A69 LONG-TERM EFFECTS OF TORKELSON SYNDROME
Notice bibliographique
Résumé
Abstract Background Torkelson Syndrome is a rare, familial enteropathy with villous edema causing recurrent episodes of life threatening vomiting and secretory diarrhea in childhood, with children being well between episodes. The only description, of a Mennonite family from southern Alberta, suggests normal growth and no long term sequelae. Severe laboratory abnormalities common during bouts of diarrhea (hypoalbuminemia, neutropenia and electrolyte abnormalities) normalize in the asymptomatic phase except for decreased IgG subclasses. Typical findings from the duodenum and jejunum do not vary between acute episodes and when well. The pathophysiology is poorly understood, with acute episodes thought to be triggered by a non-specific infection in the setting of IgG2 deficiency. Apolipoprotein A-IV (APOA4) mutation has been documented in Torkelson syndrome. APOA4 is exclusively expressed in proximal small intestine villous enterocytes. It is thought to be involved in regulating pathways that control inflammation in enterocytes, resulting in decreased inflammation. It may prevent recruitment of leukocytes to inflamed intestinal enterocytes by suppressing P-selectin in the endothelial cells. Fully functioning APOA4 decreases secretion of IL-4 and TNF-a. In theory, abnormalities in APOA4, could result in a robust, unopposed inflammatory response in the small intestine. Aims Report possible long-term sequelae of Torkelson Syndrome. Methods Case report. Results 13 year old male with Torkelson syndrome presents with short stature and iron deficiency anemia responsive to oral iron. His weight is at the 0.1%ile, height at the 0.4%ile and BMI at the 1.6%ile. Life time hypoalbuminemia (20g/L) indicates chronic protein-losing enteropathy. Vitamin D is chronically low but responds to oral supplementation. IgA and IgM are normal, but IgG and its subclasses are decreased. Liver enzymes and electrolytes, including calcium and phosphate, outside of episodes of diarrhea are normal. Endoscopy shows prominent, thick villi, with fern-like appearance in the duodenum with normal stomach, esophagus, terminal ileum and colon. Biopsy results are consistent with previously described features of Torkelson syndrome with no additional abnormalities. MRE shows mild dilatation of the jejunum with hypertrophic conniventes with fat content. Abdominal ultrasound shows hepatomegaly with coarse echotexture and normal elastography. He has delayed bone age and low bone density. Conclusions Patients with Torkelson syndrome, despite their recurrent episodes of life threatening vomiting and secretory diarrhea in childhood, were thought to have no long term sequelae including normal growth. Our patient, presents with chronic iron deficiency anemia, short stature, delayed bone age and density, and hepatomegaly of unknown significance. This case may broaden our knowledge of this poorly described condition to inform long term management of these patients. Funding Agencies 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 ».