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distal renal tubular acidosis with preserved hearing (RTADR)
Pathology:
1) functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron
2) proton transport into urine for urinary acidification is compromised
3) failure of alpha-intercalated cells results in metabolic acidosis with disturbances of
a) potassium balance
b) urinary calcium solubility
c) bone physiology & growth
Genetics:
1) autosomal recessive
2) associated with defects in ATP6V0A4 gene
Related
vacuolar proton translocating ATPase 116 kD subunit a, isoform 4; V-ATPase 116 kD isoform a34; vacuolar proton translocating ATPase 116 kD subunit a, kidney isoform (ATP6V0A4, ATP6N1B)
General
renal tubular acidosis (RTA) type I (hyperchloremic acidosis, distal RTA)
Database Correlations
OMIM 208085
References
OMIM :accession 208085