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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 16 - 19 (4page)
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초록· 키워드
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A 42-year-old man came to the hospital presenting chest discomfort and general weakness. He had come to the hospital with the same symptoms 3 months ago and 12 years prior. His laboratory test showed hypokalemia, hypomagnesemia and hypocalciuria. The arterial blood gas analysis showed hypochloremic metabolic alkalosis. He had an ultrasonography guided renal biopsy, the result was normal at light microscopy and immunofluorescence microscopy. However, a special stain for Na-Cl cotransporter was weakly expressed compared with the control. The patient and his family underwent genetic sequencing about the SLC12A3 gene. He had a homozygous mutation in the 179th nucleotide of Exon 1 on the SLC12A3 gene (p.Thr60Met) and his parents and sisters were diagnosed as carrier state of Gitelman’s syndrome (GS). GS is an inherited tubular disorder which presents mild hypokalemia, hypomagnesemia and hypocalciuria. Since the symptoms and laboratory results are not severe, it can go unnoticed by physicians. Herein we present a family with GS, diagnosed by genetic sequencing.
목차
등록된 정보가 없습니다.
참고문헌 (12)
참고문헌 신청
Melander O / 2000 / Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension / Hypertension 36:389~394
Simon DB / 1996 / Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter / Nat Genet 12:24~30
Luo J / 2015 / A pedigree analysis of two homozygous mutant Gitelman syndrome cases / Endocr J 62:29~36
Gennari FJ / 1998 / Hypokalemia / N Engl J Med 339:451~458
Gitelman HJ / 1966 / A new familial disorder characterized by hypokalemia and hypomagnesemia / Trans Assoc Am Physicians 79:221~235
Simon DB / 1996 / Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter / Nat Genet 12:24~30
Luo J / 2015 / A pedigree analysis of two homozygous mutant Gitelman syndrome cases / Endocr J 62:29~36
Gennari FJ / 1998 / Hypokalemia / N Engl J Med 339:451~458
Gitelman HJ / 1966 / A new familial disorder characterized by hypokalemia and hypomagnesemia / Trans Assoc Am Physicians 79:221~235
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