title: Gitelman's syndrome: Rare presentation with growth retardation.
abstract: Gitelman's syndrome is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis, hypokalemia, hypomagnesaemia, hypocalciuria, hyperreninemia and without hypertension. Gitelman's syndrome is caused by mutations of the SLC12A3 gene, which encodes the Na/Cl co-transporter (NCCT) in the distal convoluted tubule. Majority of cases manifest during adolescence or adulthood and growth retardation is not the common feature. We report a rare presentation of Gitelman's syndrome in a four-year-old boy with growth retardation.
authors.affiliation: Department of Pediatrics, Gajraraja Medical College and Kamla Raja Hospital, Gwalior, Madhya Pradesh, India.
authors.forename: A
authors.initials: A
authors.lastname: Gaur
authors.affiliation: Department of Pediatrics, Gajraraja Medical College and Kamla Raja Hospital, Gwalior, Madhya Pradesh, India.
authors.forename: R
authors.initials: R
authors.lastname: Ambey
authors.affiliation: Department of Pediatrics, Gajraraja Medical College and Kamla Raja Hospital, Gwalior, Madhya Pradesh, India.
authors.forename: B K
authors.initials: BK
authors.lastname: Gaur
keywords: Gitelman's syndrome; hypocalciuria; hypokalemia; hypomagnesaemia; metabolic alkalosis