The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.
Patients with Mutations in NPHS2 (Podocin) Do Not Respond to Standard Steroid Treatment of Nephrotic Syndrome
Open accessAbstract
Nephrotic syndrome (NS) represents the association of proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Steroid-resistant NS (SRNS) is defined by primary resistance to standard steroid therapy. It remains one of the most intractable causes of ESRD in the first two decades of life. Mutations in the NPHS2 gene represent a frequent cause of SRNS, occurring in approximately 20 to 30% of sporadic cases of SRNS. On the basis of a very small number of patients, it was suspected that children with homozygous or compound heterozygous mutations in NPHS2 might exhibit primary steroid resistance and a decreased risk of FSGS recurrence after kidney transplantation. To test this hypothesis, NPHS2 mutational analysis was performed with direct sequencing for 190 patients with SRNS from 165 different families and, as a control sample, 124 patients with steroid-sensitive NS from 120 families. Homozygous or compound heterozygous mutations in NPHS2 were detected for 43 of 165 SRNS families (26%). Conversely, no homozygous or compound heterozygous mutations in NPHS2 were observed for the 120 steroid-sensitive NS families. Recurrence of FSGS in a renal transplant was noted for seven of 20 patients with SRNS (35%) without NPHS2 mutations, whereas it occurred for only two of 24 patients with SRNS (8%) with homozygous or compound heterozygous mutations in NPHS2. None of 29 patients with homozygous or compound heterozygous mutations in NPHS2 who were treated with cyclosporine A or cyclophosphamide demonstrated complete remission of NS. It was concluded that patients with SRNS with homozygous or compound heterozygous mutations in NPHS2 do not respond to standard steroid treatment and have a reduced risk for recurrence of FSGS in a renal transplant. Because these findings might affect the treatment plan for childhood SRNS, it might be advisable to perform mutational analysis of NPHS2, if the patient consents, in parallel with the start of the first course of standard steroid therapy.
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Self-citationMutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
Kaplan, J. M., H Kim, S., North, K. N., Rennke, H., A Correia, L., Tong, H.-Q., Mathis, B. J., Rodríguez-Pérez, J.-C., Allen, P. G., Beggs, A. H., et al. (2000) · Nature Genetics · doi:10.1038/73456 · Cited by 1,235
PATHOGENESIS OF LIPOID NEPHROSIS: A DISORDER OF T-CELL FUNCTION
Shalhoub, R. (1974) · The Lancet · doi:10.1016/s0140-6736(74)91880-7 · Cited by 1,192
Koziell, A. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.4.379 · Cited by 306
Getting a foothold in nephrotic syndrome
Somlo, S., & Mundel, P. (2000) · Nature Genetics · doi:10.1038/74139 · Cited by 271
Novel Mutations in NPHS2 Detected in Both Familial and Sporadic Steroid-Resistant Nephrotic Syndrome
Karle, S. M., Uetz, B., Ronner, V., Glaeser, L., Hildebrandt, F., & Fuchshuber, A. (2002) · Journal of the American Society of Nephrology · doi:10.1681/asn.v132388 · Cited by 248
Self-citationOtto, E., Hoefele, J., Ruf, R., Mueller, A. M., Hiller, K. S., Wolf, M. T. F., Schuermann, M. J., Becker, A., Birkenhäger, R., Sudbrak, R., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/344395 · Cited by 208
Self-citationBroadening the Spectrum of Diseases Related to Podocin Mutations
Caridi, G., Bertelli, R., Di Duca, M., Dagnino, M., Emma, F., Onetti Muda, A., Scolari, F., Miglietti, N., Mazzucco, G., Murer, L., et al. (2003) · Journal of the American Society of Nephrology · doi:10.1097/01.asn.0000060578.79050.e0 · Cited by 183
Caridi, G., Bertelli, R., Carrea, A., Di Duca, M., Catarsi, P., Artero, M., Carraro, M., Zennaro, C., Candiano, G., Musante, L., et al. (2001) · Journal of the American Society of Nephrology · doi:10.1681/asn.v12122742 · Cited by 180
Cited by
APOL1 Genetic Variants in Focal Segmental Glomerulosclerosis and HIV-Associated Nephropathy
Kopp, J. B., Nelson, G. W., Sampath, K., Johnson, R. C., Genovese, G., An, P., Friedman, D., Briggs, W., Dart, R., Korbet, S., et al. (2011) · Journal of the American Society of Nephrology · doi:10.1681/asn.2011040388 · Cited by 855
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
Sadowski, C. E., Lovric, S., Ashraf, S., Pabst, W. L., Gee, H. Y., Kohl, S., Engelmann, S., Vega-Warner, V., Fang, H., Halbritter, J., et al. (2015) · Journal of the American Society of Nephrology · doi:10.1681/asn.2014050489 · Cited by 651
Self-citationHinkes, B. G., Mucha, B., Vlangos, C. N., Gbadegesin, R., Liu, J., Hasselbacher, K., Hangan, D., Ozaltin, F., Zenker, M., Hildebrandt, F., et al. (2007) · Pediatrics · doi:10.1542/peds.2006-2164 · Cited by 444
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Metadata
- Authors
- Ruf, R. G., Lichtenberger, A., Karle, S. M., Haas, J. P., Anacleto, F. E., Schultheiss, M., Zalewski, I., Imm, A., Ruf, E.-M., Mucha, B., Bagga, A., Neuhaus, T., Fuchshuber, A., Bakkaloglu, A., & Hildebrandt, F.
- Venue
- Journal of the American Society of Nephrology
- Published
- 2004-03
- Volume
- 15
- Issue
- 3
- Pages
- 722-732
- ISSN
- 1046-6673 (ISSN-L)
- OpenAlex
- W2126226666
- Cited by
- 417
- References
- 21
- FWCI
- 19.19
- Type
- journal article
- Language
- en
- Open access
- green
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- Ruf, R. G., Lichtenberger, A., Karle, S. M., Haas, J. P., Anacleto, F. E., Schultheiss, M., Zalewski, I., Imm, A., Ruf, E.-M., Mucha, B., Bagga, A., Neuhaus, T., Fuchshuber, A., Bakkaloglu, A., & Hildebrandt, F. (2004). Patients with Mutations in NPHS2 (Podocin) Do Not Respond to Standard Steroid Treatment of Nephrotic Syndrome. Journal of the American Society of Nephrology. https://doi.org/10.1097/01.asn.0000113552.59155.72
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