Frequency of Ectopic Calcifications Among Patients With Hypophosphatasia in the Global HPP Registry
Notice bibliographique
Résumé
Abstract Ectopic calcifications have been observed in patients with hypophosphatasia (HPP)—a rare, inherited, metabolic disorder characterized by reduced enzymatic activity of tissue nonspecific alkaline phosphatase. The natural history of these calcifications is poorly understood. Using data from the Global HPP Registry, a cross-sectional, observational analysis was conducted to better understand the prevalence of nephrocalcinosis and eye calcifications in patients with HPP in the absence of treatment with the enzyme replacement therapy, asfotase alfa. The association between hypercalcemia (serum calcium ≤10.3 mg/dL [normal]; 10.4–11.9 mg/dL [mild hypercalcemia]; ≥12.0 mg/dL [moderate to severe hypercalcemia]) and ectopic calcification was also evaluated. Of the patients in the study population with renal ultrasound data (n=327), 11.0% had nephrocalcinosis; no patients had severe nephrocalcinosis. In children (aged <18 years; n=174), 13.2% had nephrocalcinosis, and the median age at the first diagnosis of nephrocalcinosis was 4 years (range: 0–17 years). In adults (aged ≥18 years; n=153), 8.5% had nephrocalcinosis, and the median age at the first diagnosis of nephrocalcinosis was 52 years (range: 27–72 years). Data on serum calcium levels were available for 318 patients with renal ultrasounds. Of these patients, 73 patients (23.0%) had a history of hypercalcemia, of whom 10 (13.7%; children: n=9; adults: n=1) also had nephrocalcinosis. In patients with moderate to severe hypercalcemia (n=7), 6 patients (85.7%) were diagnosed with nephrocalcinosis; the majority (68.8%) of patients with nephrocalcinosis did not have a documented history of hypercalcemia. Of the patients who had ophthalmological assessments (n=137), 6 patients (4.4%) had eye calcifications; no patients had moderate or severe eye calcifications. The median age at the first diagnosis of eye calcifications was 16 years (range: 15–16 years) in children and 51 years (range: 30–57 years) in adults. Data on serum calcium levels were available for 80 patients with ophthalmological assessments. Coexistence of eye calcifications and reported hypercalcemia was observed in only 3 of these patients, all of whom had mild hypercalcemia; the remaining 3 patients with eye calcifications exhibited no hypercalcemia. No patients in this analysis presented with both nephrocalcinosis and eye calcifications. These results indicate that the prevalence of ectopic calcifications in patients with HPP is low during the natural course of the disease, with nephrocalcinosis being more common than eye calcifications. In addition, the higher prevalence of nephrocalcinosis in patients with moderate to severe hypercalcemia suggests that very high serum calcium may be a risk factor in some patients. Future studies are needed to assess the impact of treatment with asfotase alfa on ectopic calcifications in patients with HPP.
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 | 0,001 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,001 |
| 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 ».