Distal Renal Tubular Acidosis
Autoszomális recesszív
An inherited inability of the kidney's collecting ducts to excrete acid, caused by variants in SLC4A1, ATP6V1B1, ATP6V0A4 and other genes; some forms also cause hearing loss.
Mit változtat a diagnózis
Alkali treatment can prevent kidney calcification and growth problems, and some forms warrant a hearing assessment.
Más néven
classic RTA; distal renal tubular acidosis (disease); dRTA; familial distal primary acidosis; Primary Distal Renal Tubular Acidosis; renal tubular acidosis type 1
7 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- acquired distal renal tubular acidosis
- autosomal dominant distal renal tubular acidosis
- autosomal recessive distal renal tubular acidosis
- inherited distal renal tubular acidosis
- renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
- renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
- renal tubular acidosis, distal, 4, with hemolytic anemia
