Heterozygous missense mutation of the fibrinogen gene associated with cryptogenic liver disease in a 15-months-old Canadian caucasian child.

IF 1.1 4区 医学 Q4 MICROSCOPY
Ultrastructural Pathology Pub Date : 2025-03-04 Epub Date: 2024-12-31 DOI:10.1080/01913123.2024.2447853
Mohit Kehar, Robert J Klaassen, Consolato M Sergi
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引用次数: 0

Abstract

Hepatic fibrinogen storage disease is an uncommon autosomal dominant hereditary illness marked by hypofibrinogenemia and the accumulation of variant fibrinogen in the hepatic endoplasmic reticulum. We present an asymptomatic 15-month-old male with elevated liver enzymes. Test results indicate hypofibrinogenemia. The liver biopsy revealed circular eosinophilic inclusion bodies within the hepatocyte cytoplasm. After diastase pretreatment, the inclusion bodies did not stain using the periodic acid - Schiff procedure. Ultrastructural examination revealed the characteristic fibrinogen storage curvilinear inclusions. Sequence analysis using the Blueprint Genetics (BpG) FLEX Bleeding Disorder/Coagulopathy Panel identified a heterozygous missense variant FGG c.1075 G>C, p. (Gly359Arg). Thus, the patient was diagnosed with hepatic fibrinogen storage disease. Our findings suggest that in patients with asymptomatic elevated liver enzymes presenting with unanticipated hypofibrinogenemia, hepatic fibrinogen storage disorder must be included in the differential diagnosis. Furthermore, our results underscore the significance of molecular diagnosis in patients diagnosed with cryptogenic liver disease.

一名15个月大的加拿大白种人儿童与隐源性肝病相关的纤维蛋白原基因杂合错义突变
肝纤维蛋白原储存病是一种罕见的常染色体显性遗传性疾病,其特征是低纤维蛋白原血症和变异型纤维蛋白原在肝内质网的积累。我们提出一个无症状的15个月大的男性肝酶升高。试验结果提示低纤维蛋白原血症。肝活检显示肝细胞质内有环状嗜酸性包涵体。经淀粉酶预处理后,包涵体不能用周期性酸-希夫染色法染色。超微结构检查显示特征性纤维蛋白原储存曲线包涵体。使用Blueprint Genetics (BpG) FLEX出血性疾病/凝血病小组进行序列分析,鉴定出杂合错义变体FGG C .1075 G>C, p. (Gly359Arg)。因此,患者被诊断为肝纤维蛋白原储存病。我们的研究结果表明,在无症状的肝酶升高患者出现意外的低纤维蛋白原血症时,肝纤维蛋白原储存障碍必须包括在鉴别诊断中。此外,我们的结果强调了分子诊断在诊断为隐源性肝病患者中的意义。
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来源期刊
Ultrastructural Pathology
Ultrastructural Pathology 医学-病理学
CiteScore
2.00
自引率
10.00%
发文量
40
审稿时长
6-12 weeks
期刊介绍: Ultrastructural Pathology is the official journal of the Society for Ultrastructural Pathology. Published bimonthly, we are the only journal to be devoted entirely to diagnostic ultrastructural pathology. Ultrastructural Pathology is the ideal journal to publish high-quality research on the following topics: Advances in the uses of electron microscopic and immunohistochemical techniques Correlations of ultrastructural data with light microscopy, histochemistry, immunohistochemistry, biochemistry, cell and tissue culturing, and electron probe analysis Important new, investigative, clinical, and diagnostic EM methods.
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