COMPREHENSIVE APPROACH TO DIAGNOSIS AND THE TREATMENT TACTICS OF ATYPICAL HEMOLYTIC UREMIC SYNDROME ASSOCIATED WITH A MUTATION IN THE CFH GENE: A CLINICAL CASE
Authors:   Moscow State University of Medicine and Dentistry named after A.I. Evdokimov, Moscow, Russia, Emirova Kh.M. ,   Saint Vladimir Moscow City Children's Clinical Hospital, Moscow, Russia, Lupan I.N. ,   Institute of Continuing Professional Education with the South Ural State Medical University (National Research University), Chelyabinsk, Russia,   Chelyabinsk City Children's Clinical Hospital No. 1, Chelyabinsk, Russia,   Chelyabinsk Oblast Regional Children's Clinical Hospital, Chelyabinsk, Russia, Pishchalnikov A.Y. ,   Institute of Continuing Professional Education with the South Ural State Medical University (National Research University), Chelyabinsk, Russia,   Chelyabinsk City Children's Clinical Hospital No. 1, Chelyabinsk, Russia,   Chelyabinsk Oblast Regional Children's Clinical Hospital, Chelyabinsk, Russia, Volyansky A.M. ,   Chelyabinsk Oblast Regional Children's Clinical Hospital, Chelyabinsk, Russia, Vasilkova D.S. ,   Institute of Continuing Professional Education with the South Ural State Medical University (National Research University), Chelyabinsk, Russia, Glukhova L.V. ,   Chelyabinsk Oblast Regional Children's Clinical Hospital, Chelyabinsk, Russia, Kudlay D.A. ,   I.M. Sechenov First Moscow State Medical University, Moscow, Russia,   GENERIUM, JSC, Pharmaceutical Company, Moscow, Russia, Muzurov A.L. ,   Saint Vladimir Moscow City Children's Clinical Hospital, Moscow, Russia,   Russian Medical Academy for Continuous Professional Education, Moscow, Russia, Orlova O.M. ,   Moscow State University of Medicine and Dentistry named after A.I. Evdokimov, Moscow, Russia,   Saint Vladimir Moscow City Children's Clinical Hospital, Moscow, Russia, Avdonin P.V. ,   N.K. Koltzov Institute of Developmental Biology of the Russian Academy of Sciences (IDB RAS), Moscow, Russia, Avdonin P.P. ,   N.K. Koltzov Institute of Developmental Biology of the Russian Academy of Sciences (IDB RAS), Moscow, Russia, Shatalov P.A. ,   National Medical Radiology Research Center, Obninsk, Kaluga Oblast, Russia, Kozina A.A. ,   Genotek, LLC, Moscow, Russia
Published: November 2022

The atypical hemolytic uremic syndrome (aHUS) is an ultra-rare disease with a genetically determined dysregulation of the alternative complement pathway, which leads to the development of thrombotic microangiopathy. The application of the targeted therapy in Russia has changed the natural course of the disease since 2012: from death of a patient to achieving a long-term remission of the aHUS. The authors report the clinical case of the aHUS associated with a heterozygous mutation in CFH gene c.2850G>T (p.Gln950His) in a 2 years and 2 months old pediatric patient. The difficulty in diagnosing of the aHUS was the lack of specific laboratory criteria confirming the diagnosis as well as the presence of a diarrheal prodrome at the onset. The diagnosis has been made on the basis of the development of microangiopathic hemolytic anemia, thrombocytopenia, acute kidney injury and the exclusion of other forms of thrombotic microangiopathy. The treatment of the patient in accordance with the clinical guidelines for the management of patients with this nosology proved to be effective and led to a stable remission of the aHUS, which also confirmed the correctness of the diagnosis. The described clinical case observation is of interest to pediatrician physicians and nephrologists. The important factors in the management of such patients are the timely diagnosis of the aHUS along with the initiation of complement-inhibiting Eculizumab therapy.