Atypical presentation of distal renal tubular acidosis in two siblings

Velibor Tasic, Petar Korneti, Zoran Gucev, Bernd Hoppe, Nenad Blau, Hae Il Cheong

Research output: Contribution to journalArticle

15 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1177-1181
Number of pages5
JournalPediatric Nephrology
Volume23
Issue number7
DOIs
StatePublished - 1 Jul 2008

Fingerprint

Hyperoxaluria
Renal Tubular Acidosis
Siblings
Acidosis
Familial Hypophosphatemia
Nephrocalcinosis
Hypophosphatemia
Rhabdomyolysis
Sensorineural Hearing Loss
Alkalies
Proteinuria
Hearing Loss
Paralysis
Potassium
Molecular Weight
Urine
Mutation
Enzymes
Therapeutics
Growth

Keywords

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

Cite this

Tasic, Velibor ; Korneti, Petar ; Gucev, Zoran ; Hoppe, Bernd ; Blau, Nenad ; Cheong, Hae Il. / Atypical presentation of distal renal tubular acidosis in two siblings. In: Pediatric Nephrology. 2008 ; Vol. 23, No. 7. pp. 1177-1181.
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Atypical presentation of distal renal tubular acidosis in two siblings. / Tasic, Velibor; Korneti, Petar; Gucev, Zoran; Hoppe, Bernd; Blau, Nenad; Cheong, Hae Il.

In: Pediatric Nephrology, Vol. 23, No. 7, 01.07.2008, p. 1177-1181.

Research output: Contribution to journalArticle

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AU - Cheong, Hae Il

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