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Query: UMLS:C0020500 (hyperoxaluria)
 912 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with primary hyperoxaluria type I in infancy is reported. He had renal insufficiency, but urolithiasis was absent. Demonstration of diffuse nephrocalcinosis by renal ultrasound contributed to early diagnosis. Prolonged survival leads to extensive extrarenal oxalate deposition. Repeated skeletal surveys showed the development and the progression of severe hyperoxaluria-related bone disease. Translucent metaphyseal bands with sclerotic margins, wide areas of rarefaction at the ends of the long bones, and translucent rims around the epiphyses and the tarsal bones were signs of disordered bone growth. Bone density generally increased with time indicating progressive sclerosis due to oxalate deposition in the previously normal bone structure.
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PMID:Bone disease of primary hyperoxaluria in infancy. 268 79

Primary hyperoxaluria type I (PH I) is characterized by an excessive endogenous production and excretion of oxalic and glycolic acid. Prognosis of this "inborn error of metabolism" is not favorable due to calcium-oxalate depositions in kidney and other organs. Vitamin B6 administration and/or renal transplantation can greatly improve the prognosis, as reported in literature. In this article our experience with 5 patients with vitamin B6 resistant hyperoxaluria is reported. Symptomatology and progression of the primary disease are described. The results of treatment interfering with oxalate production and calcium-oxalate crystallization are given. Three patients underwent renal replacement therapy. In these, oxalosis developed during hemodialysis and progressed following transplantation; a disabling bone disease was the most severe complication. Outcome of transplantation was disappointing. In two out of three patients, there was recurrence of the primary disease in the graft. In only one of them long-term graft function was satisfying. However, even this good function could not prevent disabling symptoms of oxalosis. Therefore, evaluation of the results of transplantation should not only include data related to graft function and survival, but also the complications due to calcium-oxalate depositions in various organs. To prevent oxalosis, kidney transplantation should be performed before end stage renal disease is achieved in patients with vitamin B6 resistant PH I.
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PMID:Vitamin B6 resistant primary hyperoxaluria type I. Report of 5 cases. 270 72

In three patients with end-stage renal failure due to primary hyperoxaluria type 1, successful combined liver-kidney transplantation enabled us to assess the insoluble oxalate pool, which was compared with the histopathological changes observed in iliac crest biopsy specimens. Good correlation was observed between the histopathological grade of bone oxalosis and the estimated oxalate content of the body. In the end-stage of oxalate bone disease, hyperparathyroidism does not play a significant role in bone resorption, which appears to be the consequence of the granulomatous reaction induced by oxalate deposition. Combined liver-kidney transplantation should be performed long before this stage. Early hepatorenal grafting in uremia secondary to primary hyperoxaluria type 1 would avoid the deleterious clinical consequences of systemic oxalosis and shorten the duration of postransplant hyperoxaluria, which may compromise the course of kidney graft.
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PMID:Combined liver-kidney transplantation in primary hyperoxaluria type 1. Bone histopathology and oxalate body content. 760 40

Primary hyperoxaluria type 1 (PH 1) is complicated by a high rate of early end-stage renal failure (ESRF). In ESRF combined liver kidney transplantation has emerged as treatment of choice for teenagers and adults. In chronic renal failure (CRF) and for small children the situation is less clear. We report on three isolated liver transplantations and show the data of young children from the European Registry for liver transplantation in PH 1. Patient #1 developed ESRF at 3 months of age. Deficiency of alanine:glyoxylate aminotransferase proved PH 1. Progressive bone disease developed and the boy received a living related liver graft (LRLTx) at age two. Due to recurrent cholangitis kidney transplantation (KTx) is currently not feasible. Plasma oxalate decreased after LRLTx indicating correction of the metabolic defect. Patient #2 was diagnosed at the age of 14 months. He had nephrocalcinosis and hyperglycolic hyperoxaluria. Two years later he developed ESRF. At 5 years of age isolated liver transplantation was performed as a first step of therapy. Due to prolonged warm ischemia time organ function was poor. A severe bleeding complicated the course. The child died four weeks after transplantation from untreatable CMV septicemia. Patient #3 was evaluated for failure to thrive at 6 months of age. Urinary oxalate/creatinine ratio was 705 mumol/mol and gave rise to the diagnosis of PH 1. Renal failure slowly progressed to a creatinine clearance of 20 ml/min/1.73 m2 at 8 years, when liver transplantation (LTx) was performed. Four months later, GFR has not changed. Liver function and urinary oxalate/creatinine ratio are normal. Slowly deteriorating chronic renal failure can be stabilized through isolated liver transplantation and thus the rapid need for KTx will at least be delayed. Even more important, normalization of the oxalate metabolism prevents extrarenal oxalate deposits during renal failure.
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PMID:Transplantation procedures in primary hyperoxaluria type 1. 883 45

Genetic disorders of mineral metabolism cause urolithiasis, renal disease, and osteodystrophy. Most are rare, such that the full spectrum of clinical expression is difficult to appreciate. Diagnosis is further complicated by overlap of clinical features. Dent's disease and primary hyperoxaluria, inherited causes of calcium urolithiasis, are both associated with nephrocalcinosis and urolithiasis in early childhood and renal failure that can occur at any age but is seen more often in adulthood. Bone disease is an inconsistent feature of each. Dent's disease is caused by mutations of the CLCN-5 gene with impaired kidney-specific CLC-5 chloride channel expression in the proximal tubule, thick ascending limb of Henle, and the collecting ducts. Resulting hypercalciuria and proximal tubule dysfunction, including phosphate wasting, are primarily responsible for the clinical manifestations. Low-molecular-weight proteinuria is characteristic. Definitive diagnosis is made by DNA mutation analysis. Primary hyperoxaluria, type I, is due to mutations of the AGXT gene leading to deficient hepatic alanine-glyoxylate aminotransferase activity. Marked overproduction of oxalate by hepatic cells results in the hyperoxaluria responsible for clinical features. Definitive diagnosis is by liver biopsy with measurement of enzyme activity, with DNA mutation analysis used increasingly as mutations and their frequency are defined. These disorders of calcium urolithiasis illustrate the value of molecular medicine for diagnosis and the promise it provides for innovative and more effective future treatments.
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PMID:Stones, bones, and heredity. 1680 Nov 62