Atypical hemolytic uremic syndrome in the Colombian Caribbean: its particular characteristics

• Published in: International urology and nephrology Vol. 54; no. 6; pp. 1323 - 1330
• Main Authors: Cabarcas-Barbosa, Omar, Aroca-Martínez, Gustavo, Musso, Carlos G., Ramos-Bolaños, Elizabeth, González-Tórres, Henry, Espitaleta-Vergara, Zilac, Domínguez-Vargas, Alex, Ararat-Rodriguez, Edufamir, Orozco, José, Castillo-Parodi, Luis, Conde-Manotas, Juan, Daza-Arnedo, Rodrigo, Rodríguez-SanJuan, Víctor, Gómez-Navarro, Liliana, Acosta-Madiedo, Roberto, Barros-Camargo, Luis, Aduen-Carrillo, Angélica, Ayola-Anaya, Francisco, Pulgar-Emiliani, María, Cadena-Bonfanti, Andrés
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01.06.2022; Springer Nature B.V
• Subjects: Adult; Atypical Hemolytic Uremic Syndrome - epidemiology; Atypical Hemolytic Uremic Syndrome - genetics; Atypical Hemolytic Uremic Syndrome - therapy; Autoimmune diseases; Colombia - epidemiology; Complement Activation; End-stage renal disease; Epidemiology; Female; Hemolytic uremic syndrome; Humans; Kidney diseases; Male; Medicine; Medicine & Public Health; Mortality; Nephrology; Nephrology - Original Paper; Patients; Pregnancy; Retrospective Studies; Thrombotic Microangiopathies - complications; Thrombotic Microangiopathies - diagnosis; Thrombotic Microangiopathies - drug therapy; Thrombotic microangiopathy; Urology; Colombia; Atypical hemolytic uremic syndrome; Extra-renal manifestations; Thrombotic microangiopathy
• ISSN: 1573-2584; 0301-1623; 1573-2584
• DOI: 10.1007/s11255-021-03011-5

Introduction Atypical hemolytic uremic syndrome (aHUS) is a rare and genetically mediated systemic disease most often caused by uncontrolled and chronic complement activation that leads to systemic thrombotic microangiopathy, renal and extra-renal damage. Materials and methods This is descriptive, retrospective and multicenter study, which reports demographic, clinical, laboratory, and genetic characteristics, as well as their treatment response and outcome of 20 aHUS patients diagnosed between 2014 and 2018. Results Most patients were female adults (75%) and 30% were associated to pregnancy/postpartum, 15% to autoimmune disease, and 65% to infections. Gastrointestinal involvement (75%) was the most frequent extra-renal organ damage. Antenatal mortality and mortality rate were 5% and 10%, respectively. 25% of the patients progressed to end-stage renal disease. In 4/8 of patients treated within 1 week of presentation, eculizumab treatment restored multi-organ function after 4 weeks of treatment. CFH (37%) and CFI (25%) mutations were the most frequent. Conclusion This is the first series of aHUS cases of Colombian Caribbean region which reports the clinical and epidemiological characteristics of this condition in this region.