Inherited, not acquired, Gitelman syndrome in a patient with Sjögren’s syndrome: importance of genetic testing to distinguish the two forms
| Autor: | Eikan Mishima, Eisei Sohara, Sadayoshi Ito, Shinichi Uchida, Takayasu Mori, Takaaki Abe |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Sodium chloride cotransporter medicine.medical_specialty Case Report Hypokalemia medicine.disease_cause Hypocalciuria 03 medical and health sciences Exon Tubulopathy Internal medicine medicine Hereditary kidney disease Genetic testing Autoimmune disease Mutation medicine.diagnostic_test business.industry General Medicine Gitelman syndrome medicine.disease Exon skip 030104 developmental biology Endocrinology Immunology Hypomagnesemia SLC12A3 medicine.symptom business |
| Zdroj: | CEN Case Reports |
| ISSN: | 2192-4449 |
| Popis: | Gitelman syndrome (GS) is an autosomal recessive, salt-losing renal tubulopathy caused by mutations in the SLC12A3 gene; however, it can also be acquired in patients with autoimmune disease, especially in those with Sjögren’s syndrome. Differentiating between the inherited and acquired forms of GS is clinically difficult. We report a case of inherited, not acquired, GS in a patient with Sjögren’s syndrome. A 41-year-old woman, who had been diagnosed with Sjögren’s syndrome at 27-years-old, had shown chronic hypokalemia (2.5–3.5 mmol/L). Laboratory tests showed hypokalemic alkalosis, hypomagnesemia, and hypocalciuria, corresponding to GS. Although acquired GS associated with Sjögren’s syndrome was initially suspected, a genetic test identified a novel homozygous mutation of c.1336-2A > T in the SLC12A3 gene, which resulted in aberrant splicing in the SLC12A3 transcript with the exclusion of exons 11 and 12. Thus, the GS was diagnosed as not the acquired but the inherited form. In the diagnosis of GS in patients with autoimmune disease, genetic testing of SLC12A3 is essential for differentiating the two forms. Electronic supplementary material The online version of this article (doi:10.1007/s13730-017-0271-4) contains supplementary material, which is available to authorized users. |
| Databáze: | OpenAIRE |
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