Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report

Renal Failure ◽  
2014 ◽  
Vol 36 (5) ◽  
pp. 808-810 ◽  
Author(s):  
Engin Kose ◽  
Seda Sirin Kose ◽  
Caner Alparslan ◽  
Belde Kasap Demir ◽  
Afig Berdeli ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Sensorineural Hearing Loss ◽  
Renal Tubular Acidosis ◽  
Early Onset ◽  
Distal Renal Tubular Acidosis ◽  
Sensorineural Hearing ◽  
Renal Tubular

Distal Renal Tubular Acidosis Associated with Isolated Large Vestibular Aqueduct and Sensorineural Hearing Loss

2002 ◽  
Vol 111 (5) ◽  
pp. 385-391 ◽  
Author(s):  
Stefano Berrettini ◽  
Francesca Ravecca ◽  
Francesca Forli ◽  
Mauro Massimetti ◽  
Stefano Sellari Franceschini ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Renal Tubular Acidosis ◽  
Distal Renal Tubular Acidosis ◽  
Sensorineural Hearing ◽  
Molecular Defect ◽  
Recessive Trait ◽  
Vestibular Aqueduct ◽  
Recessive Form ◽  
Renal Tubular

Distal renal tubular acidosis (dRTA) is characterized by a defect in urinary acidification with various degrees of metabolic acidosis; it can be inherited either as an autosomal dominant trait or as a recessive trait. The recessive form is associated in about one third of cases with progressive sensorineural hearing loss (SNHL). We performed a neuroradiological study in 3 consecutive unrelated pediatric patients affected with sporadic dRTA and progressive SNHL that disclosed an enlarged vestibular aqueduct (VA) and endolymphatic sac (ES) in each. The presence of an enlarged VA in our patients with dRTA and SNHL could contribute to the development, or at least the progression, of the hearing impairment. We suppose that the same molecular defect present in both the kidney and the inner ear could be the cause of dRTA and of the development of the enlarged VA and ES.

Hearing impairment in association with distal renal tubular acidosis among Saudi children

1995 ◽  
Vol 109 (10) ◽  
pp. 930-934 ◽  
Author(s):  
Siraj M. Zakzouk ◽  
Samia H. Sobki ◽  
Faizeh Mansour ◽  
Fatma H. Al Anazy
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Renal Tubular Acidosis ◽  
Genetic Disorder ◽  
Distal Renal Tubular Acidosis ◽  
Sensorineural Hearing ◽  
Arranged Marriages ◽  
Renal Tubular ◽  
Tribal Tradition ◽  
Conductive Hearing

AbstractA follow-up of seven patients with the autosomal recessive inherited syndrome of distal renal tubular acidosis (RTA) and sensorineural hearing loss is described. Five patients were diagnosed as having primary distal renal tubular acidosis and rickets, four were found to have severe sensorineural hearing loss of over 80 dB: two of which are brothers. Two patients were diagnosed as having secondary distal renal acidosis due to a genetic disorder called osteopetrosis; they are brothers and their audiograms showed a mild conductive hearing loss of an average 35 dB bilaterally. All patients had growth retardation with improvement due to alkaline therapy but their hearing loss was not affected by the medication. The pedigrees of two families with half sibs showed the familial incidence for consanguineous marriage. Consanguinity was found to be positive in five out of the seven patients. The tribal tradition in Saudi Arabia fosters consanguineous marriages for cultural and social reasons and pre-arranged marriages are still seen.

Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families

2014 ◽  
Vol 128 (12) ◽  
pp. 1056-1059 ◽  
Author(s):  
F Zeinali ◽  
M Mohseni ◽  
M Fadaee ◽  
Z Fattahi ◽  
H Najmabadi ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Renal Tubular Acidosis ◽  
Nucleotide Substitution ◽  
Late Onset ◽  
Distal Renal Tubular Acidosis ◽  
Sensorineural Hearing ◽  
Research Centre ◽  
Genetic Mutations ◽  
Renal Tubular

AbstractBackground:Hearing defects are the most common sensory disorders, affecting 1 out of every 500 newborns. ATP6V1B mutations are associated with early sensorineural hearing loss, whereas ATP6V0A4 mutations are classically associated with either late-onset sensorineural hearing loss or normal hearing. ATP6V1B1 and ATP6V0A4 genetic mutations cause recessive forms of distal renal tubular acidosis.Method:Ten unrelated deaf Iranian families with distal renal tubular acidosis were referred to the Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran. All exons of the ATP6V1B1 and ATP6V0A4 genes were sequenced in affected family members.Results:We identified a previously reported ATP6V1B1 frameshift mutation (P385fsX441) in two families and a nucleotide substitution in exon 10 (P346R) in three families. In addition, one patient was homozygous for a novel nucleotide substitution in exon 3.Conclusion:ATP6V1B1 genetic mutations were detected in more than half of the families studied. Mutations in this gene therefore seem to be the most common causative factors in hearing loss associated with distal renal tubular acidosis in these families.

Audiometric and imaging characteristics of distal renal tubular acidosis and deafness

2007 ◽  
Vol 122 (2) ◽  
pp. 193-198 ◽  
Author(s):  
B Joshua ◽  
D M Kaplan ◽  
E Raveh ◽  
D Lotan ◽  
Y Anikster
Keyword(s):  
Computed Tomography ◽  
Hearing Loss ◽  
High Resolution ◽  
Sensorineural Hearing Loss ◽  
Renal Tubular Acidosis ◽  
Distal Renal Tubular Acidosis ◽  
Sensorineural Hearing ◽  
High Resolution Computed Tomography ◽  
Atp6v1b1 Gene ◽  
Renal Tubular

AbstractObjective:Primary distal renal tubular acidosis with sensorineural hearing loss is a rare autosomal recessive disease, usually caused by mutations in the ATP6V1B1 gene. The aim of this study was to characterise the phenotype of this disease, with emphasis on the auditory findings, in a cohort of Israeli children.Study design:Prospective study of five children, from three unrelated families, with distal renal tubular acidosis and bilateral sensorineural hearing loss, with mutations in the ATP6V1B1 gene.Methods:The following were collected from patients' medical records: biochemical and renal data, age at distal renal tubular acidosis diagnosis, and age at hearing loss. Hearing loss progression as well as current hearing status were assessed, and high resolution computed tomography of the temporal bone was performed. All patients underwent genetic testing.Results:Four patients were diagnosed with distal renal tubular acidosis before the age of six months and one at 24 months. All had the classical findings of low blood pH and inappropriately high urine pH. Hearing loss was diagnosed between the ages of three months and two years. The hearing loss was bilateral, asymmetrical and progressive, occasionally with a conductive component. Two children underwent cochlear implantation, at ages 10 and 15 years. High resolution computed tomography, performed in four patients between the ages of 2.5 and 15 years, showed bilaterally enlarged vestibular aqueducts. This was the only radiological abnormality in the inner ear in all cases. A different mutation in the ATP6V1B1 gene was found in each family.Conclusion:Several types of mutations in the ATP6V1B1 gene may cause distal renal tubular acidosis and sensorineural hearing loss. Patients display a typical progressive type of hearing loss and have enlarged vestibular aqueducts, with no other abnormalities being observed on imaging.

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