Joint involvement in Noonan syndrome. A retrospective paediatric descriptive study.

Autor: Le Quellec A; Rheumatology department, Center of Autoimmune Rare Diseases (CERAINO), CHU Cavale Blanche, Brest, France., Edouard T; Endocrinology, bone diseases and genetics unit, hôpital des Enfants, CHU de Toulouse, France., Audebert-Bellanger S; Pediatric and genetic department, CHU Morvan, Brest, France., Pouzet A; Pediatric and genetic department, CHU Morvan, Brest, France., Bourdet K; Pediatric department, CHU Morvan, Brest, France., Colson C; Genetic department, CHU de Caen, France., Oriot C; Pediatric and genetic department, CHU de Nantes, France., Poignant S; Pediatric and genetic department, CHU de Nantes, France., Saraux A; Rheumatology department, Center of Autoimmune Rare Diseases (CERAINO), CHU Cavale Blanche, Brest, France; Endocrinology, bone diseases and genetics unit, hôpital des Enfants, CHU de Toulouse, France; Pediatric and genetic department, CHU Morvan, Brest, France; Pediatric department, CHU Morvan, Brest, France; Genetic department, CHU de Caen, France; Pediatric and genetic department, CHU de Nantes, France; UMR1227, Inserm, université de Bretagne Occidentale, Brest, France., Devauchelle-Pensec V; Rheumatology department, Center of Autoimmune Rare Diseases (CERAINO), CHU Cavale Blanche, Brest, France; Endocrinology, bone diseases and genetics unit, hôpital des Enfants, CHU de Toulouse, France; Pediatric and genetic department, CHU Morvan, Brest, France; Pediatric department, CHU Morvan, Brest, France; Genetic department, CHU de Caen, France; Pediatric and genetic department, CHU de Nantes, France; UMR1227, Inserm, université de Bretagne Occidentale, Brest, France. Electronic address: valerie.devauchelle-pensec@chu-brest.fr.
Jazyk: angličtina
Zdroj: Joint bone spine [Joint Bone Spine] 2022 Jan; Vol. 89 (1), pp. 105270. Date of Electronic Publication: 2021 Sep 14.
DOI: 10.1016/j.jbspin.2021.105270
Abstrakt: Objectives: Noonan syndrome is a rare genetic disorder characterized mainly by congenital heart disease, occasional intellectual disability, and varied orthopaedic, rheumatological and haematologic anomalies. Despite potentially serious functional consequences, joint involvement has been rarely studied in the literature. Our objective was to perform a retrospective study evaluating the prevalence and characteristics of joint involvement in Noonan syndrome.
Methods: We recorded articular symptoms, including their type and frequency, in patients with Noonan syndrome followed up in French hospitals. Patients were included if the diagnosis was confirmed before the age of 20 based on the van der Burgt criteria or genetic analysis. Data are presented as frequencies or medians (ranges), and patient groups were compared using chi-square or Fisher tests.
Results: Seventy-one patients were included from 4 centres. The average age was 12.5 years (range: 2-36). Musculoskeletal pain was found in 18 patients (25%) and joint stiffness in 10 (14%) located in the wrists, elbows, ankles, knees and hips, which was usually bilateral. Only one destructive form was described (multiple villonodular synovitis and a giant cell lesion of the jaw). There were no cases of systemic lupus erythaematosus (SLE) or other autoimmune arthritis. Raynaud's phenomenon was observed in 3 patients. Only 50% of joint complaints led to additional exploration. SOS1 mutations (P<0.05) and treatment with growth hormone (GH) (P<0.05) were the only factors significantly related to musculoskeletal pain. Patients treated with GH did not have more SOS1 mutations. Patients experiencing pain were not more likely to experience stiffness, joint hypermobility, or coagulation abnormalities.
Conclusion: Joint manifestations were frequent in Noonan syndrome, predominant in large joints, and rarely explored. Multiple villonodular synovitis is characteristic but rare. Auto-immune disorders were not described in this cohort. A more multidisciplinary approach could be recommended for the early detection of possibly disabling rheumatologic manifestations.
(Copyright © 2021. Published by Elsevier Masson SAS.)
Databáze: MEDLINE
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