Kidney transplantation in a child with Pierson syndrome

Pediatric Transplantation
Sanem GulerMichele Molinari

Abstract

Congenital nephrotic syndrome is commonly associated with mutations in genes that encode podocyte and slit diaphragm proteins or the structural and regulatory proteins of the GBM. These mutations lead to the formation of dysfunctional proteins, which account for the resistance of the renal manifestations to conventional treatment methods. Consequently, patients become renal replacement therapy dependent. Mutation of the LAMB2 gene is associated with Pierson syndrome, which is an autosomal recessive disorder characterized by congenital nephrotic syndrome and ocular abnormalities. In this report, a 2-year-old male patient who was diagnosed with Pierson syndrome is presented. He had bilateral microcoria and developmental delay in addition to nephrotic syndrome. His renal function deteriorated rapidly, and he underwent a deceased donor kidney transplantation. He showed dramatic improvement after kidney transplantation; in addition to having good renal function, he started to catch up to his peers in terms of growth. Pierson syndrome should be considered during the diagnostic investigations of children with renal manifestations and ocular abnormalities. Children with Pierson syndrome must be evaluated in terms of kidney transplantat...Continue Reading

References

Jul 26, 2006·Pediatrics·Rene' VanDeVoordeJens Goebel
Mar 21, 2007·Pediatrics·Bernward G HinkesUNKNOWN Arbeitsgemeinschaft für Paediatrische Nephrologie Study Group
Oct 31, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Hannu Jalanko
Oct 29, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Dan ZhaoYan Zhang
Sep 30, 2010·Nature Reviews. Nephrology·Patrick Niaudet
Apr 1, 2014·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Christer Holmberg, Hannu Jalanko
Feb 28, 2015·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Onur CilFatih Ozaltin
May 1, 2016·European Journal of Medical Research·Boutaina ZemraniHassib Chehade

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