Notice bibliographique
Résumé
Abstract Background and Aims Atypical HUS (aHUS) is a rare form of thrombotic microangiopathy (TMA) that results in complement-mediated damage of the microvascular endothelium, with renal impairment being the most common manifestation. Genetic defects result in over-activation of the alternative complement cascade and complement factor H (CFH) mutations are the most commonly detected. Due to incomplete penetrance, external factors ultimately trigger clinical manifestations of this disease in those who are genetically predisposed. Here, we describe an atypical first presentation of aHUS in an elderly female patient with rapidly worsening renal function and no obvious precipitating factor. She was successfully treated with eculizumab, a terminal complement cascade inhibitor, with biochemical improvement in her hemolytic parameters and renal function. Genetic testing later confirmed the presence of a pathogenic CFH mutation. This case highlights the role of genetic testing in all cases of suspected aHUS. Results A previously healthy 82-year-old female with normal baseline renal function presented to hospital with lower gastrointestinal bleeding and developed microangiopathic hemolytic anemia and rapidly worsening renal function requiring dialysis initiation. A renal biopsy demonstrated features compatible with thrombotic microangiopathy (Fig. 1). An extensive TMA workup including infectious panels, autoimmune serologies, malignancy screening, and ADAMTS levels returned normal. Eculizumab approval was acquired on an expedited basis and she was started on treatment. Two months later, her renal function and hemolytic parameters improved to the point of dialysis discontinuation. Her Blueprint Genetics HUS panel later returned, showing a pathogenic heterozygous missense variant of CFH. In light of her positive CFH genetic variant, she has received approval for ongoing eculizumab treatment and her case will be reviewed by the Ministry of Health annually for ongoing medication renewal. Conclusion Although aHUS is a rare condition, it is associated with a poor prognosis, with estimates of progression to end stage renal disease or death ranging between 50 to 80%, respectively [1]. The median initial age of aHUS presentation is 35 years old, with infection, pregnancy, autoimmune disease, and malignancy considered common precipitating factors for this disease [2]. This is an unusual case of a patient with a pathogenic CFH mutation who developed her first presentation of aHUS at age 82 with no clear precipitating factor. This case highlights the importance of considering the diagnosis of aHUS in patients with TMA, and the utility of genetic testing in helping to guide treatment for those with suspected aHUS.
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) | 0,000 | 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) | 0,001 | 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 ».