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首页> 外文期刊>Liver international : >Fibrinogen storage disease and cirrhosis associated with hypobetalipoproteinemia owing to fibrinogen Aguadilla in a Turkish child
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Fibrinogen storage disease and cirrhosis associated with hypobetalipoproteinemia owing to fibrinogen Aguadilla in a Turkish child

机译：土耳其儿童的血纤维蛋白原Aguadilla引起的血纤维蛋白原贮积病和肝硬化与低脂蛋白血症相关

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Background and Aims: Fibrinogen gene mutations can rarely result in hepatic fibrinogen storage disease (HFSD). Herein, we report on the first Turkish family carrying the mutation p.Arg375Trp (fibrinogen Aguadilla) in the c-chain of the fibrinogen (FGG) gene. Methods: Clinical, laboratory and histopathological findings of the patient were documented. Molecular study of fibrinogen gene was performed in the patient and her family members. Results: The proband was 5 years old girl presenting with advanced liver fibrosis of unknown origin. The child had very low plasma levels of fibrinogen and hypobetalipoproteinemia. Immunomorphologic and electron microscopic studies showed selective and exclusive accumulation of fibrinogen within the endoplasmic reticulum in liver biopsy of the patient. Patient, mother, two sisters and one brother carried p. Arg375Trp mutation (fibrinogen Aguadilla) in FGG gene. The patient was treated with ursodeoxycholic acid and carbamazepine. After 3 months, carbamazepine was suspended upon family decision and unresponsiveness of carbamazepine. Conclusions: HFSD is characterized by hypofibrinogenemia and accumulation of abnormal fibrinogen within hepatocytes. In addition, hypofibrinogenemia is associated with hypobetalipoproteinemia in Aguadilla mutation.
机译：背景与目的：纤维蛋白原基因突变很少会导致肝纤维蛋白原贮积病（HFSD）。在此，我们报道了第一个在纤维蛋白原（FGG）基因的c链上携带p.Arg375Trp（纤维蛋白原Aguadilla）突变的土耳其家庭。方法：记录患者的临床，实验室和组织病理学发现。在患者及其家属中进行了纤维蛋白原基因的分子研究。结果：先证者为5岁女孩，患有未知来源的晚期肝纤维化。这个孩子的血浆纤维蛋白原和低脂蛋白血症水平很低。免疫形态学和电子显微镜研究显示，在患者肝活检中，纤维蛋白原在内质网内选择性和排他性积聚。病人，母亲，两个姐妹和一个兄弟背着p。 FGG基因中的Arg375Trp突变（纤维蛋白原Aguadilla）。患者接受熊去氧胆酸和卡马西平治疗。 3个月后，卡马西平因家庭决定和卡马西平无反应而中止。结论：HFSD的特征是低血纤蛋白血症和肝细胞内异常血纤蛋白原的积累。此外，血纤维蛋白原血症与Aguadilla突变中的低β脂蛋白血症相关。

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