title: A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene.
abstract: BACKGROUND
  Hypokalaemia is a common clinical problem. A potential but commonly overlooked cause of hypokalaemia is Gitelman syndrome.
  
  
  METHODS
  A 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).
  
  
  RESULTS
  Further 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.
  
  
  CONCLUSIONS
  The patient was diagnosed with Gitelman syndrome and was treated with supplements of potassium and magnesium.
authors: Department of Occupational and Internal Medicine, Institute of Maritime and Tropical Medicine, Medical University of Gdansk, Poland. Electronic address: wolyniecwojtek@gmail.com.
authors: Wojciech
authors: W
authors: Wolyniec
authors: Department of Endocrinology and Internal Medicine, Medical University of Gdansk, Poland.
authors: Sonia Kaniuka-
authors: SK
authors: Jakubowska
authors: Center for Nephrology and Metabolic Disorders, Weisswasser, Germany.
authors: Mato
authors: M
authors: Nagel
authors: Department of Nephrology, Transplantology and Internal Medicine, Medical University of Gdansk, Poland.
authors: Zuzanna
authors: Z
authors: Wolyniec
authors: Department of Endocrinology and Internal Medicine, Medical University of Gdansk, Poland.
authors: Lukasz
authors: L
authors: Obolonczyk
authors: Department of Endocrinology and Internal Medicine, Medical University of Gdansk, Poland.
authors: Renata
authors: R
authors: Swiatkowska-Stodulska
authors: Department of Endocrinology and Internal Medicine, Medical University of Gdansk, Poland.
authors: Krzysztof
authors: K
authors: Sworczak
authors: Department of Occupational and Internal Medicine, Institute of Maritime and Tropical Medicine, Medical University of Gdansk, Poland.
authors: Marcin
authors: M
authors: Renke
mesh_terms: D000138:Acidosis / Q000209:etiology; D000328:Adult; D005260:Female; D016368:Frameshift Mutation; D053579:Gitelman Syndrome / Q000097:blood / Q000150:complications / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007008:Hypokalemia / Q000188:drug therapy / Q000209:etiology; D008274:Magnesium / Q000097:blood / Q000627:therapeutic use; D008297:Male; D009120:Muscle Cramp / Q000209:etiology; D018908:Muscle Weakness / Q000209:etiology; D016254:Mutagenesis, Insertional; D009154:Mutation; D011188:Potassium / Q000097:blood / Q000627:therapeutic use; D022821:RNA Splice Sites / Q000235:genetics; D064486:Solute Carrier Family 12, Member 3 / Q000172:deficiency / Q000235:genetics; D013575:Syncope / Q000209:etiology
chemical_list: D022821:RNA Splice Sites; C578874:SLC12A3 protein, human; D064486:Solute Carrier Family 12, Member 3; D008274:Magnesium; D011188:Potassium
keywords: Diuretics; Diuréticos; Hipomagnesemia; Hipopotasemia; Hypokalaemia; Hypomagnesaemia