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Condition report · Urological

Renal Tubular Acidosis

Inherited conditions in which the kidneys cannot properly remove acid from the blood or reabsorb bicarbonate, which can affect growth, bones and the kidneys themselves.

A condition report looks for rare variants known to cause the conditions it covers.

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The 2 conditions we analyse

Distal Renal Tubular Acidosis

Autosomal recessive

An inherited inability of the kidney's collecting ducts to excrete acid, caused by variants in SLC4A1, ATP6V1B1, ATP6V0A4 and other genes; some forms also cause hearing loss.

What a diagnosis changes

Alkali treatment can prevent kidney calcification and growth problems, and some forms warrant a hearing assessment.

Genes analysed

Also known as

classic RTA; distal renal tubular acidosis (disease); dRTA; familial distal primary acidosis; Primary Distal Renal Tubular Acidosis; renal tubular acidosis type 1

Includes 7 related subtypes ↓
  • acquired distal renal tubular acidosis
  • autosomal dominant distal renal tubular acidosis
  • autosomal recessive distal renal tubular acidosis
  • inherited distal renal tubular acidosis
  • renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
  • renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
  • renal tubular acidosis, distal, 4, with hemolytic anemia
MONDO:0015827Orphanet 18MedGen 853429

Proximal Renal Tubular Acidosis

An inherited loss of bicarbonate in the urine due to impaired reabsorption in the proximal tubule, most notably from SLC4A4 variants, which can also affect the eyes.

What a diagnosis changes

Alkali treatment can correct the acidosis and support normal growth.

Genes analysed

Also known as

pRTA; renal tubular acidosis type 2; Type 2 RTA

Includes 2 related subtypes ↓
  • autosomal dominant proximal renal tubular acidosis
  • autosomal recessive proximal renal tubular acidosis
MONDO:0008369OMIM 179830Orphanet 47159MedGen 82804

Other urological conditions

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