Gitelman syndrome: novel mutation and long-term follow-up
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Updated: May 28, 2026

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
Published on: September 4, 2011
Aditi Sinha1, Petr Lněnička, Biswanath Basu
1Division of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India. aditisinha4@rediffmail.com
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.
