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distal renal tubular acidosis with deafness
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
Management:
- see renal tubular acidosis type 1
General
genetic syndrome (multisystem disorder)
renal tubular acidosis (RTA) type I (hyperchloremic acidosis, distal RTA)
Database Correlations
OMIM 267300
References
OMIM :accession 267300