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oai:repisalud.isciii.es:20.500.12105/229202024-11-28T19:38:38Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967
Repisalud author Lumbreras, Javier author Subias, Marta author Espinosa, Natalia author Ferrer, Juana Maria author Arjona, Emilia author Rodriguez de Cordoba, Santiago 2024-09-13T09:13:30Z 2024-09-13T09:13:30Z 2020-07-16 Lumbreras J, Subias M, Espinosa N, Maria Ferrer J, Arjona E, Rodriguez De Cordoba S. The Relevance of the MCP Risk Polymorphism to the Outcome of aHUS Associated With C3 Mutations. A Case Report. Front Immunol. 2020 Jul 16;11:1348. 10.3389/fimmu.2020.01348 1664-3224 Frontiers in Immunology http://hdl.handle.net/20.500.13003/10043 32765494 L632466400 2-s2.0-85088795730 https://hdl.handle.net/20.500.12105/22920 556770600001 Thrombotic microangiopathy (TMA) has different etiological causes, and not all of them are well understood. In atypical hemolytic uremic syndrome (aHUS), the TMA is caused by the complement dysregulation associated with pathogenic mutations in complement components and its regulators. Here, we describe a pediatric patient with aHUS in whom the relatively benign course of the disease confused the initial diagnosis. A previously healthy 8-year-old boy developed jaundice, hematuria, hemolytic anemia, thrombopenia, and mild acute kidney injury (AKI) in the context of a diarrhea without hypertension nor oliguria. Spontaneous and complete recovery was observed from the third day of admission. Persistent low C3 plasma levels after recovery raised the suspicion for aHUS, which prompted clinicians to discard the initial diagnosis of Shigatoxin-associated HUS (STEC-HUS). A thorough genetic and molecular study of the complement revealed the presence of an isolated novel pathogenic C3 mutation. The relatively benign clinical course of the disease as well as the finding of ade novopathogenic C3 mutation are remarkable aspects of this case. The data are discussed to illustrate the benefits of identifying the TMA etiological factor and the relevant contribution of the MCP aHUS risk polymorphism to the disease severity. eng C3 MCP risk polymorphism Atypical hemolytic uremic syndrome De novomutation Case report The Relevance of the MCP Risk Polymorphism to the Outcome of aHUS Associated With C3 Mutations. A Case Report research article