Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This 48-year-old male developed renal insufficiency, peripheral sensitivity to cold, occasional ventricular extrasystoles and atrio-ventricular block. He died suddenly after ventricular fibrillation. Autopsy showed extensive deposits of oxalate crystals in the kidney, myocardium, arterial walls of the extremities, and in many other visceral organs. The atrio-ventricular (A-V) node was also severely involved and marked fibrosis was found in the common A-V bundle (His) and in both bundle branches. The A-V node artery showed mural crystals and the lumen was narrowed by 50 per cent. Features supporting the diagnosis of primary oxalosis with cardiac manifestations include the onset of urolithiasis at 10 years of age, and 5 other siblings all having died of "renal disease" in infancy.
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PMID:Primary oxalosis with cardiac manifestations. 615 72