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先天性无纤维蛋白原血症病例报告及包皮环切术后出血管理的文献综述

A Case Report of Congenital Afibrinogenemia and Literature Review of Management of Post-circumcision Bleeding.

作者信息

Khan Imteyaz, Chow Matthew, Chandra Shakuntala, Hiatt Mark

机构信息

Neonatology, Saint Peter's University Hospital, New Brunswick, USA.

Pediatrics, Saint Peter's University Hospital, New Brunswick, USA.

出版信息

Cureus. 2023 Mar 21;15(3):e36459. doi: 10.7759/cureus.36459. eCollection 2023 Mar.

Abstract

We present a case of bleeding from circumcision in a full-term newborn male resulting from a rare coagulopathy, congenital afibrinogenemia, and a review of the literature regarding the management of bleeding after circumcision. Bleeding was managed with silver nitrate, suturing, thrombin powder, Arista AH (absorbable hemostatic particles; Becton, Dickinson and Company, Franklin Lakes, USA), FFP (fresh frozen plasma), and cryoprecipitate. The Fibrinogen level was less than 30 mg/dl (ref 150-430 mg/dl). The diagnosis of congenital afibrinogenemia was confirmed by a gene test. The baby was found to have a heterozygous pathogenic variant (c.510+1G>T) and a heterozygous likely pathogenic variant (c.1037del) in the  gene.

摘要

我们报告了一例足月新生儿男性因罕见的凝血病——先天性无纤维蛋白原血症导致包皮环切术后出血的病例,并对包皮环切术后出血管理的文献进行了综述。出血通过硝酸银、缝合、凝血酶粉、Arista AH(可吸收止血颗粒;美国新泽西州富兰克林湖的百特公司)、新鲜冰冻血浆(FFP)和冷沉淀进行处理。纤维蛋白原水平低于30mg/dl(参考值为150 - 430mg/dl)。通过基因检测确诊为先天性无纤维蛋白原血症。发现该婴儿在该基因中有一个杂合致病性变异(c.510 + 1G>T)和一个杂合可能致病性变异(c.1037del)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb37/10029106/63ec73b8839a/cureus-0015-00000036459-i01.jpg

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