The clinical characteristics of patients with congenital nephrotic syndrome secondary to NPHS1 mutation: Is nephrectomy still a therapeutic option for selected cases?
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Le résumé fourni par la source
BACKGROUND: Managing congenital nephrotic syndrome (CNS) remains a clinical challenge. While albumin infusions and nephrectomy have been long-standing treatments, a conservative approach is increasingly favored. This study aimed to compare clinical outcomes between nephrectomy (Nx) and non-Nx in patients with bi-allelic NPHS1 mutations. METHODS: This retrospective cohort study included 29 pediatric CNS patients (15 female, 14 male) with confirmed NPHS1 mutations. Clinical parameters including albumin infusion requirements, infections, hospitalizations, growth, and survival rates were analyzed in the Nx and non-Nx groups. RESULTS: The median age at the time CNS was diagnosed was 29 days (IQR: 11-62 days). In all, 24 patients (82.8%) had homozygous NPHS1 mutations and 5 (17.2%) had compound heterozygous NPHS1 mutations. None of the patients had Fin-major mutation (i.e., p. Leu41 Aspfs*50). Unilateral/bilateral nephrectomy was performed in 16 patients. At 12 months post-nephrectomy the number of albumin infusions required, infections, and hospitalizations decreased significantly in the Nx group, as compared to the pre-nephrectomy period (p = 0.001, p = 0.027, and p = 0.004, respectively). Among the 13 (44.8%) patients in the non-Nx group, at 12 months after CNS was diagnosed the number of serum albumin infusions required significantly decreased (p = 0.007); however, the number of infections and hospitalization did not differ significantly (p = 0.589 and p = 0.5, respectively). Receiver operating characteristic (ROC) analysis showed that requiring albumin infusions ≥ 14 days/month predicted the decision to perform nephrectomy with 68% accuracy (73% sensitivity and 62% specificity). CONCLUSIONS: Nephrectomy reduces albumin infusions, infections, and hospitalizations, suggesting it may be a beneficial treatment for selected CNS patients with NPHS1 mutations.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- The clinical characteristics of patients with congenital nephrotic syndrome secondary to NPHS1 mutation: Is nephrectomy still a therapeutic option for selected cases?
- Date Crossref
- 23/04/2025
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Hacettepe University Department of Preventive Oncology pays non établi dans la noticeUniversité ou école supérieure
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Erciyes University pays non établi dans la noticeUniversité ou école supérieure
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Ondokuz Mayıs University pays non établi dans la noticeUniversité ou école supérieure
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Akdeniz University pays non établi dans la noticeUniversité ou école supérieure
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Istanbul University-Cerrahpaşa Department of Pediatric Nephrology pays non établi dans la noticeUniversité ou école supérieure
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Cukurova University pays non établi dans la noticeUniversité ou école supérieure
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Ankara University pays non établi dans la noticeUniversité ou école supérieure
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Çanakkale Onsekiz Mart Üniversitesi pays non établi dans la noticeUniversité ou école supérieure
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Başkent University Department of Pediatric Nephrology pays non établi dans la noticeUniversité ou école supérieure
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Hacettepe University Hospital pays non établi dans la noticeÉtablissement de santé
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Faculty of Medicine Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
Department of Preventive Oncology — Hacettepe University, Erciyes University et Ondokuz Mayıs University, avec 8 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.