Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene

Boualla, Lamia; Jdioui, Wafaa; Soulami, Kenza; Ratbi, Ilham; Sefiani, Abdelaziz

doi:10.1016/j.retram.2016.01.005

Cited by 14 publications

(13 citation statements)

References 16 publications

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“…A história familiar deve também ser valorizada. 4 Nesta família, depois do diagnóstico do caso nº 1, no contexto de hematúria e urolitíase, foi possível fazer o diagnóstico dos outros casos descritos, que apesar de assintomáticos já apresentavam alterações analíticas e ecográficas.…”

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“…2 A acidose crónica não tratada pode levar a raquitismo, osteomalácia e litíase. 4,11 Atrasos no diagnóstico têm implicações no crescimento e desenvolvimento da criança. 9 Os doentes adequadamente tratados, geralmente são assintomáticos, sendo o prognóstico excelente, sobretudo quando iniciam tratamento precoce.…”

Section: Discussionunclassified

“…O pH urinário mantém-se elevado (> 5,5) apesar da acidose metabólica. [1][2][3][4][5] A acidose crónica conduz a aumento da reabsorção óssea. O excesso de cálcio que é libertado no sangue associado à diminuição da expressão tubular renal de transportadores de cálcio, na acidose metabólica, causam hipercalciúria.…”

Section: Introductionunclassified

“…3,11 Evolui quase sempre com nefrocalcinose e urolitíase 2,5,6,8,11 que podem progredir para doença renal crónica. 1,4,7,9 O tratamento baseia-se na administração crónica de suplementos alcalinos, sob a forma de bicarbonato ou citrato. 1,3,11 Apresentam-se seis casos de ATRd, de uma mesma família, seguidos na consulta de Nefrologia Pediátrica de um hospital terciário.…”

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Acidose Tubular Renal Distal: Expressão Clínica Variável na Mesma Família

et al. 2019

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Primary distal renal tubular acidosis is a genetic disorder characterized by the inability in acidification of urine. Symptoms are usually non-specific and highly variable. We described six cases in a family with four generations affected. The first case was diagnosed in a 3-year-old child presenting with hematuria and urolithiasis. Later, his sister, sons and two nephews were studied. Although asymptomatic, they all had nephrocalcinosis and hyperchloremic metabolic acidosis with normal anionic gap, except one case with normal arterial blood gas test but with nephrocalcinosis and inability of urinary acidification. At follow-up, they all maintained nephrocalcinosis, the index case had acute renal damage and developed hypertension, but none developed chronic renal disease. The diagnosis of autosomal dominant distal renal tubular acidosis is generally made later and patients tend to present with milder disease. But the condition may manifest early and have a variable phenotypic severity spectrum. Carrying out screening through assessment of family history enables an earlier diagnosis while also allowing treatment to start sooner.

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Acidose Tubular Renal Distal: Expressão Clínica Variável na Mesma Família

et al. 2019

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“…As expected, none of patients harboring SLC4A1 gene defects had deafness because the Cl − /HCO3 − anion exchanger does not express in the ears. It was classically assumed that dRTA caused by defective ATP6V1B1 gene was associated with early nerve hearing loss [7,28,[30][31][32][33], while ATP6V0A4 mutations were related with either late-onset deafness or normal hearing, [34][35][36][37][38][39][40]. Vargas-Poussou et al [41] challenged this assumption demonstrating genetic heterogeneity in dRTA associated with deafness and emphasizing the importance of mutational gene analysis for recessive forms of dRTA independent of Fig.…”

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Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations

et al. 2018

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Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys

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Ayed

Elloumi

et al. 2022

Molec Gen & Gen Med

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Background In the Tunisian population, the molecular analysis of hearing impairment remains based on conventional approaches, which makes the task laborious and enormously expensive. Exploration of the etiology of Hearing Impairment and the early diagnosis of causal mutations by next‐generation sequencing help significantly alleviate social and economic problems. Methods We elaborated a custom SureSelectQXT panel for next‐generation sequencing of the coding sequences of 42 genes involved in isolated hearing impairment or along with defects of the retina, the thyroid, and the kidneys. Results We report eight pathogenic variants, four of which are novel in patients with isolated hearing impairment, hearing impairment, and renal tubular acidosis, Usher syndrome and Pendred syndrome. Functional studies using molecular modeling showed the severe impact of the novel missense mutations on the concerned proteins. Basically, we identified mutations in nuclear as well as mitochondrial genes in a Tunisian family with isolated hearing impairment, which explains definitely the phenotype detected since 2006. Conclusion Our results expanded the mutation spectrum and genotype‒phenotype correlation of isolated and syndromic hearing loss and also emphasized the importance of combining both targeted next‐generation sequencing and detailed clinical evaluation to elaborate a more accurate diagnosis for hearing impairment and related phenotypes especially in North African populations.

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Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene

Cited by 14 publications

References 16 publications

Acidose Tubular Renal Distal: Expressão Clínica Variável na Mesma Família

Acidose Tubular Renal Distal: Expressão Clínica Variável na Mesma Família

Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations

Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys

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