A Report of 2 Cases of Kidney Involvement in ADA2 Deficiency: Different Disease Phenotypes and the Tissue Response to Type I Interferon.
Am J Kidney Dis
; 80(5): 677-682, 2022 11.
Article
em En
| MEDLINE
| ID: mdl-35817275
ABSTRACT
Adenosine deaminase 2 (ADA2) deficiency is a rare autosomal recessive disease that is caused by loss-of-function mutations in the ADA2 gene. It is considered a monogenic form of polyarteritis nodosa and frequently is positive for a type I interferon (IFN) signature. Renal manifestations in ADA2 deficiency are poorly characterized. We herein report 2 cases of ADA2 deficiency with different kidney patterns due, respectively, to a predominantly macroscopic and microscopic vasculopathy, and review the literature on kidney disease in ADA2 deficiency. Patient 1 presented with a spontaneous perirenal hematoma; angiography demonstrated multiple microaneurysms but no further defects of the renal parenchyma; his kidney function remained normal. Patient 2 experienced slowly deteriorating kidney function and proteinuria. No major angiographic abnormalities were detected, while kidney biopsy revealed massive vasculopathy resembling chronic thrombotic microangiopathy (TMA) of the small and medium-sized vessels. Both patients had a positive peripheral type I IFN signature. In immunofluorescence staining of a kidney biopsy sample from patient 2, we observed marked expression of the type I IFN-induced protein MXA within endothelial cells, especially in vessels with TMA, and in infiltrating T cells. Our findings confirm that the kidney phenotype of ADA2 deficiency results from small and medium-sized vessel vasculopathy and suggest that type I IFN may be involved in the pathogenesis of kidney lesions.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Poliarterite Nodosa
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Doenças Vasculares
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Interferon Tipo I
Limite:
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article