Karle, S., Uetz, B., Ronner, V., Glaeser, L., Hildebrandt, F. and Fuchshuber, A., Members of the APN Study Group (2002) Novel Mutations in NPHS2 Are Detected in Familial as Well as Sporadic Steroid Resistant Nephritic Syndrome. Journal of the American Society of Nephrology, 13, 388-393.

has been cited by the following article:

• TITLE: NPHS2 Gene Mutation and Polymorphisms in Indonesian Children with Steroid-Resistant Nephrotic Syndrome

  AUTHORS: Dedi Rachmadi, Ani Melani, Leo Monnens

  KEYWORDS: Steroid-Resistant Nephrotic Syndrome, NPHS2 Gene, Polymorphism

  JOURNAL NAME: Open Journal of Pediatrics, Vol.5 No.1, February 10, 2015

  ABSTRACT: Objective:Although several NPHS2 gene mutations and polymorphisms were described andassociated with clinical manifestation of steroid-resistant nephrotic syndrome (SRNS),theoccurrence of these genetic abnormalities or variants appearedto be influenced by race and ethnic group. We have investigatedprobable mutations and variants in NPHS2 gene involved in SRNS and their association with clinical manifestations. Methods: We examined 28 childrenwith primary SRNSwhovisitedthe pediatric nephrology division of 10 teaching hospitals in Indonesia. Molecular genetic studies of the NPHS2 gene wereconducted through screeningsfor the exon 1, exon 2, and exon 8. The mutational analysis of NPHS2 was performed by DNA sequencing.Fisher’s Exact Test was used to determinethecorrelationbetweenNPHS2 polymorphisms and clinical manifestations.Results:Sevenfemales (25%) and 21 males (75%)participated in the study.The mean age of the subjects with 95% CI is: 7.6 (6.1 - 9.0) years while the mean age at onset of disease with 95% CI is: 5.4 (3.9 - 7.0) years. Sixteen patients (57.14%) were younger than 6 years at the onset of disease. Seventeen (60.7%) subjects had normal eGFR, while 11 (39.3%) had chronic renal insufficiency. The mean eGFR of the subjects with 95% CI is: 111.4 (87.7 - 135.1) ml/min/1.73 m2. The mean systolic blood pressure with 95% CI is: 117.0 (108.9 - 125.1) mmHg and the mean diastolic blood pressure with 95% CI is: 77.0 (70.3 - 83.7) mmHg.We identified 6 NPHS2polymorphisms,i.e.g.-52G>T, c.101A>G, g.-117C>T, c.288C>T, c.954C>T, and c.1038A>G and no mutationwas found. There wasno correlationbetweenNPHS2 polymorphisms and clinical manifestations (p > 0.05). Conclusion: Theresults demonstrate no mutation of NPHS2 gene, and the 6 NPHS2 gene polymorphisms that were identified have no correlation with the clinical manifestation in Indonesian children with SRNS.