Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020500 (hyperoxaluria)
 912 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary distal renal tubular acidosis (dRTA) is an inherited disease characterized by the inability of the distal tubule to lower urine pH <5.50 during systemic acidosis. We report two male siblings who presented with severe hyperchloremic metabolic acidosis, high urinary pH, nephrocalcinosis, growth retardation, sensorineural hearing loss, and hypokalemic paralysis. Laboratory investigations revealed proximal tubular dysfunction (low molecular weight proteinuria, generalized hyperaminoaciduria, hypophosphatemia with hyperphosphaturia, and hypouricemia with hyperuricosuria). There was significant hyperoxaluria and laboratory evidence for mild rhabdomyolysis. Under potassium and alkali therapy, proximal tubular abnormalities, muscular enzymes, and oxaluria normalized. A homozygous mutation in the ATP6V1B1 gene, which is responsible for dRTA with early hearing loss, was detected in both siblings. In conclusion, proximal tubular dysfunction and hyperoxaluria may be found in children with dRTA and are reversible under appropriate therapy.
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PMID:Atypical presentation of distal renal tubular acidosis in two siblings. 1838 70

We describe a 7-month-old male with atypical features of autosomal recessive distal renal tubular acidosis (dRTA) with sensorineural hearing loss. Uncharacteristically, he presented with mild acidosis, hypokalaemia and hypocalciuria as well as unilateral sensorineural hearing loss. Subsequent investigations led to the discovery of both hyperoxaluria and beta2-microglobulinuria, thereby expanding the differential diagnosis to include both primary hyperoxaluria and Dent disease. Two mutations in the ATPV1B1 gene, one of which was novel, confirmed the diagnosis of dRTA. We consider the overlapping features of and diagnostic dilemmas involved in making a diagnosis of dRTA, primary hyperoxaluria and Dent disease in patients with infantile nephrocalcinosis. We highlight the occurrence of hyperoxaluria and low-molecular-weight proteinuria in patients with dRTA and propose that the phenotype of autosomal recessive dRTA with sensorineural hearing loss be broadened to include both hyperoxaluria and increased urinary excretion of beta2-microglobulin.
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PMID:An expanded syndrome of dRTA with hearing loss, hyperoxaluria and beta2-microglobulinuria. 2598 47