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Der Klinikarzt 2013; 42(1): 40-44
DOI: 10.1055/s-0033-1336826
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© Georg Thieme Verlag Stuttgart · New York

Das Gitelman-Syndrom – Diagnostik und Therapie des familiären Hypokaliämie-Hypomagnesiämie-Syndroms

Gitelman syndrome – Familiar hypokalemia hypomagnesemia syndrome
Karsten Keller
1   2. Medizinische Klinik und Poliklinik der Universitätsmedizin Mainz (Direktor: Univ.-Prof. Dr. med. T. Münzel), Centrum für Thrombose und Hämostase Mainz (Direktor: Univ.-Prof. Dr. med. U. Walter)
,
Johannes Beule
2   Abteilung für Innere Medizin des St. Vincenz und Elisabeth Hospitals Mainz (Chefarzt: Prof. Dr. med. W. Dippold)
,
Wolfgang Dippold
2   Abteilung für Innere Medizin des St. Vincenz und Elisabeth Hospitals Mainz (Chefarzt: Prof. Dr. med. W. Dippold)
› Author Affiliations
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Publication History

Publication Date:
08 February 2013 (online)

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Das Gitelman-Syndrom ist eine seltene, autosomal rezessiv vererbte Erkrankung. Mutationen im SLC12A3-Gen führen zu einer gestörten Funktion des Na+Cl--Kotransporters im distalen Tubulus des Nephrons. Typisch sind eine hypokaliämische Alkalose mit Salzverlust, Hypomagnesiämie und Hypocalciurie. Die Symptome umfassen Schwäche, Müdigkeit, Schwindel, Hypotonie, Muskelkrämpfe, Parästhesien, abdominelle Schmerzen, Übelkeit, Erbrechen und Fieber.

Diagnosekriterien nach Bettinelli et al. [3] sind eine normale Urinkonzentrationsfähigkeit der Nieren, eine normale GFR, eine Hypomagnesiämie (< 0,65 mmol/l), eine Hypokaliämie (< 3,6 mmol/l) und eine Hypocalciurie (< 0,1 mmol/mmol Kreatinin). Die Diagnose kann heute durch eine Genanalyse gesichert werden.

Eine kausale Therapie des Gitelman-Syndroms existiert derzeit nicht. K+- und Mg2+-Substitutionen stehen im Vordergrund der Behandlung. Zusätzlich können Gaben von Spironolacton oder Triamteren die Kalium- und Magnesiumverluste verringern.

Die Prognose des Gitelman-Syndroms ist günstig. Die Ergebnisse der bisherigen Untersuchungen weisen auf eine normale Lebenserwartung hin. Bei Patienten mit normotonen oder leicht hypotonen Blutdruckwerten und einer Hypokaliämie sollte ein Gitelman-Syndrom in die differenzialdiagnostischen Überlegungen mit einbezogen werden.

The Gitelman syndrome is a rare inherited autosomal recessive disorder. Mutations in the SLC12A3 gene that encode the distal tubular Na+Cl- cotransporter cause dysfunctions of this cotransporter. The tubulopathy is characterized by hypokalemic metabolic alkalosis in combination with salt losing, hypomagnesemia and hypocalciuria. Symptoms are weakness, vertigo, hypotension, tetany, paresthesias, abdominal pain, nausea, vomiting and fever.

The clinical diagnostic criteria by Bettinelli et al [3] are as follows: normal renal concentrating ability of the urine, normal GFR, hypomagnesemia (<0,65 mmol/l), hypokalemia (< 3,6 mmol/l) and hypocalciuria (< 0,1 mmol/mmol Kreatinin). In former times the Gitelman syndrome was a diagnosis by exclusion. Today genetic analysis can ensure the diagnosis.

No fundamental therapy for the Gitelman syndrome is existing today. The supply of potassium and magnesium are the fundamental therapy. Moreover spironolactone or triamterene can have a benefit in potassium- and magnesium loss.

The prognosis of the Gitelman syndrome is good. The results of the existing examinations point to a normal life expectancy.

In cases of normotension or hypotension and hypokalemia the diagnosis of a Gitelman syndrome should be considered.

Key words

Gitelman - hypokalemia - hypomagnesemia - hypocalciuria - SLC12A3 - NaCl cotransporter
 

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