Choi Hong Sang, Yun Jae Won, Kim Hee-Jin, Oh Doyeun, Kim Nah Ihm, Kim Chang Seong, Ma Seong Kwon, Kim Soo Wan, Bae Eun Hui
Department of Internal Medicine, Chonnam National University Medical School, Gwangju, Korea.
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Ann Transl Med. 2021 Jan;9(1):79. doi: 10.21037/atm-20-3789.
We report a case of atypical hemolytic uremic syndrome (HUS) that occurred after childbirth. A 33-year-old female was admitted to the emergency room, complaining of abdominal pain six days after giving birth to twins. The patient was diagnosed with hemoperitoneum due to hepatic hemangioma rupture and a left lateral hepatectomy was performed. Angioembolization was performed for the accompanying uterine artery bleeding. After that, her kidney function worsened after the 12th day postpartum. Microangiopathic anemia, thrombocytopenia and renal dysfunction were observed. Shiga toxin-producing Escherichia coli was negative in the stool. Plasma ADMATS 13 activity was normal. After transfer to the nephrology department with suspected atypical HUS, the patient underwent fresh frozen plasma (FFP) transfusion with three hemodialysis sessions. The patient improved without additional dialysis, but a renal biopsy was performed because of persistent proteinuria. Renal pathologic findings were compatible with thrombotic microangiopathy. A genetic test for atypical HUS revealed variants of uncertain significance in the complement factor H related (CFHR) 4 gene and the presence of CFHR3-CFHR1 copy number gain. The copy number gain found in this case is a rare causative mutation of atypical HUS. This case suggests that genetic testing of atypical HUS should include analysis of rearrangements as well as general screening for complement-associated genes.
我们报告一例产后发生的非典型溶血性尿毒症综合征（HUS）病例。一名33岁女性因产后六天出现腹痛被收入急诊室。该患者因肝血管瘤破裂被诊断为腹腔积血，并接受了左肝外侧切除术。对伴随的子宫动脉出血进行了血管栓塞术。此后，她在产后第12天肾功能恶化。观察到微血管病性贫血、血小板减少和肾功能不全。粪便中产志贺毒素大肠杆菌检测为阴性。血浆ADMATS 13活性正常。在因疑似非典型HUS转入肾病科后，患者接受了新鲜冰冻血浆（FFP）输注及三次血液透析治疗。患者未再进行额外透析即有所好转，但因持续性蛋白尿进行了肾活检。肾脏病理结果与血栓性微血管病相符。非典型HUS的基因检测显示补体因子H相关（CFHR）4基因存在意义未明的变异，且存在CFHR3 - CFHR1拷贝数增加。本病例中发现的拷贝数增加是非典型HUS一种罕见的致病突变。该病例表明非典型HUS的基因检测应包括重排分析以及补体相关基因的常规筛查。
