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Atypical presentation of distal renal tubular acidosis in two siblings

Cited 19 time in Web of Science Cited 17 time in Scopus
Authors
Tasic, Velibor; Korneti, Petar; Gucev, Zoran; Hoppe, Bernd; Blau, Nenad; Cheong, Hae Il
Issue Date
2008-04-04
Publisher
Springer Verlag
Citation
Pediatr Nephrol. 23(7):1177-1181
Keywords
Acidosis, Renal Tubular/*complications/genetics/metabolism/therapyChild, PreschoolChlorides/bloodGrowth Disorders/etiologyHearing Loss, Sensorineural/etiologyHumansHydrogen-Ion ConcentrationHyperoxaluria/etiologyHypokalemia/etiologyKidney Tubules, Proximal/enzymology/*metabolismMaleMutationParalysis/etiologyPhosphorus Metabolism Disorders/etiologyRenal Aminoacidurias/etiologyRhabdomyolysis/etiologySiblingsUric Acid/bloodVacuolar Proton-Translocating ATPases/genetics
Abstract
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.
ISSN
0931-041X (Print)
Language
English
URI
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18386070

http://www.springerlink.com/content/y74382g3p4772180/fulltext.pdf

https://hdl.handle.net/10371/68150
DOI
https://doi.org/10.1007/s00467-008-0796-z
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College of Medicine/School of Medicine (의과대학/대학원)Pediatrics (소아과학전공)Journal Papers (저널논문_소아과학전공)
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