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

More general terms

• renal tubular acidosis (RTA)
• genetic disease of the kidney

Database

• OMIM: https://mirror.omim.org/entry/179800