What are the genetic forms of type 1 renal tubular acidosis (RTA)?

Updated: Dec 08, 2020
  • Author: Christie P Thomas, MBBS, FRCP, FASN, FAHA; Chief Editor: Vecihi Batuman, MD, FASN  more...
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The genetic forms of type 1 RTA are the following:

  • Autosomal dominant: Heterozygous mutations in the basolateral Cl-/HCO3- exchanger, AE1 (gene symbol SLC4A1), cause a dominant form of distal RTA with nephrocalcinosis and osteomalacia. Some patients with this disorder can be relatively asymptomatic and present in later years, while others present with severe disease in childhood. The disorder is allelic with one form of hereditary spherocytosis, but each disease is caused by distinct mutations in the same gene.

  • Autosomal recessive: This form of the disease may occur with or without sensorineural deafness. The type that occurs with deafness involves homozygous mutations in the B subunit of H+ –ATPase (gene symbol ATP6B1) in the A-type intercalated cells. The type that occurs without deafness involves homozygous mutations in the accessory N1 subunit of H+ –ATPase (gene symbol ATP6N1B). Homozygous or compound heterozygous mutations in AE1 also cause a recessive form of distal RTA that manifests in childhood with growth retardation and nephrocalcinosis that may lead to renal insufficiency. Heterozygous carriers have autosomal dominant ovalocytosis but normal renal acidification.

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