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New‐onset diabetes after renal transplantation in a patient with a novel HNF 1B mutation
Author(s) -
Kanda Shoichiro,
Morisada Naoya,
Kaneko Naoto,
Yabuuchi Tomoo,
Nawashiro Yuri,
Tada Norimasa,
Nishiyama Kei,
Miyai Takayuki,
Sugawara Noriko,
Ishizuka Kiyonobu,
Chikamoto Hiroko,
Akioka Yuko,
Iijima Kazumoto,
Hattori Motoshi
Publication year - 2016
Publication title -
pediatric transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.457
H-Index - 69
eISSN - 1399-3046
pISSN - 1397-3142
DOI - 10.1111/petr.12690
Subject(s) - medicine , diabetes mellitus , transplantation , kidney , kidney transplantation , liver transplantation , mutation , endocrinology , gene , genetics , biology
Abstract CAKUT are the most frequent causes of ESRD in children. Mutations in the gene encoding HNF 1B , 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 HNF 1B mutation was performed. Direct sequencing identified a novel splicing mutation of HNF 1B , designated c.344 + 2T>C. Because CAKUT is the leading cause of ESRD in children and HNF 1B mutations can cause both renal hypodysplasia and diabetes, HNF 1B 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 HNF 1B mutations should be considered in pediatric patients with transplants caused by CAKUT who develop NODAT and show extra‐renal symptoms.