Khan Imteyaz, Chow Matthew, Chandra Shakuntala, Hiatt Mark
Neonatology, Saint Peter's University Hospital, New Brunswick, USA.
Pediatrics, Saint Peter's University Hospital, New Brunswick, USA.
Cureus. 2023 Mar 21;15(3):e36459. doi: 10.7759/cureus.36459. eCollection 2023 Mar.
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.
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)。