| Autor: |
Cinteza E; Department of Pediatrics, 'Carol Davila' University of Medicine and Pharmacy, 020021 Bucharest, Romania.; Department of Pediatric Cardiology, 'Marie Curie' Emergency Children's Hospital, 41451 Bucharest, Romania., Stefan D; Department of Pediatric Cardiology, 'Marie Curie' Emergency Children's Hospital, 41451 Bucharest, Romania., Iancu MA; Department of Internal, Family and Occupational Medicine, 'Carol Davila' University of Medicine and Pharmacy, 020021 Bucharest, Romania., Ioan A; Department of Pediatrics, 'Alessandrescu Rusescu' National Institute for Mother and Child Health, 020395 Bucharest, Romania., Vasile CM; Pediatric and Adult Congenital Cardiology Department, M3C National Reference Centre, Bordeaux University Hospital, 3300 Bordeaux, France., Vatasescu R; Cardio-Thoracic Department, 'Carol Davila' University of Medicine and Pharmacy Bucharest, 020021 Bucharest, Romania.; Department of Cardiology, Clinic Emergency Hospital Bucharest, 050098 Bucharest, Romania., Cochino A; Department of Pediatrics, 'Carol Davila' University of Medicine and Pharmacy, 020021 Bucharest, Romania.; Department of Pediatrics, 'Alessandrescu Rusescu' National Institute for Mother and Child Health, 020395 Bucharest, Romania. |
| Abstrakt: |
Idiopathic recurrent pericarditis (IRP) can be the hallmark of an autoinflammatory syndrome with recurrent attacks of chest pain and symptom-free intervals following an acute episode. The recurrence rate may be 35% in the pediatric population, frequently with less severe manifestations than at the first episode. Pericarditis can be the sole clinical manifestation or may be part of a systemic autoinflammatory disease (SAID), especially in the case of a recurrence. Familial Mediterranean Fever (FMF), Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS), Mevalonate-Kinase Deficiency (MKD), nucleotide-binding oligomerization domain 2 (NOD2)-associated autoinflammatory syndrome, and others are closely related to IRP based on similar clinical manifestations and treatment responses to anti-interleukin 1 (IL-1) agents, such as anakinra, and should therefore be excluded in patients with IRP. A newly described SAID, an autosomal dominant disorder known as NLRP12-AID (nucleotide-binding leucine-rich repeat-containing receptor 12-related autoinflammatory disease) is caused by heterozygous mutations in the NLRP12 gene and most commonly affects children. Fewer than 40 pediatric patients with NLRP12-AID have been described in the medical literature, with none presenting with RP. We report a case of relapsing pericarditis responsive to anti-IL-1 therapy in a male adolescent who carried a missense mutation in the NLRP12 gene potentially causative of the excessive activation of inflammatory pathways. This is a unique case in the medical literature that associates recurrent pericarditis in an adolescent presumed to be related to the missense mutation in the NLRP12 gene. The role of the NLRP12 inflammasome in generating and maintaining recurrent pericardial inflammation should be considered. |
