Pediatric Atypical Hemolytic Uremic Syndrome Advances.
Cells
; 10(12)2021 12 18.
Article
em En
| MEDLINE
| ID: mdl-34944087
ABSTRACT
Atypical hemolytic uremic syndrome (aHUS) is a rare disorder characterized by dysregulation of the alternate pathway. The diagnosis of aHUS is one of exclusion, which complicates its early detection and corresponding intervention to mitigate its high rate of mortality and associated morbidity. Heterozygous mutations in complement regulatory proteins linked to aHUS are not always phenotypically active, and may require a particular trigger for the disease to manifest. This list of triggers continues to expand as more data is aggregated, particularly centered around COVID-19 and pediatric vaccinations. Novel genetic mutations continue to be identified though advancements in technology as well as greater access to cohorts of interest, as in diacylglycerol kinase epsilon (DGKE). DGKE mutations associated with aHUS are the first non-complement regulatory proteins associated with the disease, drastically changing the established framework. Additional markers that are less understood, but continue to be acknowledged, include the unique autoantibodies to complement factor H and complement factor I which are pathogenic drivers in aHUS. Interventional therapeutics have undergone the most advancements, as pharmacokinetic and pharmacodynamic properties are modified as needed in addition to their as biosimilar counterparts. As data continues to be gathered in this field, future advancements will optimally decrease the mortality and morbidity of this disease in children.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fator I do Complemento
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Fator H do Complemento
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Diacilglicerol Quinase
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Síndrome Hemolítico-Urêmica Atípica
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Mutação
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article