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Atypical presentation of distal renal tubular acidosis in two siblings

Pediatric Nephrology volume 23, pages 1177–1181 (2008)Cite this article

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.

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Conflict of interest statement

None declared.

Author information

Affiliations

  1. Department of Pediatric Nephrology, Children’s Hospital, 17 Vodnjanska, 1000, Skopje, Macedonia

    Velibor Tasic

  2. Department of Biochemistry, Medical School, Skopje, Macedonia

    Petar Korneti

  3. Department of Pediatric Endocrinology and Genetics, University Children’s Hospital, Skopje, Macedonia

    Zoran Gucev

  4. Division of Pediatric Nephrology, University Children’s Hospital, Cologne, Germany

    Bernd Hoppe

  5. Division of Clinical Chemistry and Biochemistry, University Children’s Hospital, Zurich, Switzerland

    Nenad Blau

  6. Department of Pediatrics, Seoul University Children’s Hospital, Seoul, South Korea

    Hae Il Cheong

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  1. Velibor Tasic
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  2. Petar Korneti
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  3. Zoran Gucev
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  4. Bernd Hoppe
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  5. Nenad Blau
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  6. Hae Il Cheong
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Correspondence to Velibor Tasic.

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Tasic, V., Korneti, P., Gucev, Z. et al. Atypical presentation of distal renal tubular acidosis in two siblings. Pediatr Nephrol 23, 1177–1181 (2008). https://doi.org/10.1007/s00467-008-0796-z

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  • DOI: https://doi.org/10.1007/s00467-008-0796-z

Keywords

  • Distal renal tubular acidosis
  • Hypokalemic paralysis
  • Rhabdomyolysis
  • Hyperoxaluria
  • ATP6V1B1 mutation