Familial Focal Segmental Glomerulosclerosis With Late-Onset Presentation and R229Q/R291W Podocin Mutations

Frontiers in Genetics
Michelle T P RiguettiGianna Mastroianni-Kirsztajn

Abstract

Pathogenic variants in different genes have been described as involved in the development of familial focal segmental glomerulosclerosis (FSGS). A more precise genotype-phenotype correlation would be helpful to better characterize the clinical and laboratorial manifestations of this disease, as well as response to treatment. We analyzed podocin (NPHS2) gene variants in 50 members of four generations of a family with late-onset presentation of glomerular disease. The NPHS2 gene variants R229Q and/or R291W were detected in several individuals, and the phenotype of FSGS with progressive loss of renal function was observed in all the family members carrying both mutations simultaneously. Patients manifested ongoing proteinuria over the years and progressive loss of renal function, which in three women culminated in renal replacement therapy by the 4th decade of life. In two affected patients with nephrotic syndrome, remission was not reached by the use of corticosteroids and other immunosuppressive drugs. The R229Q variant was pathogenic only when trans-associated with specific mutations, as the R291W variant in this family. Coexistence of the two NPHS2 variants R229Q and R291W in compound heterozygosis was a determinant of the FSG...Continue Reading

References

Nov 22, 2002·Journal of the American Society of Nephrology : JASN·Martin R Pollak
Feb 12, 2004·Kidney International·Alexandre C PereiraJosé E Krieger
Aug 21, 2007·Clinical Journal of the American Society of Nephrology : CJASN·Ning HeYork Pei
May 24, 2008·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Anna KöttgenW H Linda Kao
Oct 1, 2008·BMC Nephrology·Stephen J TonnaMartin R Pollak
Jul 28, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Maria Goretti PolitoGianna Mastroianni Kirsztajn
Aug 30, 2014·Advances in Chronic Kidney Disease·Martin R Pollak
Oct 29, 2014·Journal of the American Society of Nephrology : JASN·Carolin E SadowskiFriedhelm Hildebrandt
Dec 3, 2014·Nature Reviews. Nephrology·Agnes B Fogo
Apr 24, 2015·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Ilka KlaassenMarkus J Kemper
Nov 29, 2017·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Rebecca PrestonRachel Lennon
Apr 17, 2018·Biochimica Et Biophysica Acta. Molecular Basis of Disease·Pál StránerKálmán Tory
Sep 14, 2018·BMC Nephrology·Audrey UffingLeonardo V Riella

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Datasets Mentioned

BETA
GM-K.

Methods Mentioned

BETA
biopsy
PCR
electrophoresis

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