Atypical hemolytic-uremic-syndrome in infants with genetic mutations. Report of three cases

Authors

  • Reyner Loza Departamento de Clínicas Médicas, Facultad Medicina Alberto Hurtado. Universidad Peruana Cayetano Heredia. Lima, Perú. Unidad de Nefrología Pediátrica, Servicios de especialidades, Departamento de Pediatría. Hospital Cayetano Heredia. Lima, Perú. https://orcid.org/0000-0003-1769-9527
  • Fernando Arias Unidad de Nefrología Pediátrica, Servicios de especialidades, Departamento de Pediatría. Hospital Cayetano Heredia. Lima, Perú https://orcid.org/0000-0002-9050-0740
  • Angelica Ynguil Unidad de Nefrología Pediátrica, Servicios de especialidades, Departamento de Pediatría. Hospital Cayetano Heredia. Lima, Perú https://orcid.org/0000-0003-3271-5820
  • Nathalie Rodríguez Unidad de Nefrología Pediátrica, Servicios de especialidades, Departamento de Pediatría. Hospital Cayetano Heredia. Lima, Perú https://orcid.org/0000-0001-8516-6058
  • Víctor Neyra Laboratorio de Histocompatibilidad y Biología Molecular, Unidad de Trasplante Renal. Hospital Cayetano Heredia. Lima, Perú. Carrera de Ingeniería Biomédica, Facultad de Ciencias, Universidad Peruana Cayetano Heredia. Lima, Perú. https://orcid.org/0000-0003-4654-0718

DOI:

https://doi.org/10.20453/rmh.v33i1.4167

Keywords:

Hemolytic uremic syndrome, mutation, infant

Abstract

The atypical hemolytic uremic syndrome (aHUS) is a rare clinical entity, but it is the most common cause of acute kidney failure in kids. The disease is characterized by microangiopathic hemolytic anemia, thrombocytopenia and acute renal failure, and it is associated with high morbidity and systemic involvement. We report here three cases of aHUS in infants presenting with prodromal respiratory symptoms, diarrhea, hemolytic anemia, thrombocytopenia and acute renal failure. aHUS cases depict mutations in several genes: membrane cofactor protein (MCP) and complement factor H related proteins 1 and 5 (CFH, RP1 and PR5. Two our patients showed mutations in the genes CFH and MCP, and one presented a new non-previously reported mutation in the gen C3. Our results emphasize the existence of these aHUS mutations and underscore the need to study them to prevent morbidity and mortality.

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Published

2022-03-31

How to Cite

1.
Loza R, Arias F, Ynguil A, Rodríguez N, Neyra V. Atypical hemolytic-uremic-syndrome in infants with genetic mutations. Report of three cases. Rev Med Hered [Internet]. 2022 Mar. 31 [cited 2024 Apr. 20];33(1):41-6. Available from: https://revistas.upch.edu.pe/index.php/RMH/article/view/4167

Issue

Vol. 33 No. 1 (2022): January-March

Section

CASE REPORTS

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