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GTR Home > Conditions/Phenotypes > Renal tubular acidosis with progressive nerve deafness

Summary

Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA). [from GeneReviews]

Available tests

53 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: ATP6B1, DRTA2, RTA1B, VATB, VMA2, VPP3, ATP6V1B1
    Summary: ATPase H+ transporting V1 subunit B1

Clinical features

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