Gitelman Syndrome in Maternity Ward an Uncommon Entity

Gitelman syndrome (GS), familial hypokalaemia -hypomagnesemia, is an autosomal recessive salt-losing renal tubulopathy that is characterised by hypomagnesemia, hypocalciuric and secondary aldosteronism, which is responsible hypokalaemia and metabolic alkalosis. The prevalence is estimated at 25 million [1].

In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood. Transient periods of muscle weakness and tetany, sometimes accompanied by abdominal pain, vomiting and fever are often seen in GS patients. Paraesthesia, especially in the face, frequently occur. Chondrocalcinosis can be present in some patient.

GS is transmitted as an autosomal recessive trait. Mutations in the solute carrier family12, member 3 gene, SLC12A3, which encodes the thiazide sensitive NaCl cotransporter (NCC)is present. At present, more than 140 different NCC mutations exist. mutations in the CLCNKB gene, encoding the chloride channel ClC-Kb have been identified [2].

Diagnosis is based on the clinical symptoms and biochemical abnormalities (hypokalaemia, metabolic alkalosis, hypomagnesemia and hypercalciuria) [3].

Reaching to diagnosis was difficult, as it was not thought but was due to persistent hypokalaemia in patient, further analysis was done, then Gitelman Syndrome was diagnosed.

Keywords:Gitelman Syndrome, hypokalaemia, hypocalciuria,hypomagnesemia