fact that many ACD-RCCs and the cysts had PLCs is further evidence that the cyst with vacuoles and complex architecture might be a precursor lesion for ACD-RCC. The presence of PLCs may provide additional morphologic clue for distinguishing ACD-RCC from PRCC in challenging differential diagnostic workup in acquired cystic disease of the kidney setting.

Topics: Adult; Aged; Carcinoma, Renal Cell; Cysts; Diagnosis, Differential; Disease Progression; Female; Humans; Kidney; Kidney Diseases, Cystic; Kidney Neoplasms; Male; Middle Aged; Neoplasm Staging; Oxalates; Paneth Cells; Tumor Necrosis Factor-alpha

Renal tumors may arise in the setting of end-stage renal cell disease. The risk is 100 times that of the normal population with an incidence ranging from 3-7%. The most common malignant tumor to arise in the setting of acquired cystic disease of the kidney is the acquired cystic disease-associated renal cell carcinoma (ACD-associated RCC). The cytomorphologic features of ACD-associated RCC, which has not been described previously, show moderately cellular specimens composed of clusters of cells with papillary configuration. The cells ranged from polygonal to columnar and contained abundant eosinophilic granular cytoplasm. The nuclei were round and centrally located, and the chromatin was finely granular with prominent central nucleoli that corresponded to Fuhrman's grade 3 nucleolar size. The main differential diagnosis is type 2 papillary renal cell carcinoma, from which it can be distinguished based on clinical findings only at this moment.

Topics: Adenocarcinoma, Papillary; Adult; Aged; Carcinoma, Renal Cell; Cyst Fluid; Cytodiagnosis; Diagnosis, Differential; Humans; Kidney Diseases, Cystic; Kidney Neoplasms; Male; Oxalates

We have investigated the importance of several clinical and laboratory parameters on the development of acquired cystic kidney disease (ACKD) as detected by ultrasonography in 19 patients who had received dialysis therapy for at least three years. We were particularly interested on the possible effect of the serum levels of oxalate and silicon, which can produce tubular obstruction, and that of vanadium, which can affect cell proliferation. The severity of ACKD increased with the duration of dialysis and was greater in men than in women. Positive correlations were observed between the grades of ACKD and the levels of hemoglobin, hematocrit, and parathyroid hormone, while there was a negative correlation between ACKD and serum ferritin levels. The serum levels of oxalate, silicon, and vanadium, pre- and postdialysis, were markedly and significantly higher than those in normal controls, but there was no significant correlation between these levels and the duration of dialysis therapy or severity of ACKD. The pre- and postdialysis levels of vanadium were not significantly different, while the levels of oxalate and silicon were significantly lower in the postdialysis samples. No significant correlations were detected between ACKD and age of the patients, blood pressure, protein catabolic rate, efficiency of dialysis index, or the serum levels of iron, sodium, potassium, calcium, phosphorus, aluminum, and beta 2-microglobulin.

Topics: Dialysis Solutions; Female; Hematocrit; Hemoglobins; Humans; Kidney; Kidney Diseases, Cystic; Male; Oxalates; Oxalic Acid; Parathyroid Hormone; Peritoneal Dialysis, Continuous Ambulatory; Renal Dialysis; Sex Factors; Silicon; Time Factors; Ultrasonography; Vanadium

The present study was undertaken to see if the oxalate deposits seen in renal tubules are a causative factor in the development of acquired renal cysts in chronic renal failure. Thirty 5/6 nephrectomized rats had free access to water containing 8 mg/ml of vitamin C (oxalate precursor) and 20 5/6 nephrectomized rats were given tap water without vitamin C. Oxalate deposits were found on microscopy in the renal tubules of vitamin C-treated rats in the 11th and 12th postnephrectomy months; however, acquired renal cysts were noted far in advance of the appearance of oxalate crystals. It has been suggested that the tubular dilatation seen in 5/6 nephrectomized rats is caused by an abrupt decrease in the functioning renal mass, leading to the production of a so-called 'renotropic factor'. However, oxalate deposits and renal tubular dilatation in oxalate-treated 5/6 nephrectomized rats preceded the renal tubular dilatation of untreated partially nephrectomized rats. In addition, these histological changes in the kidney were also seen in healthy rats which were given oxalate orally and subcutaneously. The present study suggested that the pathogenesis of acquired renal cysts is multifactorial. Renotropic factor may play an important role leading to nephron hyperplasia, but oxalate deposits in the renal tubules seem to be an important factor in the formation of these cysts.

Topics: Animals; Ascorbic Acid; Creatinine; Growth Substances; Histocytochemistry; Intercellular Signaling Peptides and Proteins; Kidney Diseases, Cystic; Kidney Failure, Chronic; Kidney Tubules; Nephrectomy; Oxalates; Rats; Rats, Inbred Strains

The pattern of the renal disease and the pathological changes were studied in the kidneys of 80 autopsied patients who were maintained on hemodialysis for periods of up to seven years. Chronic pyelonephritis was most frequently encountered (25%); next in frequency were chronic glomerulonephritis (17.5%) and nephrosclerosis (17.5%). Moderate to severe intrarenal vascular changes were seen; intimal changes were most prominent. Statistically significant differences were observed in the distribution of the initimal lesions in intrarenal vessels of different calibres. Deposits of oxalate crystals, usually in the renal tubules, were encountered in all kidneys except four. Twenty-four patients (30%) showed acquired cystic kidney disease; renal calcification was observed in 61 others. The pathogenesis of these lesions in hemodialysis kidneys and their clinical significance are discussed.

Topics: Adult; Aged; Histocytochemistry; Humans; Kidney; Kidney Diseases, Cystic; Kidney Failure, Chronic; Male; Middle Aged; Oxalates; Renal Artery; Renal Dialysis