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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dc.contributor.authorUgurlu, Yueksel
dc.contributor.authorGulhan, Bora
dc.contributor.authorDursun, Ismail
dc.contributor.authorNalcacioglu, Huelya
dc.contributor.authorKaya Aksoy, Guelsah
dc.contributor.authorCanpolat, Nur
dc.contributor.authorBayazit, Aysun
dc.date.accessioned2025-05-29T02:58:07Z
dc.date.available2025-05-29T02:58:07Z
dc.date.issued2025
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractBackgroundManaging 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.MethodsThis 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.ResultsThe 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).ConclusionsNephrectomy reduces albumin infusions, infections, and hospitalizations, suggesting it may be a beneficial treatment for selected CNS patients with NPHS1 mutations.Graphical abstractA higher resolution version of the Graphical abstract is available as Supplementary information
dc.description.sponsorshipHacettepe University
dc.description.sponsorshipThis study was conducted as part of the first author's pediatrics thesis.
dc.identifier.doi10.1007/s00467-025-06774-6
dc.identifier.issn0931-041X
dc.identifier.issn1432-198X
dc.identifier.pmid40266336
dc.identifier.scopus2-s2.0-105003269777
dc.identifier.scopusqualityQ1
dc.identifier.urihttps://doi.org/10.1007/s00467-025-06774-6
dc.identifier.urihttps://hdl.handle.net/20.500.12428/30283
dc.identifier.wosWOS:001472846900001
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringer
dc.relation.ispartofPediatric Nephrology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WOS_20250529
dc.subjectCongenital nephrotic syndrome
dc.subjectNPHS1 mutation
dc.subjectNephrin
dc.subjectNephrectomy
dc.titleThe clinical characteristics of patients with congenital nephrotic syndrome secondary to NPHS1 mutation: Is nephrectomy still a therapeutic option for selected cases?
dc.typeArticle

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