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김지현,이선주,김애숙,조성민,이동석,김두권,최성민,기창석,김종원,Kim Ji Hyun,Lee Sun Ju,Kim Ae Suk,Cho Sung Min,Lee Dong Seok,Kim Doo Kwun,Choi Sung Min,Ki Chang Seok,Kim Jong Won 대한소아신장학회 2005 Childhood kidney diseases Vol.9 No.2
저자들은 불규칙한 발열은 주소로 내원한 5개월 된 어린 영아에서 유전자 검사를 통하여 선천성 신성 요붕증을 조기 확진하였으며 thiazide 치료에 반응을 보였기에 문헌고찰과 함께 보고하는 바이다. Nephrogenic diabetes insipidus(NBI) is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone; arginine vasopressin(AVP). Polyuria with hyposthenuria, and polydipsia are the cardinal clinical manifestations of the disease. Ninety percent of congenital nephrogenic diabetes insipidus patients are males with the X-linked recessive form of the disease; the mutation is in the AVP receptor 2 gene(AVPR2), which is located in chromosomal region Xq28. We report a case of NDI who suffered from unexplained fever and failure to thrive, which has been recognized since about ,3 months after birth. His genomic DNA analysis identified a novel AVPR2 gene mutation as W200C. (J Korean Soc Pediatr Nephrol 2005;9:269-274)
증례 : BMPR2 유전자 돌연변이에 의한 특발성 폐동맥고혈압 1예
김성민 ( Sung Min Kim ),구은희 ( Eun Hee Koo ),박선미 ( Sun Mi Park ),박지원 ( Ji Won Park ),기창석 ( Chang Suk Ki ),이영재 ( Young Jae Lee ),장성아 ( Sung A Chang ) 대한내과학회 2012 대한내과학회지 Vol.83 No.2
본 연구는 "The prevalence of BMPR2 gene mutations and the effects of inhaled iloprost on hemodynamic response assessed by cardiopulmonary exercise test in Korean patients with pulmonary arterial hypertension (PILGRIM, ClinicalTrials.gov number, NCT-01054105)의 연구비 지원을 받았음. Here, we describe the case of a 43-year-old male who was diagnosed with idiopathic pulmonary arterial hypertension and a mutation in the gene encoding bone morphogenetic protein receptor type 2 (BMPR2). The subject presented with hemoptysis and dyspnea on exertion and was diagnosed with pulmonary arterial hypertension. Genetic analysis revealed a novel deletion (c.1042_1047delGTTATT) in exon8 of BMPR2. To the best of our knowledge, this is the first reported case of a BMPR2 mutation in a Korean patient with pulmonary arterial hypertension.
이헌주 ( Heon Ju Lee ),은종렬 ( Jong Ryul Eun ),장병익 ( Byung Ik Jang ),이정훈 ( Jung Hoon Lee ),이형우 ( Hyoung Woo Lee ),최준혁 ( Joon Hyuk Choi ),기창석 ( Chang Suk Ki ) 대한내과학회 2006 대한내과학회지 Vol.71 No.1
Glycogen storage disease type Ia is caused by a deficiency of glucose-6-phosphatase (G6PC), which leads to glycogen accumulation in many organs including liver. We could diagnose a case of glycogen storage disease type Ia with molecular genetic analysis. A 17-year-old man visited Yeungnam university hospital because of abdominal discomfort. Clinical features were characterized by short stature, hepatosplenomegaly, accompanying hypoglycemia, hypercholesterolemia, hyperuricemia. Liver needle biopsy disclosed compatible findings of glycogen storage disease. Molecular genetic analysis of the G6PC gene was performed by direct sequencing method. We identified two mutations within the exon 5 of the G6PC gene, 727G>T and 743G>A. We report this rare case with a review of the literature.(Korean J Med 71:91-96, 2006)