منابع مشابه
Primary 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 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 کاملHyperoxaluria After Renal Transplantation.
Primary hyperoxaluria is a rare autosomal recessive disorder, characterised by precipitation of insoluble oxalate crystals in the joints, kidneys, heart, eyes, skin, nerves, and bone marrow. The patients of primary oxaluria usually present with renal stone/nephrocalcinosis, and isolated kidney transplantation should not be done in these patients. We present a case report of 31-year lady with ac...
متن کاملHyperoxaluria and renal calculi.
Many Western countries are experiencing an epidemic of renal calculi, causing immediate problems with acute pain and morbidity together with worries for the future because of the likelihood of recurrent stone formation. Renal or ureteric colic is the commonest surgical admission diagnosis in this country and it has been suggested that up to 12 million Americans will suffer a stone episode durin...
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ژورنال
عنوان ژورنال: Kidney International
سال: 2011
ISSN: 0085-2538
DOI: 10.1038/ki.2011.287