Two mutations in the thiazide-sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report

Cristina Gug,1 Adelina Mihaescu,2 Ioana Mozos3,4 1Department of Microscopic Morphology, 22nd Department of Internal Medicine, 3Department of Functional Sciences, 4Center for Translational Research and Systems Medicine, “Victor Babes” University of Medicine and Pharmacy, Timisoara, Romania Background: Gitelman syndrome (GS) is considered as the most common renal tubular disorder, and we report the first Romanian patient with GS confirmed at molecular level and diagnosed according to genetic testing.Patient and methods: This paper describes the case of a 27-year-old woman admitted with severe hypokalemia, slight hypomagnesemia, hypocalcemia, hypocalciuria, metabolic alkalosis, hyperreninemia, low blood pressure, limb muscle weakness, marked fatigue and palpitations. Family history revealed a consanguineous family with autosomal-recessive transmission of GS with two cases over five generations.Results: Next-generation sequencing technology detected two different homozygous mutations c.1805_1806delAT and c.2660+1G>A in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl co-transporter, confirmed by the Sanger method.Conclusion: Clinicians should be aware of the existence of GS, manage the condition properly and consider the risk of disease recurrence to the next generations. Keywords: Gitelman syndrome, hypokalemia, hypomagnesemia, SLC12A3 gene, consanguinity, hirsutis