NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis

NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis

Author Monteiro, Eduardo Jose Bellotto Google Scholar
Pereira, Alexandre C. Google Scholar
Pereira, Aparecido B. Google Scholar
Krieger, Jose E. Google Scholar
Mastroianni-Kirsztajn, Gianna Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
Abstract Background. Mutations in the NPHS2 gene encoding the protein podocin have recently been found in a recessive form of steroid-resistant nephrotic syndrome. Focal segmental glomerulosclerosis (FSGS) was the histologic diagnosis in many of the patients harboring these mutations. FSGS is a heterogeneous glomerular lesion with diverse origins and outcomes. Although mutational analysis in children permits the identification of an unresponsive group before initiating treatment, there is not much information on adult-onset patients with FSGS.Methods: We performed NPHS2 gene mutational analysis in 39 adult Brazilian patients with primary FSGS, and evaluated the clinical course of the disease and response to treatment; in addition, we performed urinary screening in 44 relatives of these patients.Results: In this group, only 1 patient (with familial FSGS) had a mutation in the NPHS2 gene with double heterozygosity. The absence of mutations in all other patients evaluated suggests its rarity in sporadic cases of adult-onset (steroid sensitive or resistant) FSGS in our population.Conclusions: Our results suggest that the analysis of the NPHS2 gene mutation is not indicated as a routine diagnostic procedure in our population for adult-onset patients with FSGS.
Keywords NPHS2
focal segmental glomerulosclerosis
Language English
Date 2006-05-01
Published in Journal Of Nephrology. Milan: Wichtig Editore, v. 19, n. 3, p. 366-371, 2006.
ISSN 1121-8428 (Sherpa/Romeo, impact factor)
Publisher Wichtig Editore
Extent 366-371
Access rights Closed access
Type Article
Web of Science ID WOS:000239093700019

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