CFH nonsense mutation-mediated pregnancy-associated atypical hemolytic uremic syndrome: Case report

Abstract

Pregnancy-associated hemolytic uremic syndrome (P-aHUS) is characterized by microvascular hemolytic anemia, thrombocytopenia, and acute organ damage, particularly acute kidney injury, occurring during pregnancy or in the postpartum period. This rare disease has been associated with mutations in genes that regulate the complement system in most reported cases. This article introduces a 38-year-old maternal, who gave birth again after 13 years. Approximately four days post-cesarean section, she developed severe anemia, thrombocytopenia, renal impairment, and abnormal liver function, prompting urgent symptomatic treatment by the doctor. Subsequent detections revealed decreased complement C3 levels, a negative result for the ADAMTS13 inhibitory antibody, and a negative stool culture for bacterial fungi. The diagnosis of P-aHUS was confirmed, and the condition was successfully managed with complement blockade therapy using Eculizumab. Genetic sequencing of the complement factor H (CFH) gene revealed the c.3643 C > T mutation (p.Arg1215*), indicating the presence of rare CFH gene variants that may contribute to the patient's condition. These findings elucidate the clinical manifestations and treatment responses associated with the rare disease P-aHUS in relation to specific gene mutations. We underscore the significance of genetic testing for accurate diagnosis and personalized treatment, offering new insights and evidence for the future clinical management and research of similar cases.