Distal renal tubular acidosis is characterized by an impaired H+-ion secret
ion in the distal tubulus. This may cause meta belie acidosis. Among others
, patients suffer from retardation and nephrocalcinosis. Here we report abo
ut a 3 years old patient with drtA and sensorineural hearing loss.
ATP6B1 gene mutation was recently found in patients with drtA sensorineural
hearing loss. ATP6B1 expression was demonstrated immunohistochemically in
the mouse cochlea and endolymphatic sac. ATP6B1 mRNA was found in the fetal
and adult human cochlea. These findings suggest that sensorineural hearing
loss in drtA is caused by an disturbed pH homeostasis induced by ATP6B1 mu
tation.