Primary hyperoxaluria
نویسنده
چکیده
منابع مشابه
Hyperoxalurias and their treatment
Hyperoxaluria is characterized by an increased in excretion of oxalate by kidney.There are two distinct clinical expressions of hyperoxaluria, named primary and secondary hyperoxaluria. Primary hyperoxaluria is a genetic disorder due to defective enzyme activity .In contrast , secondary hyperoxaluria , is caused by increased dietary ingestion of oxalate or oxalate precursors. There are three ma...
متن کاملRecurrence of primary hyperoxaluria after kidney transplantation.
Primary hyperoxaluria is a genetic disorder in glyoxylate metabolism that leads to systemic overproduction of oxalate. Functional deficiency of alanine-glyoxylate aminotransferase in this disease leads to recurrent nephrolithiasis, nephrocalcinosis, systemic oxalosis, and kidney failure. We present a young woman with end-stage renal disease who received a kidney allograft and experienced early ...
متن کاملPrimary Hyperoxaluria
Primary hyperoxalurias are rare recessive inherited inborn errors of glyoxylate metabolism. They are responsible for progressive renal involvement, which further lead to systemic oxalate deposition, which can even occur in infants. Primary hyperoxaluria type 1 is the most common form in Europe and is due to alanine-glyoxylate aminostransferase deficiency, a hepatic peroxisomal pyridoxin-depende...
متن کاملRecurrent primary hyperoxaluria type 2 leads to early post-transplant renal function loss: A case report
Primary hyperoxaluria type 2 is a rare autosomal recessive disorder caused by glyoxylate reductase/hydroxypyruvate reductase deficiency and characterized by recurrent episodes of nephrolithiasis and nephrocalcinosis. Herein, we describe a case of primary hyperoxaluria type 2 in a 33-year-old man who failed to respond to conventional therapies; thus renal transplantation was performed. This case...
متن کاملHyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: a novel type of primary hyperoxaluria.
Considering the clinical heterogeneity of primary hyperoxaluria type I (PH1) and the fact that in many instances this diagnosis was made without enzymatic and immunohistochemical investigation, other disturbances of oxalate metabolism than those presently known can be expected in PH1. Using a gaschromatographic/mass spectrometric method that allows quantification of these acids, hyperoxaluria a...
متن کاملCardiac involvement of primary hyperoxaluria accompanied by non-compaction cardiomyopathy and patent ductus arteriosus.
Primary hyperoxaluria is a rare hereditary metabolic disorder resulting in accumulation of calcium oxalate in visceral organs, including the heart. We report a 19-year-old male with non- compaction cardiomyopathy combined with patent ductus arteriosus awaiting combined liver-kidney transplantation for primary hyperoxaluria. After surgical closure of the patent ductus arteriosus, the patient und...
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تاریخ انتشار 2004