A Case Report on Recurrent Episodes of Dyselectrolytemia Diagnosed as Gitleman Syndrome
Priyadharshini V., Deepika Ganesh, Rajmahizhan T.
International Journal of Medical and Pharmaceutical Case Reports · pp. 54–59 · Published 10 Oct 2023
10.9734/ijmpcr/2023/v16i4350Abstract
Background: Gitleman syndrome (GS) is also known as familial hypokalaemia-hypomagnesemia, which is a rare genetic disorder. It is an autosomal recessive disease that is characterized by hypokalaemia, hypomagnesemia, metabolic alkalosis, hypocalciuric hypercalcemia and hyperaldosteronism. Case Report: 70-year-old female patient who was diagnosed with Gitelman syndrome with the symptoms of loss of appetite, muscle weakness, and abdominal pain. Electrolyte levels were low. After inconclusive evidence from laboratory investigation, genetic testing was performed. The detection of the SLC12A3 gene mutation encoding thiazide diuretic sensitive sodium chloride cotransporter located in DCT of kidney, confirmed the diagnosis of GS with c.1331delA variant. No pathological variant of CLCNKB for Bartter syndrome has been found. The patient was treated with parenteral normal saline, potassium chloride, Arachitol, spironolactone, metoclopramide, and MgD3 (magnesium glycinate and vitamin D3), the symptoms was significantly relieved. After discharge the intravenous medicines were shifted to oral and followed up with serum electrolyte levels in our institute.
References (8)
- 1 Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter [DOI]
- 2 Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference [DOI]
- 3 FUNCTIONAL HYPOPARATHYROIDISM AND PARATHYROID HORMONE END‐ORGAN RESISTANCE IN HUMAN MAGNESIUM DEFICIENCY [DOI]
- 4 Gitelman’s syndrome: towards genotype-phenotype correlations? [DOI]
- 5 Autosomal Dominant Hypoparathyroidism with Severe Hypomagnesemia and Hypocalcemia, Successfully Treated with Recombinant PTH and Continuous Subcutaneous Magnesium Infusion [DOI]
- 6 A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia [DOI]
- 7 A case of Gitelman syndrome with severe hyponatraemia and hypophosphataemia [DOI]
- 8 A case report of Gitelman syndrome in children [DOI]
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