TY - JOUR T1 - A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene JO - Nefrología T2 - AU - Wolyniec,Wojciech AU - Jakubowska,Sonia Kaniuka- AU - Nagel,Mato AU - Wolyniec,Zuzanna AU - Obolonczyk,Lukasz AU - Swiatkowska-Stodulska,Renata AU - Sworczak,Krzysztof AU - Renke,Marcin SN - 02116995 M3 - 10.1016/j.nefro.2015.04.006 DO - 10.1016/j.nefro.2015.04.006 UR - https://www.revistanefrologia.com/es-a-case-report-gitelman-syndrome-articulo-S0211699515000648 AB - IntroductionHypokalaemia is a common clinical problem. A potential but commonly overlooked cause of hypokalaemia is Gitelman syndrome. Material and methodsA 26-year-old man was admitted to the hospital due to syncope with general and muscular weakness and muscle cramps. The patient's history revealed previous recurrent syncope events associated to hypokalaemia with the lowest serum potassium value being 2.6mmol/l. At admission, blood pressure was normal and no changes were found at physical examination. Laboratory tests showed mild hypokalaemia (3.0mmol/l), hypomagnesaemia (1.36mg/dl), hypocalciuria (< 40mg/24h), and metabolic alkalosis (HCO3− 29.7mmol/l, BE 5.3mmol/l). ResultsFurther laboratory tests (FeK, TTKG) confirmed inappropriate kaliuresis. Conn's disease was excluded by hormonal and imaging assessments. Genetic testing was performed and two novel heterozygous mutations: c.35_36insA and c.1095+5G>A were found in transcript NM_000339.2 in SLC12A3 gene. ConclusionThe patient was diagnosed with Gitelman syndrome and was treated with supplements of potassium and magnesium. ER -