Identification of Patients with Potential Undiagnosed Atypical Hemolytic Uremic Syndrome (aHUS) in the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS) Registry
Notice bibliographique
Résumé
Background: Atypical Hemolytic Uremic Syndrome (aHUS) is a rare disease characterized by thrombocytopenia, microangiopathic hemolytic anemia, and impaired kidney function. Diagnosis of aHUS is complicated by its similarity to other forms of thrombotic microangiopathy (TMA). The recognition of aHUS has become more commonplace in the last 10 years due to advancements in laboratory diagnostics and targeted complement inhibition. Although acute presentation with fulminant TMA are readily diagnosed, more indolent presentations may not be recognized as aHUS but may progress if untreated to end-stage kidney disease. Methods: Potential participants were identified from the 3 NAPRTCS registry arms through a query of underlying diagnoses that could be associated with TMA or unknown etiology and transplant eligibility (defined as eGFR <30 ml/min/1.73m2, history of maintenance dialysis or kidney transplant). Identified participants were eligible if they had evidence of TMA (thrombocytopenia, schistocytes, decreased hemoglobin levels, elevated lactate dehydrogenase, and/or decreased haptoglobin levels). Enrollees were evaluated for evidence of thrombocytopenia and severe anemia as a marker of microangiopathic hemolysis. Major organ symptoms and growth factors (height or weight z-score <-2.0), were also reviewed at the time of potential TMA. Results: Ninety-five participants were identified in the query of diagnosis and transplant eligibility. Thirty-three (35%) participant records from 9 NAPRTCS centers were available for retrospective review and had at least one marker of potential TMA. The most common CKD diagnoses were AKI (27%), Lupus (27%) and unknown (22%). They were 55% biological female and median age at enrollment was 15 years. Thrombocytopenia OR microangiopathic hemolysis were each suspected in 74% of participants, while 42% had evidence of both. Major organ involvement most frequently identified at time of suspected TMA episodes included cardiac (hypertension; 31%) and gastrointestinal (19%), while 44% of participants had evidence of growth failure or were underweight. Conclusions: This analysis shows that there may be a higher prevalence of aHUS in the NAPRTCS registries than was previously thought. Funding: Commercial Support - Alexion Pharmaceuticals, Inc.
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 | 0,001 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,001 | 0,000 |
| Bibliométrie | 0,000 | 0,001 |
| Études des sciences et des technologies | 0,000 | 0,002 |
| 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 ».