title: Gitelman syndrome: novel mutation and long-term follow-up.
abstract: We report a case of Gitelman syndrome presenting with fatigue, paresthesias, weakness of limbs and neck muscles since 2.5 years of age. Investigations showed hypokalemia and hypomagnesemia with urinary magnesium wasting. Genetic analysis revealed the presence of a novel homozygous mutation in the SLC12A3 gene (c.2879_2883+9ins14bp, p.Val 960 Glu fsx12). Management with potassium and magnesium supplements and spironolactone resulted in a significant improvement in symptoms. Over a follow-up of 11 years, the patient showed satisfactory growth and physical development.
authors.affiliation: Division of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India. aditisinha4@rediffmail.com
authors.forename: Aditi
authors.initials: A
authors.lastname: Sinha
authors.forename: Petr
authors.initials: P
authors.lastname: Lněnička
authors.forename: Biswanath
authors.initials: B
authors.lastname: Basu
authors.forename: Ashima
authors.initials: A
authors.lastname: Gulati
authors.forename: Pankaj
authors.initials: P
authors.lastname: Hari
authors.forename: Arvind
authors.initials: A
authors.lastname: Bagga
mesh_terms: D002648:Child; D004232:Diuretics / Q000627:therapeutic use; D005260:Female; D005500:Follow-Up Studies; D053579:Gitelman Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007008:Hypokalemia / Q000235:genetics*; D008274:Magnesium / Q000627:therapeutic use; D009154:Mutation; D011188:Potassium / Q000627:therapeutic use; D011955:Receptors, Drug / Q000235:genetics*; D064486:Solute Carrier Family 12, Member 3; D013148:Spironolactone / Q000627:therapeutic use; D027981:Symporters / Q000235:genetics*
chemical_list: D004232:Diuretics; D011955:Receptors, Drug; C578874:SLC12A3 protein, human; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters; D013148:Spironolactone; D008274:Magnesium; D011188:Potassium