Gitelman Syndrome Diagnosed in a Woman in the Second Trimester of Pregnancy

Abstract

Gitelman syndrome is a rare renal tubule disease characterized by hypokalaemia, metabolic alkalosis, hypomagnesaemia, hypocalciuria and normal blood pressure. It shows autosomal recessive inheritance and is usually not diagnosed until late childhood or adulthood. We report the case of 34-year-old woman who at 21 weeks of pregnancy was admitted to the gynaecology department for abdominal pain, muscle cramps and weakness. Routine blood tests showed hypokalaemia (2.32 mEq/l), hypomagnesaemia (1.18 mEq/l), compensated metabolic alkalosis (pH 7.439, bicarbonate 26.1 mmol/l), increased urinary magnesium excretion (140.25 mg/day, normal range 73–122 mg/day) and reduced urinary calcium excretion (49.25 mg/day, normal range 100–250 mg/day). In light of these findings, the patient was diagnosed with Gitelman syndrome and optimum potassium and magnesium levels were maintained with oral supplements. LEARNING POINTS Gitelman syndrome is a rare genetic disease which can affect women of childbearing age. There is no evidence-based treatment algorithm for treating pregnant patients with Gitelman syndrome. Electrolyte disturbances and their treatment in pregnant patients can be challenging since many drugs have limited safety data.

NMDA Autoimmune Encephalitis and Severe Persistent Hypokalemia in a Pregnant Woman

“…Gitelman syndrome is a rare disease, recessively inherited, caused by mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter [ 18 ]; but apart from this, Gitelman-like syndromes exist and case are reported, including in pregnant women [ 19 ]. Persistent hypokalemia is a part of the Gitelman syndrome, a rare form of wasting salt nephropathy.…”

Gitelman Syndrome in a Pregnant Woman

“…There have been very few case reports on Gitelman syndrome in pregnancy, and most of them show favourable outcomes [3][4][5] , but there are also reports of adverse consequences of the fetus [6] . In this case, the patient suffered from hyperemesis gravidarum, which could lead to a decrease in serum potassium level.…”

Anaesthesia for emergency caesarean section in a patient with Gitelman syndrome

“…Gitelman syndrome is a rare autosomal recessive renal tubular disease characterized by hypokalaemia, hypomagnesaemia, metabolic alkalosis and low urinary calcium excretion. [ 4 ] Presentation is usually seen in late childhood with parasthesia and generalized weakness. [ 2 ] There are case reports of chondrocalcinosis developing in these patients from severe hypomagnesaemia.…”

“…[ 2 ] Increased foetal demands, hyper-emesis, diarrhoea during pregnancy may tilt the balance in pregnant patients with Gitelman syndrome. [ 4 5 ] In a case series of five patients with Gitelman syndrome by Mascetti et al ., four of them had uneventful pregnancy but one was complicated by fatigue and tetanic seizures. [ 6 ] Seizure could be due to hypomagnesemia and metabolic alkalosis.…”