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)

Primary hyperoxaluria (PH) is a rare inborn error of oxalate metabolism resulted in autosomal recessive genetic defects. Clinical manifestations and end stage renal failure are developed during childhood in most cases, but occasionally they begin later in life. The diagnosis of PH is quite difficult due to diminished oxalate excretion after the renal function was declined. especially after initiation of hemodialysis therapy. We report here an adult case who was introduced into hemodialysis and subsequently regarded to have primary hyperoxaluria (PH). In clinical situations, this case had some peculiar clinical signs such as histories of frequent stone formations, impressive dental manifestations and destructive erosions of bones resembling renal osteodystrophy. There might be more PH patients among hemodialysis patients. PH should be considered in hemodialysis patients whenever curious bone changes and/or dental manifestations with history of frequent urolithiasis are recognized in the earlier course of hemodialysis therapy.
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PMID:Hemodialysis patient regarded as a primary hyperoxaluria after long-term hemodialysis and renal transplantation. 778 24