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수술 후 부갑상선기능저하증 환자에서 발생한 우유-알칼리 증후군
김철수,김부경,최영식,박요한,권수경,Cheol Su Kim,Bukyung Kim,Young Sik Choi,Yo-Han Park,Su Kyoung Kwon 대한갑상선-내분비외과학회 2014 The Koreran journal of Endocrine Surgery Vol.14 No.2
Calcium plays a critical role in neuromuscular excitement and other cellular functions. Therefore, extracellular calcium concentration is maintained within a very narrow range through interaction of calcium regulating hormones such as parathyroid hormone, cal-citonin, and vitamin D. Thus, symptomatic severe hypercalcemia has rarely occurred in a clinical situation, particularly in patients with hypoparathyroidism. In general, a large amount of calcium and vitamin D should be supplied in order to avoid hypocalcemia in hypoparathyroid patients. A 63-year old female patient was admitted suffering from nausea, vomiting, and weakness for two weeks. She had a history of total thyroidectomy and subsequent permanent hypoparathyroidism and long-term calcium and vitamin D supplementation. For over 10 years she had not changed her daily amount of calcium and vitamin D intake. Her initial serum calcium was 17.5 mg/dL, creatinine was 2.57 mg/dL, and total CO2 was 33.1 meq/L. After thorough examination, we concluded that milk-alkali syndrome was the cause of severe hypercalcemia. Therefore, special pay attention should be paid to aged patients on calcium supplementation in situations of increased risk of dehydration and renal insufficiency, even though the usual amount of calcium intake was unchanged for several years.
증례 : Von Hippel-Lindau 유전자 배선 돌연변이와 동반된 가족성 양측성 갈색 세포종 1예
양재홍 ( Jae Hong Yang ),최영식 ( Yonung Sik Choi ),박요한 ( Yo Han Park ),오경승 ( Kyung Seung Oh ),천봉권 ( Bong Kwon Chun ),이상준 ( Sang Jun Lee ),김일진 ( Il Jin Kim ) 대한내과학회 2005 대한내과학회지 Vol.69 No.-
Von Hippel-Lindau (VHL)병은 VHL 유전자의 배선 돌연변이(germline mutation)의 결과로 발생하며, 상염색체 우성으로 유전하는 질환으로 소뇌, 척수, 뇌간 및 망막의 혈관모세포종과 신세포암, 갈색세포종 및 췌도종양 등의 여러 장기에 양성 및 악성 종양을 초래 하는 질환이다. 저자들은 양측성 갈색세포종을 가진 딸과 양측성 갈색세포종과 시력장애 및 췌장종양을 가진 환자에서 시행한 유전자 검사상 VHL exon2, codon 121에서 GAT (Asp)가 AAT (Asn)으로 배선돌연변이를 경험하였기에 문헌고찰과 함께 보고하는 바이다. Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome characterized by multiple benign and malignant tumors of the central nervous system (CNS), retina, kidney, pancreas and adrenal glands. VHL disease is associated with a germline mutation of the VHL tumor suppressor gene on the short arm of chromosome 3. VHL disease has been divided in four subtypes, based on development of different tumors. VHL diseases without pheochromocytoma are classified as type 1, and those with pheochromocytoma type 2. VHL disease type 2 is divided into 2A based on the presence of renal cancer or 2B by the absence of renal cancer, and 2C has pheochromocytoma only. Recently we experienced a family with VHL type 2A and VHL type 2C who carry a novel type GAT (Asp) to AAT (Asn) missense germline mutation in codon 121 of exon 2 of VHL gene. The authors report this case with literature review. (Korean J Med 69:S873-S878, 2005)