Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature review
| Autor: | Rita Quental, Iva Brito, João Luís Barreira, Graça Barros Loureiro, Carla Pinto Moura, Rúben Dos-Reis-Maia, Mariana Rodrigues, Sara Ganhão, Francisca Aguiar, Diana Rita Oliveira |
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| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
Adenosine Deaminase Disease 03 medical and health sciences 0302 clinical medicine Rheumatology Agammaglobulinemia Internal medicine Humans Medicine 030212 general & internal medicine Child Genetic testing 030203 arthritis & rheumatology medicine.diagnostic_test business.industry Polyarteritis nodosa ADA2 DEFICIENCY General Medicine ADENOSINE DEAMINASE 2 medicine.disease Phenotype Dermatology Polyarteritis Nodosa Gene expression profiling Intercellular Signaling Peptides and Proteins Severe Combined Immunodeficiency business |
| Zdroj: | Clinical Rheumatology. 39:3853-3860 |
| ISSN: | 1434-9949 0770-3198 |
| Popis: | Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease resulting from loss-of-function pathogenic variants in ADA2 gene, which might resemble polyarteritis nodosa (PAN). The authors present two pediatric cases of ADA2 deficiency with phenotypic manifestations of PAN, including an unusual presentation with spinal cord ischemia. Also described is an assessment of ADA2 activity and gene expression profiling with description of a previously unreported homozygous variant, c.1226C > A (p.(Pro409His)), detected in a patient with consanguineous parents, confirmed by near-absent ADA2 plasma enzymatic activity. The authors suggest to first obtain enzymatic activity, whenever DADA2 is suspected, before proceeding to genetic testing, due to its excellent cost-effective results. Moreover, physicians must be aware of this monogenic disorder, especially in the case of early-onset PAN-like manifestations, having a family member with similar manifestations or having consanguineous parents suggesting an autosomal recessive inheritance pattern. Given the multi-organ involvement, recognizing the diverse manifestations is a crucial step towards timely diagnosis and management of this potentially fatal but often treatable syndrome. |
| Databáze: | OpenAIRE |
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