title: New-onset diabetes after renal transplantation in a patient with a novel HNF1B mutation.
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 develop NODAT and show extra-renal symptoms.
authors.affiliation: Department of Pediatric Nephrology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.
authors.forename: Shoichiro
authors.initials: S
authors.lastname: Kanda
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Naoya
authors.initials: N
authors.lastname: Morisada
authors.affiliation: Department of Pediatric Nephrology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.
authors.forename: Naoto
authors.initials: N
authors.lastname: Kaneko
authors.affiliation: Department of Pediatric Nephrology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.
authors.forename: Tomoo
authors.initials: T
authors.lastname: Yabuuchi
authors.affiliation: Department of Pediatric Nephrology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.
authors.forename: Yuri
authors.initials: Y
authors.lastname: Nawashiro
authors.affiliation: Department of Pediatric Nephrology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.
authors.forename: Norimasa
authors.initials: N
authors.lastname: Tada
authors.affiliation: Department of Pediatric Nephrology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.
authors.forename: Kei
authors.initials: K
authors.lastname: Nishiyama
authors.affiliation: Department of Pediatric Nephrology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.
authors.forename: Takayuki
authors.initials: T
authors.lastname: Miyai
authors.affiliation: Department of Pediatric Nephrology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Sugawara
authors.affiliation: Department of Pediatric Nephrology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.
authors.forename: Kiyonobu
authors.initials: K
authors.lastname: Ishizuka
authors.affiliation: Department of Pediatric Nephrology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Chikamoto
authors.affiliation: Department of Pediatric Nephrology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Akioka
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Kazumoto
authors.initials: K
authors.lastname: Iijima
authors.affiliation: Department of Pediatric Nephrology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.
authors.forename: Motoshi
authors.initials: M
authors.lastname: Hattori
mesh_terms: D000293:Adolescent; D000328:Adult; D017398:Alternative Splicing; D002648:Child; D002675:Child, Preschool; D003920:Diabetes Mellitus / Q000235:genetics*; D005260:Female; D006085:Graft Survival; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000503:physiopathology*; D007674:Kidney Diseases / Q000503:physiopathology; D016030:Kidney Transplantation; D008297:Male; D009154:Mutation; D010372:Pediatrics / Q000379:methods; D051437:Renal Insufficiency / Q000150:complications / Q000235:genetics / Q000601:surgery*; D017422:Sequence Analysis, DNA; D013256:Steroids / Q000627:therapeutic use; D000637:Transaminases / Q000097:blood; D014564:Urogenital Abnormalities / Q000150:complications / Q000235:genetics; D014718:Vesico-Ureteral Reflux / Q000150:complications / Q000235:genetics
chemical_list: C496495:HNF1B protein, human; D013256:Steroids; D051539:Hepatocyte Nuclear Factor 1-beta; D000637:Transaminases
keywords: HNF1B; NODAT; complications; pediatric kidney transplantation