Resumo

BENITEZ, Irene et al. Severe pericarditis as the first manifestation of a combination of genetic autoinflammatory disease and genetic anemia. Case report: Pericarditis and NLRP3 and G6PD. Rev. parag. reumatol. [online]. 2025, vol.11, n.1, pp.29-32. ISSN 2413-4341.  https://doi.org/10.18004/rpr/2025.11.01.29.

ABSTRACT

Pericarditis is one of the most common pericardial diseases. The activation of the NLRP3 (nucleotide-binding andoligomerization (NOD) like receptor (NLR) containing pyrin domain (NLRP) 3) inflammasome is central in the genesis of autoinflammatory pericarditis. Cryopyrin-associated periodic syndrome (CAPS) is a rare, heterogeneous disease associated with NLRP3 gene pathogenic variants and increased interleukin-1 (IL-1) secretion. Glucose-6-phosphate dehydrogenase (G6PD) deficiency in erythrocytes causes acute haemolytic anaemia during distress or chronic non responsive to iron anemia X-linked. We present the case of a male 1-year-9-months-old patient, with pericarditis and hemolytic anemia, diagnosed as inherited X-linked Glucose 6 Phosphate Dehydrogenase Deficiency p.[Val68Met;Asn126Asp] haplotype, and a heterozygous pathogenic variant in the NLRP3 gene: c.1315G>A/p.Ala439Thr compatible with Autosomal Dominant Cryopyrin Associated Periodic Syndrome. This is the first Paraguayan patient with a “de novo” autoinflammatory condition coexisting with a glucose 6-phosphate dehydrogenase deficiency.

Palavras-chave : Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency; Cryopyrin-associated periodic syndrome (CAPS); Pericarditis; hemolytic anemia.

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