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

Maurizio Genuardi, Elena Andreucci, Benedetta Bianchi, Ilaria Carboni, Giancarlo Lavoratti, Marzia Mortilla, Claudio Fonda, Minna Bigozzi, Sabrina Giglio, Ivana Pela

Risultato della ricerca: Contributo in rivistaArticolo in rivista

28 Citazioni (Scopus)

Abstract

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 in dRTA and late-onset SNHL. Enlarged vestibular aqueduct (EVA) was described in patients with recessive dRTA and SNHL, and recently, this abnormality has been associated with mutations in the ATP6V1B1 gene. In our study, we evaluated the presence of inner-ear abnormalities in four patients affected by dRTA and SNHL, characterized by molecular analysis. Two patients affected by severe dRTA with early onset SNHL showed the same mutation in the ATP6V1B1 gene and bilateral EVA with a different degree of severity. The other two presented similar clinical manifestations of dRTA and different mutations in the ATP6V0A4 gene: one patient, showing EVA, developed an early SNHL, whereas in the other one, the SNHL appeared in the second decade of life and the vestibular aqueduct was normal. Our study confirms the association of EVA and mutations in the ATP6V1B1 gene and demonstrates that mutations in the ATP6V0A4 gene can also be associated with EVA probably only when the SNHL has an early onset. The pathophysiology of SNHL and EVA are still to be defined.
Lingua originaleEnglish
pagine (da-a)2147-2153
Numero di pagine7
RivistaPediatric Nephrology
Volume24
DOI
Stato di pubblicazionePubblicato - 2009

Keywords

  • DEAFNESS
  • HOMEOSTASIS
  • KIDNEY
  • LARGE VESTIBULAR AQUEDUCT
  • MUTATIONS
  • RENAL TUBULAR-ACIDOSIS
  • SENSORINEURAL HEARING-LOSS
  • SUBUNIT
  • TRANSCRIPTION FACTOR FOXI1
  • TRANSPORT

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