التفاصيل البيبلوغرافية
| العنوان: |
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome. |
| المؤلفون: |
Cil, Onur, Besbas, Nesrin, Duzova, Ali, Topaloglu, Rezan, Peco-Antić, Amira, Korkmaz, Emine, Ozaltin, Fatih |
| المصدر: |
Pediatric Nephrology; Aug2015, Vol. 30 Issue 8, p1279-1287, 9p |
| مصطلحات موضوعية: |
NEPHROTIC syndrome treatment, DNA analysis, AGE distribution, GENETIC mutation, RESEARCH funding, NEPHROTIC syndrome, SURVIVAL analysis (Biometry), PHENOTYPES, DATA analysis software, DESCRIPTIVE statistics, SEQUENCE analysis, GENOTYPES, CHILDREN, PROGNOSIS, GENETICS |
| مصطلحات جغرافية: |
TURKEY |
| مستخلص: |
Background: Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) are caused primarily by mutations in genes that encode structural and regulatory proteins of the glomerular filtration barrier. The aim of this study was to determine genotype-phenotype correlations and prognosis in patients with CNS and INS. Methods: NPHS1, NPHS2, LAMB2 and the eighth and ninth exons of WT1 were sequenced in 80 and 22 patients with CNS and INS, respectively. Genotype-phenotype correlations and survival were evaluated. Results: Causative mutations were identified in 64.7 % of patients, of which NPHS1 mutations were the most common (37.4 %). The mutation detection rate was twofold higher in CNS patients than in INS patients (72.5 vs. 36.2 %). The most commonly mutated gene in CNS patients was NPHS1 (46.3 %) versus NPHS2 (13.6 %) and WT1 (13.6 %) in INS patients. NPHS2 mutations, female patients with NPHS1 mutations, and NPHS1 mutations affecting the transmembrane or intracellular domains of nephrin were associated with longer survival. Conclusions: Based on our present findings, the likelihood of identification of a genetic cause decreases with increasing age at diagnosis. The underlying genetic abnormality should be identified as early as possible, as this knowledge will facilitate clinicians in their prognostic prediction and enable patients to receive appropriate genetic counseling. [ABSTRACT FROM AUTHOR] |
|
Copyright of Pediatric Nephrology is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Complementary Index |
