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

Zakzouk, Siraj M.; Sobki, Samia H.; Mansour, Faizeh; Anazy, Fatma H. Al

doi:10.1017/s0022215100131706

Cited by 33 publications

(18 citation statements)

References 9 publications

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“…This proposed mechanism can explain the clinical observation that systemic alkali therapy, although correcting systemic pH, fails to prevent progressive hearing loss in dRTA patients 9,10 . We speculate that the failure of this treatment to address the abnormal endolymphatic physiology accounts for the progressive hearing loss.…”

Section: Discussionmentioning

confidence: 94%

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Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

et al. 1999

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H+-ATPases are ubiquitous in nature; V-ATPases pump protons against an electrochemical gradient, whereas F-ATPases reverse the process, synthesizing ATP. We demonstrate here that mutations in ATP6B1, encoding the B-subunit of the apical proton pump mediating distal nephron acid secretion, cause distal renal tubular acidosis, a condition characterized by impaired renal acid secretion resulting in metabolic acidosis. Patients with ATP6B1 mutations also have sensorineural hearing loss; consistent with this finding, we demonstrate expression of ATP6B1 in cochlea and endolymphatic sac. Our data, together with the known requirement for active proton secretion to maintain proper endolymph pH, implicate ATP6B1 in endolymph pH homeostasis and in normal auditory function. ATP6B1 is the first member of the H+-ATPase gene family in which mutations are shown to cause human disease.

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Section: Discussionmentioning

confidence: 94%

“…In addition, a substantial fraction of these patients have progressive bilateral sensorineural hearing loss 5-10 (SNHL). Simple alkali replacement can correct the systemic metabolic defects, but such treatment does not appear to ameliorate or prevent progression of hearing loss 10 .…”

Section: Introductionmentioning

confidence: 99%

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

et al. 1999

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“…Sustained correction of the acidosis may have had a protective effect on the development and progression of deafness in this patient. Although it has been suggested that alkali treatment does not prevent the progression of hearing impairment [12], the late development of hearing loss in some patients with distal RTA linked to ATP6V0A4 mutations might be related with inappropriate sustained control of acidosis.…”

Section: Discussionmentioning

confidence: 99%

Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children

et al. 2007

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Distal renal tubular acidosis (RTA) with nerve deafness is caused by mutations in the ATP6V1B1 gene causing defective function of the H+ -ATPase proton pump. We report five acidotic children (four males) from four unrelated families: blood pH 7.21-7.33, serum bicarbonate 10.8-14.7 mEq/l, minimum urinary pH 6.5-7.1 and fractional excretion of bicarbonate in the presence of normal bicarbonatemia 1.1-5.7%. Growth retardation and nephrocalcinosis, but not hypercalciuria, were common presenting manifestations. Hearing was normally preserved in one of the patients whose sister was severely deaf. One child was homozygous for a known mutation in exon 1: C>T (R31X). Three children were homozygous for a splicing mutation, intron 6 + 1G>A. The other patient was a compound heterozygote, having this mutation and a previously unreported mutation in exon 10: G>A (E330K). Our report shows that hearing loss is not always present in the syndrome of distal renal tubular acidosis with nerve deafness and the absence of hypercalciuria at diagnosis and describes a new mutation responsible for the disease in the ATP6V1B1 gene.

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“…The association of dRTA and hearing loss (HL) was first noted in 1967 [2], and since that time several patients with this clinical condition have been reported [3,4]. Recently, the identification of the causative genes for dRTA has provided considerable progress in understanding the pathophysiology of this group of disorders [1].…”

Section: Introductionmentioning

confidence: 99%

NovelATP6V1B1mutations in distal renal tubular acidosis and hearing loss

Yashima¹,

Noguchi²,

Kawashima³

et al. 2010

Acta Oto-Laryngologica

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The findings of DPOAEs and ABRs indicated cochlear HL. The vestibular function was thought to be mildly impaired according to the caloric responses and VEMP findings. Two novel ATP6V1B1 mutations of a heterozygous 15 base-pair deletion (c.756_770del) in exon 7 and a heterozygous 1 base-pair insertion (c.1242_1243insC) in exon 12 were detected in a compound heterozygous state. No mutation was identified in either SLC26A4 or GJB2.

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

Cited by 33 publications

References 9 publications

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children

NovelATP6V1B1mutations in distal renal tubular acidosis and hearing loss

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