FGA基因c.1368delC纯合框移突变致先天性无纤维蛋白原血症1例

先天性无纤维蛋白原血症主要表现为反复的出血包括脐部出血、青紫、鼻出血、牙龈出血、脾出血、肝出血、胃肠道或泌尿生殖道出血等。本案例患者出生后反复出血、反复低纤维蛋白原血症,经过先天性无纤维蛋白原血症基因筛查及家系验证提示患儿系FGA基因,核酸突变c.1368delC纯合框移变异,氨基酸突变p.T457Rfs*27。其父母均携带该位点杂合框移变异。后患儿出现肺出血,但无相关临床症状与体征,经过布地奈德福莫特罗粉吸入剂早晚两次雾化吸入治疗1个月后,肺部出血病灶明显吸收。 

Congenital afibrinogenemia caused by homozygous frame-shift mutation of FGA gene c.1368delC: a case report and literature review

Congenital afibrinogenemia is mainly manifested by repeated bleeding, including umbilical cord bleeding, cyanogenesis, nose bleeding, gingival bleeding, spleen bleeding, liver bleeding, gastrointestinal or urogenital tract bleeding, etc. In this case, the patient suffered from recurrent bleeding and repeated hypofibrinogenemia after birth. Genetic screening and family verification of congenital afibrinogenemia suggested that the patient had nucleic acid mutation of FGA gene, c.1368delC homozygous frame-shift mutation and amino acid mutation p.T457Rfs*27. Both parents carried the heterozygous frame-shifting mutation. The patient developed pulmonary hemorrhage, but there were no related clinical symptoms and signs. After atomizing inhalation of budesonide formoterol powder twice in the morning and evening for 1 month, the pulmonary hemorrhage lesions were obviously absorbed.