Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity

摘要: A significant number of patients affected by autosomal recessive primary distal renal tubular acidosis (dRTA) manifest sensorineural hearing loss (SNHL). Mutations in ATP6V1B1 are associated with early onset SNHL, whereas ATP6V0A4 mutations have been described dRTA and late-onset SNHL. Enlarged vestibular aqueduct (EVA) was recently, this abnormality has the gene. In our study, we evaluated presence inner-ear abnormalities four characterized molecular analysis. Two severe SNHL showed same mutation gene bilateral EVA a different degree severity. The other two presented similar clinical manifestations gene: one patient, showing EVA, developed an one, appeared second decade life normal. Our study confirms association demonstrates that can also be probably only when onset. pathophysiology still to defined.