Cheng Na, Qin Yu-Jie, Zhang Quan, Li Hong
Department of Infectious Diseases, Affiliated Hospital of Guizhou Medical University, Guizhou Medical University, Guiyang 550025, Guizhou Province, China.
Department of Infectious Diseases, Guizhou Provincial People's Hospital, Guiyang 550025, Guizhou Province, China.
World J Clin Cases. 2023 Jul 16;11(20):4903-4911. doi: 10.12998/wjcc.v11.i20.4903.
Gene mutations in ATP-binding cassette, subfamily B () lead to autosomal recessive disorders. Primary light amyloidosis is a rare and incurable disease. Here, we report a rare case of liver cirrhosis caused by gene mutation combined with primary light amyloidosis.
We report a case of a 25-year-old female who was hospitalized due to recurrent abdominal pain caused by calculous cholecystitis and underwent cholecystectomy. Pathological examination of the liver tissue suggested liver cirrhosis with bile duct injury. Exon analyses of the whole genome from the patient's peripheral blood revealed the presence of a heterozygous mutation in the gene. Bone marrow biopsy tissues, renal puncture examination, and liver mass spectrometry confirmed the diagnosis of a rare progressive familial intrahepatic cholestasis type 3 with systemic light chain type κ amyloidosis, which resulted in cirrhosis. Ursodeoxycholic acid and the cluster of differentiation 38 monoclonal antibody daretozumab were administered for treatment. Following treatment, the patient demonstrated significant improvement. Urinary protein became negative, peripheral blood-free light chain and urine-free light chain levels returned to normal, and the electrocardiogram showed no abnormalities. Additionally, the patient's lower limb numbness resolved, and her condition remained stable.
This report presents the diagnosis and treatment of liver cirrhosis, a rare disease that is easily misdiagnosed or missed.
ATP结合盒亚家族B（）基因突变可导致常染色体隐性疾病。原发性轻链淀粉样变性是一种罕见且无法治愈的疾病。在此，我们报告一例由基因突变合并原发性轻链淀粉样变性引起的肝硬化罕见病例。
我们报告一例25岁女性，因结石性胆囊炎反复发作腹痛入院并接受胆囊切除术。肝脏组织病理检查提示肝硬化伴胆管损伤。对患者外周血进行全基因组外显子分析，发现基因存在杂合突变。骨髓活检组织、肾穿刺检查及肝脏质谱分析确诊为罕见的进行性家族性肝内胆汁淤积症3型合并系统性轻链κ型淀粉样变性，进而导致肝硬化。给予熊去氧胆酸及分化簇38单克隆抗体达雷妥尤单抗进行治疗。治疗后，患者病情显著改善。尿蛋白转阴，外周血游离轻链和尿游离轻链水平恢复正常，心电图未见异常。此外，患者下肢麻木症状消失，病情保持稳定。
本报告介绍了一种易被误诊或漏诊的罕见疾病——肝硬化的诊断和治疗。
