Gitelman syndrome combined with complete growth hormone deficiency
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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.
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.
참고문헌 (19)
- Gitelman HJ, "A new familial disorder characterized by hypokalemia and hypomagnesemia", Trans Assoc Am Physicians, 79, pp.221~235 (1966)
- Abuladze N, "Peripheral blood mononuclear cells express mutated NCCT mRNA in Gitelman's syndrome: evidence for abnormal thiazide-sensitive NaCl cotransport", Am Soc Nephrol, 9, pp.819~826 (1998)
- Fremont OT, "Understanding Bartter syndrome and Gitelman syndrome", World J Pediatr, 8, pp.25~30 (2012)
- Vargas-Poussou R, "Spectrum of mutations in Gitelman syndrome", J Am Soc Nephrol, 22, pp.693~703 (2011)
- Graziani G, "Gitelman syndrome: pathophysiological and clinical aspects", QJM, 103, pp.741~748 (2010)
- Sinha A, "Gitelman syndrome: novel mutation and long-term followup", Clin Exp Nephrol, 16, pp.306~309 (2012)
- Flyvbjerg A, "Evidence that potassium deficiency induces growth retardation through reduced circulating levels of growth hormone and insulinlike growth factor I", Metabolism, 40, pp.769~775 (1991)
- Gil-Pena H, "Alterations of growth plate and abnormal insulin-like growth factor I metabolism in growth-retarded hypokalemic rats: effect of growth hormone treatment", Am J Physiol Renal Physiol, 297, pp.F639~F645 (2009)
- Ruvalcaba RH, "Case report: familial growth hormone deficiency associated with Bartter's syndrome", Am J Med Sci, 303, pp.411~414 (1992)
- Boer LA, "Bartter's syndrome with impairment of growth hormone secretion", Lancet, 340, pp.860~ (1992)
- Akil I, "A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis", Clin Exp Nephrol, 14, pp.278~282 (2010)
- Buyukcelik M, "Bartter syndrome and growth hormone deficiency: three cases", Pediatr Nephrol, 27, pp.2145~2148 (2012)
- Ko CW, "Recombinant human growth hormone and Gitelman's syndrome", Am J Kidney Dis, 33, pp.778~781 (1999)
- Bettinelli A, "Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: a new hereditary renal tubularpituitary syndrome?", Pediatr Res, 46, pp.232~238 (1999)
- Slyper AH, "Growth, growth hormone testing and response to growth hormone treatment in Gitelman syndrome", J Pediatr Endocrinol Metab, 20, pp.257~259 (2007)
- Pointillart A, "Influence of exogenous porcine growth hormone on magnesium metabolism in intact pigs receiving normal magnesium intakes", Magnes Res, 7, pp.39~42 (1994)
- Dorup I, "Effects of IGF-I infusion on growth and muscle Na(+)-K+ pump concentration in K(+)- deficient rats", Am J Physiol, 264(5 Pt 1), pp.E810~E815 (1993)
- Hochberg Z, "Growth hormone (GH) receptor and GH-binding protein deficiency in the growth failure of potassium-depleted rats", J Endocrinol, 147, pp.253~258 (1995)
- Hsu FW, "The IGF-I axis in kidney and skeletal muscle of potassium deficient rats", Kidney Int, 52, pp.363~370 (1997)