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      Genetic Diagnosis and Treatment of Inherited Renal Tubular Acidosis

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          Abstract

          Background

          Renal tubular acidosis (RTA) is caused by various disruptions to the secretion of H + by distal renal tubules and/or dysfunctional reabsorption of HCO 3 − by proximal renal tubules, which causes renal acidification dysfunction, ultimately leading to a clinical syndrome characterized by hyperchloremic metabolic acidosis with a normal anion gap. With the development of molecular genetics and gene sequencing technology, inherited RTA has also attracted attention, and an increasing number of RTA-related pathogenic genes have been discovered and reported.

          Summary

          This paper focuses on the latest progress in the research of inherited RTA and systematically reviews the pathogenic genes, protein functions, clinical manifestations, internal relationship between genotypes and clinical phenotypes, diagnostic clues, differential diagnosis, and treatment strategies associated with inherited RTA. This paper aims to deepen the understanding of inherited RTA and reduce the missed diagnosis and misdiagnosis of RTA.

          Key Messages

          This review systematically summarizes the pathogenic genes, pathophysiological mechanisms, differential diagnosis, and treatment of different types of inherited RTA, which has good clinical value for guiding the diagnosis and treatment of inherited RTA.

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          Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.

          A N Smith, J Skaug, K A Choate … (2000)
          The multi-subunit H+-ATPase pump is present at particularly high density on the apical (luminal) surface of -intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. The complete subunit composition of the apical ATPase, however, has not been fully agreed upon. Functional failure of -intercalated cells results in a group of disorders, the distal renal tubular acidoses (dRTA), whose features include metabolic acidosis accompanied by disturbances of potassium balance, urinary calcium solubility, bone physiology and growth. Mutations in the gene encoding the B-subunit of the apical pump (ATP6B1) cause dRTA accompanied by deafness. We previously localized a gene for dRTA with preserved hearing to 7q33-34 (ref. 4). We report here the identification of this gene, ATP6N1B, which encodes an 840 amino acid novel kidney-specific isoform of ATP6N1A, the 116-kD non-catalytic accessory subunit of the proton pump. Northern-blot analysis demonstrated ATP6N1B expression in kidney but not other main organs. Immunofluorescence studies in human kidney cortex revealed that ATP6N1B localizes almost exclusively to the apical surface of -intercalated cells. We screened nine dRTA kindreds with normal audiometry that linked to the ATP6N1B locus, and identified different homozygous mutations in ATP6N1B in eight. These include nonsense, deletion and splice-site changes, all of which will truncate the protein. Our findings identify a new kidney-specific proton pump 116-kD accessory subunit that is highly expressed in proton-secreting cells in the distal nephron, and illustrate its essential role in normal vectorial acid transport into the urine by the kidney.
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            Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

            E H Stover, K J Borthwick, C Bavalia … (2002)
            Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokalaemia, decreased urinary calcium solubility, and impaired bone physiology and growth. Two types of rdRTA have been differentiated by the presence or absence of sensorineural hearing loss, but appear otherwise clinically similar. Recently, we identified mutations in genes encoding two different subunits of the renal alpha-intercalated cell's apical H(+)-ATPase that cause rdRTA. Defects in the B1 subunit gene ATP6V1B1, and the a4 subunit gene ATP6V0A4, cause rdRTA with deafness and with preserved hearing, respectively. We have investigated 26 new rdRTA kindreds, of which 23 are consanguineous. Linkage analysis of seven novel SNPs and five polymorphic markers in, and tightly linked to, ATP6V1B1 and ATP6V0A4 suggested that four families do not link to either locus, providing strong evidence for additional genetic heterogeneity. In ATP6V1B1, one novel and five previously reported mutations were found in 10 kindreds. In 12 ATP6V0A4 kindreds, seven of 10 mutations were novel. A further nine novel ATP6V0A4 mutations were found in "sporadic" cases. The previously reported association between ATP6V1B1 defects and severe hearing loss in childhood was maintained. However, several patients with ATP6V0A4 mutations have developed hearing loss, usually in young adulthood. We show here that ATP6V0A4 is expressed within the human inner ear. These findings provide further evidence for genetic heterogeneity in rdRTA, extend the spectrum of disease causing mutations in ATP6V1B1 and ATP6V0A4, and show ATP6V0A4 expression within the cochlea for the first time.
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              Renal Tubular Acidosis: The Clinical Entity

              J. Rodriguez Soriano (2002)
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                Author and article information

                Journal
                Journal ID (nlm-ta): Kidney Dis (Basel)
                Journal ID (iso-abbrev): Kidney Dis (Basel)
                Journal ID (hwp): KDD
                Journal ID (publisher-id): KDD
                Title: Kidney Diseases
                Publisher: S. Karger AG (Basel, Switzerland )
                ISSN (Print): 2296-9381
                ISSN (Electronic): 2296-9357
                Publication date (Electronic): 20 June 2023
                Publication date Collection: October 2023
                Volume: 9
                Issue: 5
                Pages: 371-383
                Affiliations
                [a ]Department of Nephrology, First Medical Center of Chinese PLA General Hospital, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing, China
                [b ]School of Medicine, Nankai University, Tianjin, China
                Author notes
                Correspondence to: Yuansheng Xie, xieyuansn@ 123456hotmail.com
                Article
                Publisher ID: 531556
                DOI: 10.1159/000531556
                PMC ID: 10601937
                PubMed ID: 37901710
                SO-VID: f0bf4544-9a00-4705-b65e-630104811f54
                Copyright © © 2023 The Author(s). Published by S. Karger AG, Basel
                License:

                This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC) ( http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.

                History
                Date received : 5 January 2023
                Date accepted : 12 June 2023
                Date: 2023
                Page count
                Figures: 2, Tables: 1, References: 72, Pages: 13
                Funding
                This study was supported by the National Natural Science Foundation of China (81774027) and the National Basic Research Program of China (2011CB944004).
                Categories
                Subject: Review Article

                Keywords: renal tubular acidosis,heritability,pathogenic gene,protein function,clinical manifestation,differential diagnosis
                Data availability:
                Keywords: renal tubular acidosis, heritability, pathogenic gene, protein function, clinical manifestation, differential diagnosis

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