The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.

doi:10.1016/j.kint.2016.12.017

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Article

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.

Kidney international - 1 May 2017

Palazzo Viviana, Provenzano Aldesia, Becherucci Francesca, Sansavini Giulia, Mazzinghi Benedetta, Orlandini Valerio, Giunti Laura, Roperto Rosa Maria, Pantaleo Marilena, Artuso Rosangela, Andreucci Elena, Bargiacchi Sara, Traficante Giovanna, Stagi Stefano, Murer Luisa, Benetti Elisa, Emma Francesco, Giordano Mario, Rivieri Francesca, Colussi Giacomo, Penco Silvana, Manfredini Emanuela, Caruso Maria Rosa, Garavelli Livia, Andrulli Simeone, Vergine Gianluca, Miglietti Nunzia, Mancini Elena, Malaventura Cristina, Percesepe Antonio, Grosso Enrico, Materassi Marco, Romagnani Paola, Giglio Sabrina

Abstract excerpt

Primary distal renal tubular acidosis is a rare genetic disease. Mutations in SLC4A1, ATP6V0A4, and ATP6V1B1 genes have been described as the cause of the disease, transmitted as either an autosomal dominant or recessive trait. Particular clinical features, such as sensorineural hearing loss, have been mainly described in association with mutations in one gene instead of the others. Nevertheless, the diagnosis of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Anion Exchange Protein 1, Erythrocyte

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PMID: 28233610
DOI: 10.1016/j.kint.2016.12.017

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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