宁夏回族迟发性皮肤卟啉病1家系调查研究

发布时间：2018-04-30 21:14

本文选题：家系 + 迟发性　；参考：《宁夏医科大学》2011年硕士论文

【摘要】：目的针对宁夏地区首发回族迟发性皮肤卟啉病(porphyria cutanea tarda, PCT)家系进行调查研究。迟发性皮肤卟啉病是卟啉症中最常见的一型,发病率1.4～3.5∶100 000。临床特点为慢性皮肤损害,起病缓慢,症状轻重不一。本研究的目的是以明确宁夏地区首个回族迟发性皮肤卟啉病家系的诊断及遗传特点。方法对这一家系所有成员进行临床病例资料收集,结合皮肤专科情况、皮损组织病理、PAS染色及Wood灯,明确诊断,绘制家系图。结果三代13人均为回族,对本家系2个疑似病例(均为女性)及6个无临床症状家庭成员进行了尿卟啉筛选实验,2个疑似病例尿卟啉实验(Wood灯下呈亮粉色荧光)均为阳性。再结合先证者皮肤专科情况、皮损组织病理、PAS染色阳性,临床确诊迟发性皮肤卟啉病。结论迟发性皮肤卟啉病是一种较为少见的代谢性疾病,一般将PCT分作散发性和家族性两型。而目前国内家系报道1例(河北医科大学代谢内分泌研究所,彭学军,毛季萍等;当代医师杂志1996年)。宁夏回族迟发型卟啉病一家系为我区首例家族型迟发型卟啉病报道,发病者4人,均为女性,回族。
[Abstract]:Objective to investigate the pedigree of Porphyria cutanea tarda in the first episode of Hui nationality in Ningxia. Tardive dermatoporphyria is the most common type of porphyria, with an incidence of 1.4 to 3.5: 100, 000. Clinical features are chronic skin damage, slow onset and different severity of symptoms. The purpose of this study was to identify the diagnosis and genetic characteristics of the first Hui delayed dermatoporphyrin family in Ningxia. Methods the clinical data of all the members of this family were collected, combined with the condition of skin specialty, the pathological pas staining and Wood lamp of the lesions, the diagnosis was made and the pedigree map was drawn. Results 13 people of three generations were all of Hui nationality. Two suspected cases (all female) and six family members without clinical symptoms were tested by urine porphyrin screening, and the two suspected cases were all positive under the bright pink fluorescence under the lamp of urine porphyrin. Combined with the skin specialty of the proband, the lesions were positive for pas staining and were clinically diagnosed as tardy dermatoporphyria. Conclusion delayed dermatoporphyria is a rare metabolic disease. PCT is classified as sporadic and familial. At present, one case was reported in Chinese family (Institute of Metabolism and Endocrinology, Hebei Medical University, Peng Xuejun, Mao Jiping, et al.). A family of late type porphyria in Ningxia Hui nationality was reported as the first family type of porphyria in our district. The disease occurred in 4 cases, all of them were female and Hui nationality.
【学位授予单位】：宁夏医科大学
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：R758.5

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