Inherited primary causes of renal tubular acidosis

	Gene	Gene location	Protein	Features
Type 1 (distal) RTA
Autosomal recessive with deafness	ATP6V1B1	2p13	B1 subunit of H-ATPase	Presents in infancy with severe metabolic acidosis, poor growth, rickets, and nephrocalcinosis
Autosomal recessive with deafness	FOXI1	5q35	FOXI1	Presents with metabolic acidosis, nephrocalcinosis, and development of medullary cysts
Autosomal recessive without deafness	ATP6V0A4	7q33-q34	A4 subunit of H-ATPase	Presents in infancy with severe metabolic acidosis, poor growth, rickets, and nephrocalcinosis
Autosomal recessive without deafness	WDR72	15q21	WDR72	Poor growth, some individuals with abnormal tooth enamel formation (amelogenesis imperfecta)
Autosomal dominant	SLC4A1	17q21-q22	Chloride-bicarbonate exchanger	Presents later in life (eg, adolescence and adulthood) with mild/moderate metabolic acidosis, hypercalciuria, nephrolithiasis or nephrocalcinosis, osteomalacia, and erythrocytosis; may be associated with hereditary spherocytosis and ovalocytosis
Type 2 (proximal) RTA
Autosomal recessive	SLC4A4	4q21	Sodium bicarbonate cotransporter	Severe hypokalemic, hyperchloremic, metabolic acidosis, growth retardation, and ocular abnormalities (glaucoma, cataracts, and band keratopathy)
Autosomal dominant	Unknown	Unknown	Unknown	Short stature and metabolic acidosis
Type 3 (mixed) RTA
Autosomal recessive	Carbonic anhydrase II	8q22	Carbonic anhydrase II	Mixed RTA, osteopetrosis, cerebral calcification, and intellectual disability

RTA: renal tubular acidosis.

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