title: [Sensorineural hearing loss in distal renal tubular acidosis, nephrocalcinosis and microcytic anemia].
abstract: Distal renal tubular acidosis is characterized by an impaired H(+)-ion secretion in the distal tubulus. This may cause metabolic acidosis. Among others, patients suffer from retardation and nephrocalcinosis. Here we report about 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 mutation.
authors.affiliation: Klinik und Poliklinik für Phoniatrie und Pädaudiologie, Medizinische Hochschule, Carl Neuberg-Strasse 1, 30625 Hannover.
authors.forename: M
authors.initials: M
authors.lastname: Ptok
mesh_terms: D000141:Acidosis, Renal Tubular / Q000175:diagnosis / Q000235:genetics*; D000740:Anemia / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007686:Kidney Tubules, Distal; D007805:Language Development Disorders / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009397:Nephrocalcinosis / Q000175:diagnosis / Q000235:genetics*