Audiometric and imaging characteristics of distal renal tubular acidosis and deafness

Joshua, Ben‐Zion; Kaplan, Daniel M.; Raveh, Eyal; Lotan, Danny; Anikster, Yair

doi:10.1017/s0022215107009747

Cited by 31 publications

(24 citation statements)

References 33 publications

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“…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. 7 However, there is more and more evidence that these two recessive forms of dRTA are genetically more heterogeneous in the auditory phenotype than previously assumed. A few cases harbored ATP6V1B1 mutations without SNHL have been described.…”

Section: Introductionmentioning

confidence: 99%

Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis

Gao

et al. 2014

Renal Failure

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The objective of this study is to identify ATP6V1B1, ATP6V0A4 and SLC4A1 genes mutations and assess audiologic characteristics in six Chinese children with primary distal renal tubular acidosis from four unrelated families between the ages of 2 and 13 years. Both ATP6V0A4 and ATP6V1B1 genes were preferentially screened in all index cases by direct sequence analysis. If inconclusive then SLC4A1 gene should be analyzed for mutation. Their clinical features, hearing status and inner ear imaging structure were also investigated. Six loss-of-function mutations were identified in six patients. Two novel mutations were identified in either of ATP6V0A4 and ATP6V1B1 genes, respectively. Two probands from different kindreds with mutations in ATP6V1B1 presented early onset profound sensorineural hearing loss (SNHL) and enlarged vestibular aqueduct (EVA). Two from different families carrying ATP6V0A4 mutations manifested early onset moderate mixed HL and moderate SNHL, respectively, the former comorbid with EVA, while the latter not; however, both their elder sisters showed normal hearing and inner ear. These findings expand the spectrum of mutations in the ATP6V0A4 and ATP6V1B1 genes associated with primary dRTA. Our study confirms the association of EVA and mutations in either of these two genes. More studies are necessary to clarify the relationship between dRTA, SNHL, EVA, and gene mutations.

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Section: Introductionmentioning

confidence: 99%

Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis

Gao

et al. 2014

Renal Failure

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“…However, only in the study of Joshua et al were several types of mutations in the ATP6V1B1 gene found to be associated with inner-ear morphological alterations and a typical progressive hearing loss. Patients had EVA, with no other abnormalities being observed on imaging [11].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2009

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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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“…Some data from both groups had been included in previous publications [11,12,13]. We now added 8 heretofore non-published cases.…”

Section: Resultsmentioning

confidence: 99%

Familial Autosomal Recessive Renal Tubular Acidosis: Importance of Early Diagnosis

Vivante¹,

Lotan

Pode‐Shakked

et al. 2011

Nephron Physiol

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Background and Aims: Untreated renal tubular acidosis (RTA) can result in severe complications. We reviewed the clinical features of patients with mutations in two genes causing RTA and evaluated their developmental expression assuming that timing, symptom severity and complications may be related to its occurrence. Methods: Clinical data from 16 patients with RTA due to mutations in either ATP6V1B1 or CAII were retrospectively reviewed. Both genes’ localization and expression pattern in the developing human kidney were analyzed by real-time polymerase chain reaction and immunostaining. Results: RTA-presenting symptoms were non-specific. Patients with mutations in ATP6V1B1 had earlier presentation (4.9 vs. 11 months, p < 0.041) and longer time to diagnosis than patients with CAII mutations (5.8 vs. 57 months, p < 0.01). Patients with ATP6V1B1 mutations were more likely to develop chronic kidney disease than those with CAII mutations (follow-up GFR values: 89 vs. 110 ml/min/1.73 m², respectively, p < 0.017), probably secondary to nephrocalcinosis. Both ATP6V1B1 and CAII were expressed early during human nephrogenesis, with relatively higher transcript levels of ATP6V1B1. Conclusions: There is considerable delay in establishing a diagnosis of both types of RTA, supporting the need for earlier biochemical investigation. RTA due to ATP6V1B1 mutations is associated with mild progressive loss of kidney function.

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Audiometric and imaging characteristics of distal renal tubular acidosis and deafness

Abstract: 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.

Cited by 31 publications

References 33 publications

Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis

Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis

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

Familial Autosomal Recessive Renal Tubular Acidosis: Importance of Early Diagnosis

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