MEDLINE/PubMed Journal Browser Search

Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

Title: [Pedigree Analysis and Diagnosis of Congenital Dysfibrinogenemia: A Case Report].
Author: Luo J, Duan SR, Wang H.
Journal: Sichuan Da Xue Xue Bao Yi Xue Ban; 2022 Jan; 53(1):171-174. PubMed ID: 35048620.
Abstract:
OBJECTIVE: To improve the understanding and diagnosis and treatment of congenital dysfibrinogenemia (CD) through analyzing the clinical data of a pediatric patient and his pedigree. METHODS: The clinical manifestations, laboratory findings and treatment of a case of CD diagnosed at West China Second University Hospital, Sichuan University and those of its pedigree members were analyzed, and genetic tracing and follow-up were conducted on the patient and its pedigree. RESULTS: The child has no clinical manifestations at the time of admission. Coagulation function examination showed normal prothrombin time (PT), normal activated partial thrombin time (APTT), significantly prolonged thrombin time (TT), fibrinogen activity (Fg: C<0.5 g/L) measured with the Clauss method, and fibrinogen antigen (Fg: Ag) measured at 2.8 g/L with PT algorithm. Gene sequencing results showed that heterozygous missense mutation c.901C>T (p.Arg301Cys) in exon 8 of FGG gene. Combined with the family history, the child was diagnosed with CD. During the follow-up of 4 ⁺ months, the patient did not present bleeding, abnormal coagulation or thrombosis, and the coagulation function did not show significant changes compared with the findings obtained on admission. CONCLUSION: The diagnosis of CD is confirmed mainly based on genetic testing and the treatment is characterized by the principle of precise individualized treatment. No special treatment is needed for patients presenting no clinical manifestations. However, it is important to provide thorough prenatal diagnosis and follow-up services for female patients planning for pregnancy so as to prevent miscarriage and complications caused by postpartum coagulation dysfunction. 目的: 提高对遗传性异常纤维蛋白原血症（congenital dysfibrinogenemia, CD）的认识及诊疗水平。方法: 分析1例在四川大学华西第二医院确诊的CD患儿及其家系的临床表现、实验室检查和治疗，同时对患儿及其家系成员进行遗传学追踪并给予随访。结果: 患儿入院时无临床表现，凝血功能显示凝血酶原时间（PT）、活化的部分凝血活酶时间（APTT）正常，凝血酶时间（TT）明显延长，纤维蛋白原活性（Fg:C）（Clauss法）<0.5 g/L，纤维蛋白原抗原（Fg:Ag）（PT演算法）2.8 g/L，基因测序结果为FGG基因第8号外显子杂合性错义变异c.901C>T(p.Arg301Cys)，结合其家系的病史，诊断CD明确。随访4⁺月，患儿无出血、凝血异常及血栓形成表现，复查凝血功能与入院时无明显变化。结论: CD主要依据基因检测进行确诊，其治疗特点为精准个体化原则，对于没有临床表现的患者无需特殊治疗，但对备孕的女性患者充分做好产前诊断及随访十分重要，避免流产及产后凝血功能异常所致的并发症出现。

[Abstract] [Full Text] [Related] [New Search]