家族性结肠息肉病家系调查和内镜随访

家族性结肠息肉病是一种少见的常染色体显性遗传疾病,男女均可发病,并向后代遗传,因其息肉癌变率高,临床倍受重视.在基因调控尚未解决之前,其治疗仍是一大难题,手术切除结肠不仅给患者生活带来不便,且残留结肠、储袋、人造肛门口仍有息肉发生及癌变可能.肠镜下摘除息肉难以彻底,能否减少和防止癌变尚难定论.我们自1987年开始对2个家族性结肠息肉病家族进行了家系调查和长期内镜下治疗及随访.现将结果报告如下.     

Fatty liver in H63D homozygotes with hyperferritinemia

To study the clinical correlates of the H63D mu-tation we have analysed the phenotype of H63D homo-zygotes identified through mutation analysis in a referral laboratory. A total of 366 blood samples referred for HFE analysis were screened for C282Y and H63D mutations. Four H63D homozygotes were identified. All had raised serum ferritin but normal transferrin saturation. They were negative for hepatitis B and C and only one patient consumed excess alcohol. In all 4 cases ultrasonography revealed fatty liver. In two patients a liver biopsy was done and showed mild siderosis with an unusual distribution and macrovesicular steatosis. These data confirm the association between fatty liver, hyperferritinaemia and increased hepatic iron, but do not clarify whether siderosis was related to steatosis rather than homozygosity for the H63D mutation. Patients with fatty liver may complicate the interpretation of data in population studies of the expression of H63D homozygosity.     

家族性高胆固醇血症纯合表型致病基因突变分析1例

家族性高胆固醇血症（FH）是由低密度脂蛋白受体（LDLR）基因缺陷引起的一种常染色体显性遗传疾病。LDLR基因发生突变,影响LDLR与低密度脂蛋白胆固醇（LDLC）的结合,使LDL～C不能正常代谢,造成血浆胆固醇浓度异常升高并在组织内过多积聚。纯合子发病率为百万分之一,杂合子发病率为五百分之一。纯合子FH因LDLR基因严重缺陷,导致血浆LDL-C水平较健康人高4～6倍。     

内科若干遗传性疾病调查分析

对象山半岛、海岛７５８７４名居民进行调查，查有８４种遗传及先天畸形患者１１０８人，现将其中涉及内科疾病的病例分析报告如下。１资料来源根据调研目的，设计包括一般情况、结婚生育、子女健康状况、遗传及先天畸形发病情况等项目的一户一卡调查表。用随机抽样的方法...