Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-4330
Tasic, V; Korneti, P; Gucev, Z; Hoppe, B; Blau, N; Cheong, H I (2008). Atypical presentation of distal renal tubular acidosis in two siblings. Pediatric Nephrology, 23(7):1177-1181.
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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.
|Item Type:||Journal Article, refereed, original work|
|Communities & Collections:||04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic|
|DDC:||610 Medicine & health|
|Deposited On:||12 Nov 2008 15:01|
|Last Modified:||27 Nov 2013 17:14|
|Additional Information:||The original publication is available at www.springerlink.com|
|Citations:||Web of Science®. Times Cited: 7|
Scopus®. Citation Count: 8
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