Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of Medicine, Inonu University, Malatya, Turkey.
Department of Pediatric Nephrology, Faculty of Medicine, Inonu University, Malatya, Turkey.
J Trop Pediatr. 2021 Jul 2;67(3). doi: 10.1093/tropej/fmab019.
Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by abdominal and chest pain and recurrent fever due to inflammation in the serosal membranes such as peritoneum, pleura and synovia. In FMF, recurrent inflammatory cytokine production may lead to cirrhosis. The aim of this study was to determine the prevalence of FMF in children with cryptogenic cirrhosis and it was found to be high, to add FMF among the etiological causes of cirrhosis.
This prospective cohort study conducted at the Hospital of İnönü University, Malatya, Turkey. In this study, 44 patients diagnosed with cryptogenic cirrhosis by biopsy, in the Pediatric Gastroenterology, Hepatology and Nutrition Clinic, were included, after the other reasons that may cause chronic liver disease were excluded. MEVF gene analysis was performed for all patients with cryptogenic cirrhosis.
FMF genetic mutation was detected in 9 (20%) of 44 patients. M694V mutation was detected in one patient (2.27%) and E148Q homozygous mutation was detected in one patient (2.27%). Various other heterozygous mutations were detected in seven other patients. Homozygous and heterozygous R202Q mutations were detected in one patient.
We suggest that FMF plays a role in the etiologic differential diagnosis of cryptogenic cirrhosis.
家族性地中海热（FMF）是一种自身炎症性疾病，其特征为腹部和胸部疼痛以及由于腹膜、胸膜和滑膜等浆膜炎症引起的反复发热。在 FMF 中，反复的炎症细胞因子产生可能导致肝硬化。本研究旨在确定隐匿性肝硬化患儿中 FMF 的患病率较高，并将其添加到肝硬化的病因中。
这是一项在土耳其因纽努大学医院进行的前瞻性队列研究。在这项研究中，儿科胃肠病学、肝病和营养诊所通过活检诊断为隐匿性肝硬化的 44 例患者，排除了可能导致慢性肝病的其他原因。对所有隐匿性肝硬化患者进行 MEVF 基因分析。
在 44 例患者中，有 9 例（20%）检测到 FMF 基因突变。1 例患者（2.27%）检测到 M694V 突变，1 例患者（2.27%）检测到 E148Q 纯合突变。其他 7 例患者检测到不同的杂合突变。1 例患者检测到纯合和杂合 R202Q 突变。
我们建议 FMF 在隐匿性肝硬化的病因鉴别诊断中起作用。
Zotero 插件