Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0392525 (nephrolithiasis)
 2,669 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary hyperoxaluria is a rare autosomal recessive disorder resulting in precipitation of insoluble oxalate crystals in the joints, kidneys, heart, eyes, and skin. Two thirds of patients have calcium oxalate nephrolithiasis by age 5 years and 80% die of renal failure by age 20 years. Rarely, the disease will present in adulthood, with the onset of symptoms occurring as late as the sixth decade. We present a 27-year-old woman with end-stage renal disease who presented to the dermatology department for the evaluation of a reticular rash shortly after beginning peritoneal dialysis. Associated symptoms included arthralgias and episodic acral cyanosis. Previous kidney and skin biopsy specimens revealed crystalline deposition, however, the diagnosis of primary hyperoxaluria was not entertained until an atrial mass was found to have the same crystalline material. This report reviews primary hyperoxaluria and underscores the importance of recognizing the disease as a cause of renal failure in a patient with livedo reticularis and skin lesions resembling calciphylaxis. Early recognition of the disease is important because combined liver-kidney transplantation may achieve long-term survival.
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PMID:Primary hyperoxaluria in a 27-year-old woman. 1451 27