S-Space College of Medicine/School of Medicine (의과대학/대학원) Pediatrics (소아과학전공) Journal Papers (저널논문_소아과학전공)
Atypical presentation of distal renal tubular acidosis in two siblings
- Tasic, Velibor; Korneti, Petar; Gucev, Zoran; Hoppe, Bernd; Blau, Nenad; Cheong, Hae Il
- Issue Date
- Springer Verlag
- Pediatr Nephrol. 23(7):1177-1181
- Acidosis, Renal Tubular/*complications/genetics/metabolism/therapy; Child, Preschool; Chlorides/blood; Growth Disorders/etiology; Hearing Loss, Sensorineural/etiology; Humans; Hydrogen-Ion Concentration; Hyperoxaluria/etiology; Hypokalemia/etiology; Kidney Tubules, Proximal/enzymology/*metabolism; Male; Mutation; Paralysis/etiology; Phosphorus Metabolism Disorders/etiology; Renal Aminoacidurias/etiology; Rhabdomyolysis/etiology; Siblings; Uric Acid/blood; Vacuolar Proton-Translocating ATPases/genetics
- 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.
- 0931-041X (Print)
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