title: Gitelman syndrome combined with complete growth hormone deficiency.
abstract: Gitelman syndrome is a rare autosomal recessive hereditary salt-losing tubulopathy, that manifests as hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is caused by mutations in the solute carrier family 12(sodium/chloride transporters), member 3 (SLC12A3) gene encoding the thiazide-sensitive sodium chloride cotransporter channel (NCCT) in the distal convoluted tubule of the kidney. It is associated with muscle weakness, cramps, tetany, vomiting, diarrhea, abdominal pain, and growth retardation. The incidence of growth retardation, the exact cause of which is unknown, is lower than that of Bartter syndrome. Herein, we discuss the case of an overweight 12.9-year-old girl of short stature presenting with hypokalemic metabolic alkalosis. The patient, on the basis of detection of a heterozygous mutation in the SLC12A3 gene and poor growth hormone (GH) responses in two provocative tests, was diagnosed with Gitelman syndrome combined with complete GH deficiency. GH treatment accompanied by magnesium oxide and potassium replacement was associated with a good clinical response.
authors.affiliation: Department of Pediatrics, Kangwon National University School of Medicine, Chuncheon, Korea.
authors.forename: Se Ra
authors.initials: SR
authors.lastname: Min
authors.affiliation: Department of Pediatrics, Kangwon National University School of Medicine, Chuncheon, Korea.
authors.forename: Hyun Seok
authors.initials: HS
authors.lastname: Cho
authors.affiliation: Department of Pediatrics, Kangwon National University School of Medicine, Chuncheon, Korea.
authors.forename: Jeana
authors.initials: J
authors.lastname: Hong
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea. ; Research Coordination Center for Rare Diseases, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea. ; Kidney Research Institute, Medical Research Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
authors.affiliation: Department of Pediatrics, Kangwon National University School of Medicine, Chuncheon, Korea.
authors.forename: Sung Yeon
authors.initials: SY
authors.lastname: Ahn
keywords: Gitelman syndrome; Growth hormone; Sodium Chloride Symporters