distal renal tubular acidosis with deafness
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Genetics
- autosomal recessive
- associated with defects in ATP6V1B1
Clinical manifestations
- patients are severely affected
- present with either acute illness or growth failure at a young age
- bilateral sensorineural deafness
Laboratory
- low serum K+ due to renal K+ wasting,
- elevated urinary Ca+2
- renal tubular acidosis
Complications
- if untreated, may result osteomalacia, rickets
- nephrocalcinosis
- nephrolithiasis