NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis

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Monteiro, Eduardo Jose Bellotto
Pereira, Alexandre C.
Pereira, Aparecido B.
Krieger, Jose E.
Mastroianni-Kirsztajn, Gianna
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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.
Journal Of Nephrology. Milan: Wichtig Editore, v. 19, n. 3, p. 366-371, 2006.