New-onset diabetes after renal transplantation in a patient with a novel HNF1B mutation

Pediatric Transplantation
Shoichiro KandaMotoshi Hattori

Abstract

CAKUT are the most frequent causes of ESRD in children. Mutations in the gene encoding HNF1B, a transcription factor involved in organ development and maintenance, cause a multisystem disorder that includes CAKUT, diabetes, and liver dysfunction. Here, we describe the case of a patient with renal hypodysplasia who developed NODAT presenting with liver dysfunction. The NODAT was initially thought to be steroid and FK related. However, based on the patient's clinical features, including renal hypodysplasia and recurrent elevations of transaminase, screening for an HNF1B mutation was performed. Direct sequencing identified a novel splicing mutation of HNF1B, designated c.344 + 2T>C. Because CAKUT is the leading cause of ESRD in children and HNF1B mutations can cause both renal hypodysplasia and diabetes, HNF1B mutations may account for a portion of the cases of NODAT in pediatric patients who have undergone kidney transplantation. NODAT is a serious and major complication of solid organ transplantation and is associated with reduced graft survival. Therefore, for the appropriate management of kidney transplantation, screening for HNF1B mutations should be considered in pediatric patients with transplants caused by CAKUT who develo...Continue Reading

References

Dec 3, 2002·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Simon C WallerCoralie Bingham
May 10, 2005·Clinical Transplantation·Alan WilkinsonMartin Wissing
Dec 24, 2005·Journal of the American Society of Nephrology : JASN·Tim UlinskiChristine Bellanné-Chantelot
Sep 15, 2006·Journal of the American Society of Nephrology : JASN·Stefanie WeberRemi Salomon
Jul 23, 2008·Diabetic Medicine : a Journal of the British Diabetic Association·I S HaldorsenP R Njølstad
Jul 30, 2009·Nature Reviews. Nephrology·Julien ZuberDanièle Dubois-Laforgue
Feb 16, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Makiko NakayamaKazumoto Iijima
May 26, 2010·Nature Reviews. Nephrology·Adnan Sharif, Keshwar Baboolal
Mar 8, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Rosemary ThomasAli G Gharavi
Jun 30, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Jérôme HarambatE Jane Tizard
Jan 21, 2012·Pediatric Diabetes·Elena TudoracheTim Ulinski
Dec 7, 2013·Journal of the American Society of Nephrology : JASN·Jennifer A McCaughanAlexander P Maxwell
Oct 1, 2012·Journal of Nephropathology·Jameela Kari
Jun 5, 2014·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Rouba GarroEric Felner
Jun 5, 2014·Kidney International·Stanislas FaguerDominique Chauveau
Dec 24, 2014·Nature Reviews. Nephrology·Rhian L ClissoldCoralie Bingham
Jan 18, 2015·Clinical and Experimental Nephrology·Motoshi HattoriTakashi Igarashi
Feb 26, 2015·Development·Matias G De VasCécile Haumaitre

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Citations

Jan 23, 2019·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Christine OkornStefanie Weber
Sep 7, 2019·Nature Reviews. Disease Primers·Olivier DevuystAnthony J Bleyer
May 28, 2019·Clinical and Experimental Nephrology·China NaganoKazumoto Iijima
Jul 28, 2020·Journal of Clinical Medicine·Seon Hee LimHae Il Cheong

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