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Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings

dc.contributor.authorVan der Merwe, Pieter Du Toiten_ZA
dc.contributor.authorRensburg, Megan A.en_ZA
dc.contributor.authorHaylett, William L.en_ZA
dc.contributor.authorBardien, Sorayaen_ZA
dc.contributor.authorDavids, M. Razeenen_ZA
dc.date.accessioned2017-01-27T12:20:34Z
dc.date.available2017-01-27T12:20:34Z
dc.date.issued2017-01-26
dc.identifier.citationVan der Merwe P. du T. et al. 2017. Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings. BMC Nephrology, 18:38, doi:10.1186/s12882-017-0455-3.
dc.identifier.issn1471-2369 (online)
dc.identifier.otherdoi:10.1186/s12882-017-0455-3
dc.identifier.urihttp://hdl.handle.net/10019.1/100548
dc.descriptionCITATION: Van der Merwe P. du T. et al. 2017. Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings. BMC Nephrology, 18:38, doi:10.1186/s12882-017-0455-3.
dc.descriptionThe original publication is available at https://bmcnephrol.biomedcentral.com
dc.description.abstractBackground Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterised by renal salt wasting with hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by mutations in SLC12A3 encoding the sodium-chloride cotransporter on the apical membrane of the distal convoluted tubule. We report a South African family with five affected individuals presenting with hypokalaemia and unusual food cravings. Methods The affected individuals and two unaffected first degree relatives were enrolled into the study. Phenotypes were evaluated through history, physical examination and biochemical analysis of blood and urine. Mutation screening was performed by sequencing of SLC12A3, and determining the allele frequencies of the sequence variants found in this family in 117 ethnically matched controls. Results The index patient, her sister, father and two aunts had a history of severe salt cravings, fatigue and tetanic episodes, leading to consumption of large quantities of salt and vinegar. All affected individuals demonstrated hypokalaemia with renal potassium wasting. Genetic analysis revealed that the pseudo-dominant pattern of inheritance was due to compound heterozygosity with two novel mutations: a S546G substitution in exon 13, and insertion of AGCCCC at c.1930 in exon 16. These variants were present in the five affected individuals, but only one variant each in the unaffected family members. Neither variant was found in any of the controls. Conclusions The diagnosis of GS was established in five members of a South African family through clinical assessment, biochemical analysis and mutation screening of the SLC12A3 gene, which identified two novel putative pathogenic mutations.en_ZA
dc.description.abstractAFRIKAANSE OPSOMMING: Geen opsomming beskikbaaraf_ZA
dc.description.urihttps://bmcnephrol.biomedcentral.com/articles/10.1186/s12882-017-0455-3
dc.format.extent8 pagesen_ZA
dc.language.isoen_ZAen_ZA
dc.publisherBioMed Central
dc.subjectGitelman syndromeen_ZA
dc.subjectHypokalaemiaen_ZA
dc.subjectMutation (Biology) -- Screening, Medicalen_ZA
dc.subjectRenal tubular transport, Disorders ofen_ZA
dc.titleGitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravingsen_ZA
dc.typeArticleen_ZA
dc.date.updated2017-01-27T07:02:26Z
dc.description.versionPublisher's version
dc.rights.holderAuthors retain copyright


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