Sompornrattanaphan Mongkhon, Tongdee Ranista, Wongsa Chamard, Jitmuang Anupop, Thongngarm Torpong
Division of Allergy and Clinical Immunology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Bangkok Noi, Bangkok, 10700, Thailand.
Department of Diagnostic Radiology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Allergy Asthma Clin Immunol. 2022 Jan 7;18(1):2. doi: 10.1186/s13223-021-00643-1.
Nodular regenerating hyperplasia (NRH) is the most common liver involvement in common variable immunodeficiency (CVID). Most patients are asymptomatic with gradually increasing alkaline phosphatase (ALP) and mildly elevated transaminase enzymes over the years. We report the first case of fatal liver mass rupture in a CVID patient with probable NRH.
A 24-year-old man was diagnosed with CVID at the age of 1.25 years. Genetic testing revealed a transmembrane activator and calcium-modulator and cyclophilin-ligand interactor (TACI) mutation. He had been receiving intravenous immunoglobulin (IVIg) replacement therapy ever since then. The trough level of serum IgG ranged between 750-1200 mg/dL. However, he still had occasional episodes of lower respiratory tract infection until bronchiectasis developed. At 22 years old, computed tomography (CT) chest and abdomen as an investigation for lung infection revealed incidental findings of numerous nodular arterial-enhancing lesions in the liver and mild splenomegaly suggestive of NRH with portal hypertension. Seven months later, he developed sudden hypotension and tense bloody ascites. Emergency CT angiography of the abdomen showed NRH with intrahepatic hemorrhage and hemoperitoneum. Despite successful gel foam embolization, the patient died from prolonged shock and multiple organ failure.
Although CVID patients with NRH are generally asymptomatic, late complications including portal hypertension, hepatic failure, and hepatic rupture could occur. Therefore, an evaluation of liver function should be included in the regular follow-up of CVID patients.
结节性再生性增生（NRH）是常见可变免疫缺陷（CVID）中最常见的肝脏受累情况。大多数患者无症状，多年来碱性磷酸酶（ALP）逐渐升高，转氨酶轻度升高。我们报告首例可能患有NRH的CVID患者发生致命性肝肿块破裂的病例。
一名24岁男性在1.25岁时被诊断为CVID。基因检测发现跨膜激活剂、钙调蛋白和亲环素配体相互作用分子（TACI）突变。从那时起，他一直在接受静脉注射免疫球蛋白（IVIg）替代治疗。血清IgG谷值在750 - 1200mg/dL之间。然而，在支气管扩张症发展之前，他仍偶尔有下呼吸道感染发作。22岁时，因肺部感染进行胸部和腹部计算机断层扫描（CT）检查时，偶然发现肝脏有许多结节状动脉强化病变，脾脏轻度肿大，提示为伴有门静脉高压的NRH。七个月后，他突然出现低血压和血性腹水。腹部急诊CT血管造影显示为NRH伴肝内出血和腹腔积血。尽管成功进行了明胶海绵栓塞，但患者因长时间休克和多器官衰竭死亡。
尽管患有NRH的CVID患者通常无症状，但可能会发生包括门静脉高压、肝衰竭和肝破裂在内的晚期并发症。因此，在CVID患者的定期随访中应包括肝功能评估。
