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Article

Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.

Pediatric nephrology (Berlin, Germany) - 1 Feb 2003

Ruf Rainer, Rensing Cornelia, Topaloglu Rezan, Guay-Woodford Lisa, Klein Cornelia, Vollmer Martin, Otto Edgar, Beekmann Frank, Haller Maria, Wiedensohler Alexander, Leumann Ernst, Antignac Corinne, Rizzoni Gianfranco, Filler Guido, Brandis Matthias, Weber James L, Hildebrandt Friedhelm

Abstract excerpt

Primary distal renal tubular acidosis (dRTA) type I is a hereditary renal tubular disorder, which is characterized by impaired renal acid secretion resulting in metabolic acidosis. Clinical symptoms are nephrocalcinosis, nephrolithiasis, osteomalacia, and growth retardation. Biochemical alterations consist of hyperchloremic metabolic acidosis, hypokalemia with muscle weakness, hypercalciuria, and inappropriately...

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PMID: 12579397
DOI: 10.1007/s00467-002-1018-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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