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autosomal dominant distal renal tubular acidosis
Genetics:
- associated with defects in SLC4A1
- autosomal dominant
Clinical manifestations:
- reduced ability to acidify urine
- variable hyperchloremic hypokalemic metabolic acidosis
- nephrocalcinosis
- nephrolithiasis
Laboratory:
- chemistry panel
- serum chloride: hyperchloremia
- serum potassium; hypokalemia
- arterial blood gas
- metabolic acidosis
Radiology:
- US of ureters, kidney bladder
- abdominal CT
General
renal tubular acidosis (RTA)
genetic disease of the kidney
Database Correlations
OMIM 179800
References
OMIM :accession 179800