A148 SIROLIMUS FOR PRIMARY INTESTINAL LYMPHANGIECTASIA IN A PEDIATRIC PATIENT
Notice bibliographique
Résumé
Primary intestinal lymphangiectasia (PIL) is a rare digestive disorder characterized by morphologic abnormalities in the intestinal lymphatics resulting in protein losing enteropathy (PLE). PIL usually presents early in childhood with persistent diarrhea, peripheral edema and ascites. Diet is the cornerstone of medical management, along with iv albumin infusions. Octreotide has been used in more severe cases. Altered expression of lymphangiogenesis regulator genes has been demonstrated in PIL. Several reports have suggested that blocking expression of vascular endothelial growth factor (VEGF), a key regulator in lymphangiogenesis, via the mTOR signaling pathway, may have some clinical benefit in PIL. To describe a unique presentation of primary intestinal lymphangiectasia and share our experiences in clinical management, including a novel treatment with sirolimus. Case report and literature review. We present the case of a 12-year-old boy who initially presented at 8 years of age with tetany and hypocalcemia, along with a 4-month history of intermittent abdominal pain, fatigue and weight loss. Initial investigations revealed severe hypovitaminosis D, hypoalbuminemia, hypoglobulinemia and elevated fecal alpha-1-antitrypsin. Upper endoscopy revealed antral nodularity and ulceration and was positive for H.pylori. He was diagnosed with PLE secondary to H.pylori infection and pseudohypoparathyroidism. Due to persistent hypoalbuminemia and lymphopenia after triple therapy, repeat endoscopy was performed. Biopsies showed intestinal lymphangiectasia in the duodenum and video capsule endoscopy revealed jejunal involvement as well and he was diagnosed with PIL. He responded to a high protein, low fat diet with high medium-chain triglyceride (MCT) content and albumin infusions; serum albumin was 32 g/L at maximal response. Octreotide was later initiated due to increasing edema and fatigue, which resulted in clinical and biochemical improvement along with decreased dependence on albumin infusions. Unfortunately, his response waned over time and he presented 4 years later with severe fatigue, edema, frequent stooling, hypoalbuminemia and lymphopenia. Based on reports that mTOR inhibitors may be a promising treatment for PIL, we initiated treatment with sirolimus in July 2018. Despite no significant improvement in albumin levels as of yet, the patient has demonstrated improved energy and his albumin has remained stable despite no intercurrent albumin infusions. We are continuing to optimize dosing and monitor for clinical response to this novel treatment. To the best of our knowledge, this is the first reported case using sirolimus for treatment of PIL refractory to standard medical management. The patient’s prognosis and clinical course remain to be determined. None
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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 | 0,001 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 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 ».