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

• DOI: 10.1111/petr.12690
• Publication Date: 2016-02-22T05:10:12Z
• Authors: Shoichiro Kanda; Naoya Morisada; Naoto Kaneko; Tomoo Yabuuchi; Yuri Nawashiro; Norimasa Tada; Kei Nishiyama; Takayuki Miyai; Noriko Sugawara; Kiyonobu Ishizuka; Hiroko Chikamoto; Yuko Akioka; Kazumoto Iijima; Motoshi Hattori
• Keywords: Adult; Male; Adolescent; Graft Survival; Sequence Analysis, DNA; Kidney; Kidney Transplantation; Pediatrics; 3. Good health; Alternative Splicing; Child, Preschool; Mutation; Diabetes Mellitus; Humans; Female; Kidney Diseases; Steroids; Renal Insufficiency; Child; Transaminases; Hepatocyte Nuclear Factor 1-beta

Abstract CAKUT are the most frequent causes of ESRD in children. Mutations gene encoding HNF 1B , a transcription factor involved organ development and maintenance, cause multisystem disorder that includes diabetes, liver dysfunction. Here, we describe case patient with renal hypodysplasia who developed NODAT presenting The was initially thought to be steroid FK related. However, based on patient's clinical features, including recurrent elevations transaminase, screening for an mutation performed. Direct sequencing identified novel splicing designated c.344 + 2T>C. Because is leading children mutations can both may account portion cases pediatric patients have undergone kidney transplantation. serious major complication solid transplantation associated reduced graft survival. Therefore, appropriate management transplantation, should considered transplants caused by develop show extra‐renal symptoms.