Valoti Elisabetta, Piras Rossella, Mele Caterina, Alberti Marta, Liguori Lucia, Breno Matteo, Bertulli Cristina, Bresin Elena, Donadelli Roberta
Department of Rare Diseases, Istituto di Ricerche Farmacologiche Mario Negri - IRCCS, Bergamo, Italy.
Department of Pediatrics, Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Nephron. 2022;146(6):593-598. doi: 10.1159/000523998. Epub 2022 Apr 11.
Hemolytic uremic syndrome (HUS) is a rare disease characterized by hemolytic anemia, thrombocytopenia, and renal impairment mostly triggered by strains of Shiga-like toxin-producing Escherichia coli (STEC-HUS). A rarer form of HUS, defined as atypical HUS (aHUS), is associated with genetic or acquired dysregulation of the alternative pathway of the complement system and presents a poorer prognosis than STEC-HUS. Factor H autoantibodies (anti-FHs) have been reported in aHUS in 5-11% of cases and are strongly associated with the homozygous deletion of CFHR3-CFHR1 genes. In the large majority of patients, anti-FH-associated aHUS is commonly preceded by gastrointestinal or respiratory tract infections. Here, we described the clinical case of a 3-year-old boy who was hospitalized for aHUS preceded by Mycoplasma pneumoniae (MP) infection. He resulted positive for anti-FHs and carried the homozygous deletion of CFHR3-CFHR1. Of relevance, he also showed a variant of unknown significance in the C5 gene. The patient was successfully treated with eculizumab and achieved hematological and renal remission. The anti-FH titer decreased, became negative after 6 months of mycophenolate mofetil (MMF) treatment, and remained negative for 21-month follow-up indicating that immunosuppression was effective and could prevent the reappearance of anti-FHs. We hypothesized that MP, likely through an evasion strategy of immunosurveillance based on binding of pathogen to FH, triggers anti-FH antibody generation and aHUS in a subject genetically predisposed. In conclusion, to the best of our knowledge, here, we reported the first case of anti-FH-mediated aHUS after an MP infection who benefited from eculizumab and immunosuppressive therapy based on MMF. Hence, monitoring of anti-FHs in patients with post-MP infection glomerulonephritis could be recommended, especially in those with low C3 plasma levels.
溶血尿毒综合征(HUS)是一种罕见疾病,其特征为溶血性贫血、血小板减少和肾功能损害,主要由产志贺样毒素大肠杆菌菌株(STEC-HUS)引发。一种更罕见的HUS形式,定义为非典型HUS(aHUS),与补体系统替代途径的遗传或获得性失调相关,且预后比STEC-HUS更差。在5%-11%的aHUS病例中报告了H因子自身抗体(抗-FHs),并且与CFHR3-CFHR1基因的纯合缺失密切相关。在绝大多数患者中,抗-FH相关的aHUS通常在胃肠道或呼吸道感染之后出现。在此,我们描述了一名3岁男孩的临床病例,他因肺炎支原体(MP)感染后发生aHUS而住院。他的抗-FHs检测呈阳性,并且携带CFHR3-CFHR1的纯合缺失。值得注意的是,他在C5基因中还表现出一种意义不明的变异。该患者接受依库珠单抗治疗成功,实现了血液学和肾脏缓解。抗-FH滴度下降,在霉酚酸酯(MMF)治疗6个月后变为阴性,并且在21个月的随访中一直保持阴性,表明免疫抑制有效且可防止抗-FHs再次出现。我们推测,MP可能通过基于病原体与H因子结合的免疫监视逃避策略,在遗传易感个体中触发抗-FH抗体产生和aHUS。总之,据我们所知,在此我们报告了首例MP感染后抗-FH介导的aHUS病例,该病例受益于依库珠单抗和基于MMF的免疫抑制治疗。因此,对于MP感染后肾小球肾炎患者,尤其是那些血浆C3水平较低的患者,建议监测抗-FHs。