Renal tubular acidosis epidemiology and demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Aditya Ganti M.B.B.S. [2]

Epidemiology

Incidence

• The estimated annual incidence of distal renal tubular acidosis is 10 in 100,000 population.
• Proximal renal tubular acidosis is a r

Prevalence

• Demographics

Age

• Renal tubular acidosis is more common in infants than other group of population

Gender

• Distal renal tubular acidosis affects men and women equally.
• However, proximal renal tubular acidosis is more common in males than females.

Race

• There is racial predilection for renal tubular acidosis.

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There is no sex predominance in DRTA or in Type 4 RTA.

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DRTA may be inherited as an autosomal dominant or recessive trait.

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Autosomal recessive DRTA often presents in infancy, whereas autosomal dominant DRTA may not present until adolescence or young adulthood.

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Mutations in the genes encoding carbonic anhydrase II, kidney anion exchanger 1 (kAE1), and subunits of the renal proton pump (H+‐ATPase) have been identified in patients with DRTA.

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DRTA is almost always permanent.

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Isolated PRTA is more common in males.

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Isolated PRTA may be transient.

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Genetically transmitted PRTAs include autosomal dominant and recessive forms.

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PRTA (with ocular abnormalities) may be caused by inactivating mutations in the Na/HCO3 cotransporter gene (SLC4A4).

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PRTA may also be associated with other genetically transmitted disorders, such as osteopetrosis with carbonic anhydrase II deficiency.

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Inherited defects leading to Type 4 RTA are due to aldosterone deficiency or resistance.

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Congenital adrenal hyperplasia with salt wasting

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Isolated hypoaldosteronism

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Pseudohypoaldosteronism (defect at the aldosterone receptor level)