title: [Salt appetite, cramps and palpitations in a 21-year old medical secretary].
abstract: Hypokalemia is a common finding. The clinical presentation can be paralyses and cardiac arrhythmias. We present a normotensive young woman with salt appetite, cramps and palpitations. In our case report the patient shows a positive family history for hypopotassemia, a metabolic alkalosis with hypotension, and hypocalciuria with an increased urinary potassium loss. The levels of renin and aldosterone were elevated. After a negative testing for metabolites of diuretics, we obtained a positive result of the suspected SLC12A3 genetic test. This mutation leads to a failure of the thiazide-sensitive sodium-2-chloride-cotransporter, the so called Gitelman syndrome, which presents similar to a chronic thiazide therapy. The Gitelman syndrome is a rare disease with renal potassium loss and hypotension. Especially in young patients around the age of twenty or in patients with chronic intractable hypopotassemia a Gitelman syndrome should be considered.
authors.affiliation: Abteilung für Allgemeine Innere Medizin und Nephrologie, Zentrum für Innere Medizin IV, Robert-Bosch-Krankenhaus, Auerbachstraße 110, 70376, Stuttgart, Deutschland.
authors.forename: D
authors.initials: D
authors.lastname: Kitterer
authors.forename: N
authors.initials: N
authors.lastname: Braun
authors.forename: M D
authors.initials: MD
authors.lastname: Alscher
authors.forename: M
authors.initials: M
authors.lastname: Kimmel
mesh_terms: D001145:Arrhythmias, Cardiac / Q000209:etiology*; D003937:Diagnosis, Differential; D004200:Diseases in Twins / Q000175:diagnosis / Q000235:genetics; D005260:Female; D053579:Gitelman Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007008:Hypokalemia / Q000175:diagnosis* / Q000235:genetics*; D009120:Muscle Cramp / Q000209:etiology*; D011955:Receptors, Drug / Q000235:genetics*; D017673:Sodium Chloride, Dietary / Q000008:administration & dosage*; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters / Q000235:genetics*; D014430:Twins, Monozygotic; D055815:Young Adult
chemical_list: D011955:Receptors, Drug; C578874:SLC12A3 protein, human; D017673:Sodium Chloride, Dietary; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters