title: Atypical presentation of distal renal tubular acidosis in two siblings.
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.
authors.affiliation: Department of Pediatric Nephrology, Children's Hospital, 17 Vodnjanska, Skopje, Macedonia. vtasic@freemail.com.mk
authors.forename: Velibor
authors.initials: V
authors.lastname: Tasic
authors.forename: Petar
authors.initials: P
authors.lastname: Korneti
authors.forename: Zoran
authors.initials: Z
authors.lastname: Gucev
authors.forename: Bernd
authors.initials: B
authors.lastname: Hoppe
authors.forename: Nenad
authors.initials: N
authors.lastname: Blau
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
mesh_terms: D000141:Acidosis, Renal Tubular / Q000150:complications* / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D002675:Child, Preschool; D002712:Chlorides / Q000097:blood; D006130:Growth Disorders / Q000209:etiology; D006319:Hearing Loss, Sensorineural / Q000209:etiology; D006801:Humans; D006863:Hydrogen-Ion Concentration; D006959:Hyperoxaluria / Q000209:etiology; D007008:Hypokalemia / Q000209:etiology; D007687:Kidney Tubules, Proximal / Q000201:enzymology / Q000378:metabolism*; D008297:Male; D009154:Mutation; D010243:Paralysis / Q000209:etiology; D010760:Phosphorus Metabolism Disorders / Q000209:etiology; D000608:Renal Aminoacidurias / Q000209:etiology; D012206:Rhabdomyolysis / Q000209:etiology; D035781:Siblings; D014527:Uric Acid / Q000097:blood; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics
chemical_list: C509766:ATP6V1B1 protein, human; D002712:Chlorides; D014527:Uric Acid; D025262:Vacuolar Proton-Translocating ATPases