[MIM 263 800]

(Familial hypokalemia and hypomagnesemia)

Rare: 1/40,000. Autosomal recessive transmission of a mutation of the SLC12A3 gene  (on 16q13) causing an abnormality of NaCl transport at the level of the distal renal tubule (diuretics thiazide-sensitive channel) causing hypomagnesemia, hypocalciuria and a secondary hyperaldosteronism, which in turn causes hypokalemia, hypocalcemia and metabolic alkalosis. Some cases are caused by a mutation in the CLCNKB gene (chloride channel). The diagnosis is usually made around adolescence. 

Clinical presentation: muscle cramps, fatigue, polyuria, sometimes attacks of tetany or chondrocalcinosis (pseudogout arthritis). 

Traitement: supplements of Mg, Cl and K.  Sometimes treatment with NSAIDs (indomethacin) to decrease the loss of K and the synthesis of aldosterone.

In case of severe hypokalemia (less than 2 mmol/l), there is a risk of rhabdomyolysis (elevation of CPK level, myoglobinuria and muscle pain): this risk is particularly important in case of interruption of the prescribed treatment (intercurrent illness, diarrhea etc.).

Anesthetic implications: 

check blood electrolytes. Give supplements of Mg and K. Check the ECG : risk of  long QT of electrolytic origin. Risk of rhabdomyolysis  and ventricular rhythm disorders due to hypokalemia. Risk of arterial hypotension linked to a relative hypovolemia and to a possible decreased response to angiotensin II and other vasopressors. Monitoring of the curarization.

References : 

-        Bolton J, Mayhew JF. 
Anesthesia in a patient with Gitelman syndrome. 
Anesthesiology 2006; 105: 1064-5.

-        Shanbhag S, Neil J, Howell C. 
Anaesthesia for caesarian section in a patient with Gitelman’s syndrome. 
Int J Obstetr Anesth 2010;  19: 451-3.

-         Farmer JD, Vasdev GM, Martin DP. 
Perioperative considerations in patients with Gitelman syndrome: a case series. 
J Clin Anesth 2012; 24: 14-8.

-         Kumagai H, Matsumoto S, Nozu K. 
Hypokalemic rhabdomyolysis in a child with Gitelman’s disease. 
Pediatr Nephrol 2010 ; 25 : 953-5.

-         von Vigier RO, Ortisi MT, La Manna A, Bianchetti MG, Bettinelli A. 
Hypokalemic rhabdomyolysis in congenital tubular disorders : a case series and a systematic review. 
Pediatr Nephrol 2010 ; 25 : 861-6.

Updated: April 2019