Introduction: Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is usually detected during adolescence or adulthood, either fortuitously or in association with mild or nonspecific symptoms or both. The disease is characterized by high phenotypic variability and a significant reduction in the quality of life, and it may be associated with severe manifestations. With a prevalence at ∼1 to 10 per 40,000,(potentially higher in Asia) GS is arguably the most frequent inherited tubulopathy. To date, >350 mutations scattered throughout SLC12A3 have been identified in GS patients Material And Methods: A 22 year old female patient presented for the first time in a tertiary health care center with decreased capacity to do routine work since childhood and episodes of periodic all 4 limb paresis, painful muscle spasms, primary infertility, pallor, polyuria and nocturia. Magnesium – 1.38 mg/dl, Potassium – 1.4 mEq/l, ABGA ph – 7.65, HCO3 – 55 Meq/l, potassium-to-creatinine ratio (K/Cr) – 3.9 mEq/ml, urine K–22 mEq/ml, Urine calcium (spot) -4.32mg/dl, Urine calcium 24 hrs – 32mg/24 hrs Diagnosis: Based on the clinical examination showing weakness of all 4 limbs hyporeflexia, decreased depth of respiration and the lab values of potassium less than 2mEq/ml suggesting severe hypokalaemia, a diagnosis of transient hypokalaemia paralysis was made. There was also drastic improvement in symptoms after potassium supplementation Conclusion: Because GS originates from the distal convoluted tubule, the salt and water losses in GS patients are less pronounced than in antenatal Barter syndrome because urinary concentrating ability is largely intact. GS patients are often asymptomatic or present with symptoms such as muscle weakness, fatigue, salt craving, thirst, nocturia, constipation, cramps, carpopedal spasms, or tetanic episodes triggered by hypomagnesemia. Blood pressure is typically low, particularly for patients with severe hypokalemia and hypomagnesemia. Treatment consisted of salt, potassium and magnesium supplementation.
