A first description of chronic arthritis and uveitis in an adolescent girl with glycogen storage disease
Notice bibliographique
Résumé
A 15-year-old girl with GSD type 1a, presented with a 2 month history of right midfoot swelling. There were no systemic features and no history of previous infections. GSD type 1a had been diagnosed in infancy and genetic testing was positive for the 83R>C mutation. Her mother had inactive Crohn’s disease that had never required treatment. On musculoskeletal examination, she had a right midfoot arthritis but no enthesitis and back and sacroiliac joint examinations were normal. She had a mild microcytic anemia (Hgb 102 g/l) and an elevated erythrocyte sedimentation rate (ESR) of 30 mm (Winthrobe). No platelet dysfunction was identified. Serum uric acid was 559 (180-350 umol/L), which normalized within several months of strict dietary control. Serum glucose was normal and lactate was 6.2 (0-2.5 mmol/L). HLA-B27, rheumatoid factor (RF) and angiotensin converting enzyme were negative. The antinuclear antibody (ANA) was 1:80; extractable nuclear antigens (ENA), quantitative immunoglobulin and complement levels and urinalysis were normal. Abdominal ultrasound identified hepatic steatosis, as expected, without hepatomegaly or adenoma. X-rays of the right foot showed soft tissue swelling over the dorsum of the foot and the chest x-ray was normal. Subsequently, she developed right ankle and subtalar joint arthritis. The synovial fluid from the ankle was negative for both crystals and microorganisms. The right ankle, subtalar and midfoot joints were injected with triamcinolone hexacetonide, resulting in a short-lived response. Sulfasalazine was added since Methotrexate was contraindicated due to potential hepatotoxicity, compounded by the underlying disease. An MRI with gadolinium of the right ankle and foot confirmed synovitis and tenosynovitis with normal bone architecture and joint spaces. The patient then developed arthritis of the right wrist, left knee and left ankle. Nine months after the initial presentation, she developed anterior uveitis whose course was chronic and asymptomatic. Due to persisting disease activity and limited options for treatment due to the underlying disease, Adalimumab was initiated, which resulted in progressive and marked improvement of both the uveitis and the arthritis and was well-tolerated. This is the first description of a GSD patient with a chronic form of arthritis and uveitis. Synovial fluid analysis eliminated gout as a cause of arthritis. While IBD-related arthritis might have been postulated as the underlying cause, GSD type 1a is not associated with IBD. Of interest, treatment with Adalimumab in this patient resulted in significant resolution of both arthritis and uveitis.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,001 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».