1 - Unidade de Reumatologia Pediátrica, Hospital Dona Estefânia, ULS São José
- Poster em Reunião Internacional – 31st European Paediatric Rheumatology Congress, congresso, 11-14/Setembro/2024 (Gotemburgo, Suécia)
- Publicação em forma de abstract
Primary juvenile sjogren syndrome: case series in a tertiary center
Inês Madureira, M Inês Marques, Cristina Henriques, Marta Conde, Margarida P. Ramos
Pediatric Rheumatology Unit, Hospital Dona Estefânia, ULS São José, Lisbon, Portugal
Pediatric Rheumatology 2024, 22(2): PReS24-ABS-1809
Resumo:
Introduction: Primary Sjögren Syndrome (pSS) is a chronic multisystem autoimmune disorder characterized by inflammation of the exocrine glands. Childhood-onset disease is rare and its most common feature is recurrent parotid swelling/parotitis, while extraglandular manifestations are less common. In 1999, Bartunkova proposed a set of criteria for the diagnosis of pSS in children, such as exists for adults, but these have yet to be validated.
Objectives: Characterization of demographics, clinical and complementary findings, treatment and outcomes in children with pSS, followed in a tertiary reference center for pediatric rheumatic diseases.
Methods: A single center retrospective analysis of children diagnosed with childhood-onset pSS using the classification criteria proposed by Bartunkova from 2000 to April 2024.
Results: Nine patients were identified (7 female), median age at diagnosis of 14 years (9-16y) and median time to diagnosis of 4.2y (0.6-5.9y). The most common clinical manifestations at diagnosis were recurrent parotitis (6/9), sicca symptoms (6/9: 3 with dry mouth and 3 with dry eye - one with keratoconjunctivitis sicca). During follow-up, three additional patients developed xeropthalmia (3/6 with a diminished Shirmer test), and two with xerostomia (2/9 with dental cavities and 3/9 with recurrent oral ulcers). Other manifestations present at diagnosis include constitutional symptoms (4/9), arthralgias/arthritis (4/9), and Raynaud Phenomenon (2/9). All patients had evaluation of their Diffusing Capacity for Carbon Monoxide, 2/9 showed reduced capacity and one also had an abnormal thoracic CT with ground-glass opacities. One patient had a pericardial effusion and another had a Central Nervous System venous thrombosis. All patients showed a positive ANA (³1:160); 8/9 had a positive anti-SSA/Ro antibody, 5/9 anti-SSB/La, 6/9 positive RF, and none had positive cryoglobulins. All patients underwent salivary gland ultrasound, which was abnormal in 8/9, and minor salivary gland biopsy, which revealed lymphoepithelial sialadenitis. Symptomatic treatment included the use of non-steroidal anti-inflammatories and topical artificial tears. Further pSS treatment included hydroxychloroquine (8/9), azathioprine (2/9), methotrexate (1/9) and oral steroids (2/9). During follow-up, the patients showed optimum symptomatic control and no occurrence of complications to date.
Conclusion: Childhood-onset pSS manifestations can be under-recognized which might account for the delay to diagnosis. Additionally, the absence of current validated diagnostic criteria render this a challenge. A high index of suspicion of pSS should be applied to children with recurrent parotitis, even in the absence of sicca symptoms, given that the latter are less common in pediatric age. In our case series, extraglandular involvement was frequent and, in most cases, present at diagnosis. Salivary gland ultrasoundwas a reliable diagnostic tool for sialadenitis, is readily available and non-invasive.
Palavras Chave: Primary Sjögren Syndrome; recurrent parotitis; sicca symptoms; extraglandular involvement; diagnostic criteria