정상 마그네슘혈증의 Gitelman 증후군 1례
Gitelman Syndrome with Normal Serum Magnesium
0
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Gitelman 증후군은 저칼륨혈증, 대사성 알칼리혈증, 고레닌혈증, 고알도스테론혈증, 저마그네슘혈증, 저칼슘뇨증, 고마그네슘뇨증과 정상 혈압을 특징으로 하는 상염색체 열성 유전성 세뇨관 질환이며 SLC12A3 유전자 돌연변이로 인해 원위 곱슬 세뇨관의 NCCT의 결함을 유발하여 초래된다. 환아는 Rolandic 간질 및 마제신으로 진단받고 본원 외래에서 주기적으로 진료받던 환아로 혈액검사에서 저칼륨혈증 및 대사성 알칼리혈증이 지속되었지만 정상 마그네슘혈증이 관찰되어 유전자검사를 통해 SLC12A3 유전자 돌연변이를 확인하였고 Gitelman 증후군으로 진단한 증례를 경험하였기에 보고하는 바이다.
Abstract
Gitelman syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemic metabolic alkalosis, and it is distinguished from Batter syndrome by hypomagnesemia and hypocalciuria. This disorder is caused by mutation in SLC12A3 gene which encodes thiazide-sensitive Na+-Cl-cotransporter (NCCT) which is expressed in the apical membrane of cells, lining distal convoluted tubule. A 8-year old boy who presented with Rolandic epilepsy, and horseshoe kidney accidentally showed clinical features of metabolic alkalosis, hypokalemia, hypocalciuria without hypomagnesemia. So we identified a heterozygote mutation and an abnormal splicing in the SLC12A3 gene, encoding NCCT. The mutation was detected in the exon 15 and 22 of SLC12A3 gene.
참고문헌 (19)
- Yong KK, "Acquired Gitelman syndrome", pp.5~8 (2009), Electrolytes and blood pressure
- Lee YT, "Gitelman syndrome: report of three cases and literature review", J Med Sci, 22, pp.357~362 (2006)
- Barakat AJ, "Gitelman syndrome", J Nephrol, 14, pp.43~47 (2001)
- 전진석, "정상 마그네슘혈증과 정상 마그네슘 분획 배설률을 보인 Gitelman 증후군 1예", Kidney Research and Clinical Practice, 23(4), pp.626~629 (2004), 대한신장학회
- Batter FC, "Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome", Am J Med, 33, pp.811~828 (1962)
- Gitelman HJ, "A new familial disorder characterized by hypokalemia and hypomagnesemia", Trans Assoc Am Physicians, 78, pp.221~235 (1966)
- Koonrad M, "Mutations in the chloride channel gene, CLCNKB as a cause of classic Batter's syndrome", J Am Soc Nephrol, 11, pp.1449~1459 (2000)
- Zilikovic I, "A novel mutation in the chloride channel gene, CLCNKB, cause of Gitelman and Bartter syndrome", Kidney Int, 63, pp.24~32 (2003)
- Simon DB, "Gitelman’s variant of Batter’s syndrome; inherited hypokalaemia is caused by mutations in the thiazide -sensitive Na-Cl cotransporter", Nat Genet, 12, pp.24~30 (1996)
- Eva RM, "Gitelman’s syndrome: towards genotype-phenotype correlations?", Pediatr Nephrol, 22, pp.326~332 (2007)
- Kurtz I, "Molecular pathogenesis of Batter’s and Gitelman’s syndromes", Kidney Int, 54, pp.1396~1410 (1998)
- Farahnak A, "Hypomagnesemia", Iranian J Kidney Disease, 4(1), pp.13~19 (2010)
- Binchetti MG, "The biochemical diagnosis of Gitelman disease and the definition of “hypocalciuria”", Pediatr Nephrol, 18, pp.409~411 (2003)
- Ellison DH., "Divalent cation transport by the distal nephron: Insights from Batter’s and Gitelman’s syndromes", Am J Physiol, 279, pp.616~625 (2000)
- Dai LJ, "Magnesium transport in the renal distal convoluted tubule", Physio Rev, 81, pp.51~84 (2001)
- Yoo TH, "Identification of novel mutations in Na-Cl cotransporter gene in a Korean patient with atypical Gitelman’s syndrome", Am J Kidney Dis, 42, pp.11~16 (2003)
- Bettinelli A, "Aldosterone influences serum magnesium in Gitelman syndrome", Nephron, 86, pp.236~ (2000)
- Nine AVM, "Inherited forms of renal hypomagnesemia: an update", Pediatr Nephrol, 24, pp.697~705 (2009)
- Ring T, "Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome", Pediatr Nephrol, 17, pp.612~616 (2002)