内科理论与实践2023，Vol.18Issue(5)：328-333,6.DOI:10.16138/j.1673-6087.2023.05.004
一个家族性多囊肾伴纤维蛋白原缺陷症家系的基因诊断、临床特征及文献回顾
Genetic diagnosis and clinical analysis of congenital dysfibrinogenemia with polycystic disease:a case report and literature review
摘要
Abstract
Objective To analyze the genetic diagnosis and related clinical manifestations of a Chinese pedigree with inherited dysfibrinogenemia and polycystic kidney disease,investigate the molecular mechanism of the diseases and provide guidance for clinical treatment.Methods Ultrasonography was performed to examine polycystic kidney disease.The activity and antigen of fibrinogen in plasma were measured by Clauss and immunoturbidimetry methods,respectively.The genomic DNA was extracted from peripheral venous blood of the patient.Mutations in whole-exome genotypes were screened with the next generation sequencing technology,and were verified through PCR and Sanger sequencing technology.Domestic and foreign literature related to two diseases were searched and reviewed.Results The polycystic kidney disease was diag-nosed by conducting ultrasound examination.The plasma fibrinogen activity level in the patient was reduced,while fibrino-gen antigen level was normal.The sequencing results showed the patient had nonsense heterozygous nonsense mutation c.6586C＞T,p.Q2196X in polycystic kidney disease 1(PKD1)gene and missense heterozygous mutation c.130C＞T,p.R44C in fibrinogen beta chain(FGB)gene.The two mutations had been reported in foreign publications,but they were reported for the first time in China.Conclusions PKD1 p.Q2196X heterozygous nonsense mutation in the patients leads to polycystic kidney disease and the dysfibrinogenemia of the proband is caused by FGB p.R44C heterozygous mutation.At present,the clinical phenotype of the proband is mainly related to polycystic kidney disease.Treatment should be focused on renal function protection in polycystic kidney disease,and the patients should receive regular follow-up care.关键词
纤维蛋白原缺陷症/纤维蛋白原/多囊肾/基因突变Key words
Dysfibrinogenemia/Fibrinogen/Polycystic disease/Gene mutation分类
医药卫生引用本文复制引用
周礼扬,张春丽,丁秋兰,李娅..一个家族性多囊肾伴纤维蛋白原缺陷症家系的基因诊断、临床特征及文献回顾[J].内科理论与实践,2023,18(5):328-333,6.基金项目
国家自然科学基金项目(项目编号:82170128) （项目编号:82170128）
