Atypical hemolytic uremic syndrome induced by SARS-CoV2 infection in infants with EXOSC3 mutation.
Pediatr Nephrol
; 37(11): 2781-2784, 2022 11.
Article
in English
| MEDLINE | ID: covidwho-1941662
ABSTRACT
BACKGROUND:
Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by systemic thrombotic microangiopathy mainly in the kidneys and mostly due to genetic disorders leading to uncontrolled activation of the complement system. Severe complications of SARS-CoV2 infection are linked to microvascular injury and complement activation is suspected to play a role in the pathogenesis of endothelial cell damage in severe COVID-19.METHODS:
We present the first two cases of aHUS triggered by SARS-CoV-2 infection in two unrelated infants with the same mutation in the RNA exosome gene EXOSC3. This mutation is known to cause pontocerebellar hypoplasia type 1b, an autosomal-recessive neurodegenerative disease. So far, no kidney involvement in affected persons was reported.RESULTS:
As eculizumab treatment was unsuccessful and complement-mediated disorders were ruled out, we suppose that the atypical HUS in our two patients is not due to complement-mediated thrombotic microangiopathy but rather due to a dysfunction of the RNA exosome.CONCLUSIONS:
The RNA exosome is crucial for the precise processing and degradation of nuclear and cytoplasmatic RNA. We suspect that the SARS-CoV-2 infection led to changes in RNA that could not be offset by the defective RNA exosome in our two patients. The accumulation/wrong processing of the viral RNA must have led to the endothelial cell damage resulting in aHUS. This would be a new - "RNA-induced" - mechanism of aHUS.Keywords
Full text:
Available
Collection:
International databases
Database:
MEDLINE
Main subject:
Neurodegenerative Diseases
/
Thrombotic Microangiopathies
/
Atypical Hemolytic Uremic Syndrome
/
COVID-19
Topics:
Long Covid
Limits:
Humans
/
Infant
Language:
English
Journal:
Pediatr Nephrol
Journal subject:
Nephrology
/
Pediatrics
Year:
2022
Document Type:
Article
Affiliation country:
S00467-022-05566-6
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