Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature review

• Tipo: Artigo em Revista Científica Internacional
• Data: 2020

Autores

Ganhão, S (Autor) Outra; Loureiro, GB (Autor) Outra; Oliveira, DR (Autor) Outra; dos Reis Maia, R (Autor) Outra; Aguiar, F (Autor) Outra; Quental, R (Autor) Outra; Carla Pinto Moura (Autor) FMUP; Barreira, JL (Autor) Outra; Rodrigues, M (Autor) Outra; Brito, I (Autor) Outra

Revista

Título: Clinical Rheumatology

Vol. 39

Páginas: 3853-3860

ISSN: 0770-3198

Editora: Springer Nature

Indexação

ISI Web of Knowledge - 16 Citações

Scopus - 16 Citações

Outras Informações

ID Authenticus: P-00S-APB

DOI: 10.1007/s10067-020-05210-4

Abstract (EN): 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. © 2020, International League of Associations for Rheumatology (ILAR).

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 8