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Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.

  • Mohebbi N Division of Nephrology, University Hospital Zurich, Rämistrasse 100, 8091, Zurich, Switzerland. nilufar.mohebbi@usz.ch.
  • Wagner CA National Center for Competence in Research NCCR Kidney.CH, Zurich, Switzerland. Wagnerca@access.uzh.ch.
  • 2017-10-11
Published in:
  • Journal of nephrology. - 2018
Alkali
Hearing loss
Hypokalemia
Mutation
Nephrocalcinosis
Proton pump
Acidosis, Renal Tubular
Adult
Anion Exchange Protein 1, Erythrocyte
Disease Progression
Hearing Loss, Sensorineural
Humans
Hypokalemia
Kidney Tubules, Distal
Male
Nephrocalcinosis
Prognosis
Renal Insufficiency, Chronic
Vacuolar Proton-Translocating ATPases
English Distal renal tubular acidosis (dRTA) is a tubular disorder with a primary defect of urinary acidification and acid excretion in the collecting duct system. Consequently, patients develop hyperchloremic metabolic acidosis with an inappropriately alkaline urine. Inherited forms of dRTA are due to mutations in at least three distinct genes: SLC4A1, ATP6V1B1, ATP6V0A4. Mutations in SLC4A1-(AE1) are inherited either in an autosomal dominant manner or in a recessive one. ATP6V1B and ATP6V0A4 mutations affect two different subunits of the vacuolar H+-ATPase proton-pump, the B1 and a4 subunits, and are inherited in an autosomal recessive manner. Clinical manifestations of inherited forms of dRTA usually occur during infancy or childhood. However, heterozygous carriers of ATP6V1B1 and ATP6V0A4 mutations may have a higher risk of developing nephrolithiasis and nephrocalcinosis in adulthood, respectively. In full forms of dRTA, patients may present with mild clinical symptoms, such as mild metabolic acidosis and incidental detection of kidney stones, as well as with more severe manifestations such as failure to thrive, severe metabolic acidosis, and nephrocalcinosis. Progressive sensorineural hearing loss develops in the majority of patients with recessive dRTA (ATP6V1B1 and ATP6V0A4 mutations). Some patients with recessive dRTA may also develop abnormal widening of the vestibular aqueduct. This review will discuss our current understanding of the pathophysiology of inherited forms of dRTA, diagnosis and prognosis of patients, and therapy.
Language
  • English
Open access status
green
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Persistent URL
https://roar.hep-bejune.ch/global/documents/258514
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