Clinical features and mutational survey of NPHS2 (podocin) in Japanese children with focal segmental glomerulosclerosis who underwent renal transplantation

Pediatric Transplantation
Takeki FurueTakashi Sakano

Abstract

Recurrent FSGS is a major challenge in the field of nephrology. To clarify the role of NPHS2 defects in the pathogenesis of FSGS recurrence, we sequenced all eight exons of NPHS2 in 11 Japanese pediatric FSGS patients with or without post-transplant recurrence. All patients had biopsy-proven primary FSGS, had no family history of renal diseases or consanguinity, were steroid-resistant, and received living-related renal transplantation. The mean age at onset was 5.0 +/- 3.1 yr and mean age at renal transplantation was 10.4 +/- 4.1 yr. Mutational analysis of NPHS2 was performed using polymerase chain reaction and direct sequencing. We found a synonymous T/C polymorphism at alanine 318 (GCC to GCT) in seven of 11 patients but no other causative NPHS2 mutations. FSGS recurred immediately after transplant in seven patients, while the remaining four patients had no recurrence for 3.2-5.8 yr. There were no differences between recurrent and non-recurrent patients in the onset age and the interval from onset to ESRD. In conclusion, we detected no causative NPHS2 mutations in Japanese pediatric FSGS patients with or without post-transplant recurrence. Further studies on the involvement of other genes are required to better understand rec...Continue Reading

References

Apr 1, 1992·The American Journal of Medicine·M ArteroF Vincenti
Jan 1, 1990·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·P SenggutuvanG Koffman
Nov 25, 1997·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·M HattoriK Ito
Jun 30, 1998·Journal of the American Society of Nephrology : JASN·S M Korbet
Mar 10, 1999·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·M HattoriM Khono
Mar 16, 2001·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·H Colakovski, D L Lorber
Jun 26, 2001·Journal of the American Society of Nephrology : JASN·Motoshi HattoriYasushi Koitabashi
Mar 6, 2002·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Prasad Devarajan, Adrian Spitzer
Dec 5, 2002·The Journal of Clinical Investigation·Hiroyasu TsukaguchiMartin R Pollak
Apr 11, 2003·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Kyoko MaruyamaNorishige Yoshikawa
Apr 22, 2003·Seminars in Nephrology·Virginia J SavinMukut Sharma
May 31, 2003·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Roberta BertelliGian Marco Ghiggeri
Jul 5, 2003·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Hannu Jalanko
Dec 5, 2003·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Motoshi HattoriKatsumi Ito
Feb 24, 2004·Journal of the American Society of Nephrology : JASN·Rainer G RufUNKNOWN Arbeitsgemeinschaft Für Pädiatrische Nephrologie Study Group
Jul 22, 2004·Pediatric Transplantation·Michelle A Baum
Mar 17, 2005·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Zihua YuJiyun Yang
Apr 9, 2005·Pediatric Research·Gianluca CaridiGian Marco Ghiggeri
May 13, 2005·American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons·Flavio Vincenti, Gian Marco Ghiggeri
Jul 1, 2006·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Z Birsin OzçakarFatoş Yalçinkaya
Sep 14, 2006·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Akiko KitamuraToshio Doi

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Citations

Apr 8, 2014·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Yutaka HaritaMotoshi Hattori
Sep 22, 2009·American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons·B I FreedmanA M Reeves-Daniel
Jun 19, 2008·American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons·M HattoriH Tsukaguchi

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