ArticlePediatric nephrology (Berlin, Germany)2009
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity.
Article in Pediatric nephrology (Berlin, Germany), 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 33 citations in OpenAlex.
- Bilateral Enlarged Vestibular Aqueduct: Auditory, Genetic and Radiological Characterization, and Benefits of Cochlear Implants.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2025Article
- Distal renal tubular acidosis: a systematic approach from diagnosis to treatment.Journal of nephrology · 2021Review
- Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review.Audiology research · 2021Review
- Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.Pediatric nephrology (Berlin, Germany) · 2018Article
- Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts.Human molecular genetics · 2017Article
- Acidosis and Urinary Calcium Excretion: Insights from Genetic Disorders.Journal of the American Society of Nephrology : JASN · 2016Review
- Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.Molecular genetics & genomic medicine · 2016Article
- Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.Pediatric research · 2016Article
- Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney Disorders.Journal of the American Society of Nephrology : JASN · 2015Article
- A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family.Journal of genetics · 2014Article
- ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.Renal failure · 2013Article
- Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.Disease models & mechanisms · 2013Article
- A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule.EMBO molecular medicine · 2012Article
- Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Endolymphatic sac enlargement in a girl with a novel mutation for distal renal tubular acidosis and severe deafness.Case reports in pediatrics · 2012Article
- Why is hypercalciuria absent at diagnosis in some children with ATP6V1B1 mutation?Pediatric nephrology (Berlin, Germany) · 2011Article
- Importance of early audiologic assessment in distal renal tubular acidosis.International medical case reports journal · 2011Article
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Authors and funding
10 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
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.
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