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LDL 수용체 검사로 확인된 가족성 고 콜레스테롤혈증 환자 1 예
이승재(Seung Jae Lee),곽진구(Jin Koo Kwark),고근아(Kuen Ah Koh),최웅환(Woong Hwan Choi),박원근(Won Kun Park),김선우(Sun Woo Kim) 대한내과학회 1989 대한내과학회지 Vol.37 No.4
N/A Familial hypercholesterolemia, a common autosomal dominant disorder affecting approximately 1 in every 500 persons, is caused by a mutaton in the gene for the LDL receptor. A 69-year-old woman was admitted to the hospital because of chest tightness and easy fatigue. Cutaneous xanthoma was presented on the right elbow and both ankles, Serum levels of total cholesterol and triglyceride were 668 mg9p and 986 mg9 respectively. Lipoprotein electrophoresis revealed type IV pattern. Her first daughter also showed hypercholesterolemia. After 6 months of glucose control, the serum triglyceride level was markedly decreased from 980 mg9. to 180㎎% Repeated lipoprotein electrophoresis revealed specific elevation of LDL-cholesterol fraction (Type lla pattern). LDL receptor binding assay in cultured fibroblasts showed markedly decreased activity of the LDL receptor.