title: Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1beta gene.
abstract: After renal transplantation for congenital cystic kidney disease of unknown origin, a 14-year-old boy, who was previously normoglycemic, had "steroid-induced" diabetes mellitus, which was treated with insulin. Transplant failure from chronic rejection and subsequent transplant nephrectomy allowed discontinuation of corticosteroids, the gradual withdrawal of insulin and normoglycemia. The recent description of renal cysts and diabetes (RCAD) syndrome and a strong paternal family history of early-onset diabetes mellitus prompted genetic screening of the hepatocyte nuclear factor-1beta gene. A novel heterozygous frameshift mutation in exon 1 was identified, adding to the 12 kindreds thus far described. This case highlights the unmasking of the hyperglycemic component of the RCAD syndrome in the immediate postoperative period after renal transplantation and emphasizes the pleiotropic manifestations of this important genetic kidney disease.
authors.affiliation: Nephro-Urology Unit, Institute of Child Health, University College London and the Department of Diabetes and Vascular Medicine, School of Postgraduate Medicine and Health Sciences, University of Exeter, England. s.waller@ich.ucl.ac.uk
authors.forename: Simon C
authors.initials: SC
authors.lastname: Waller
authors.forename: Lesley
authors.initials: L
authors.lastname: Rees
authors.forename: Adrian S
authors.initials: AS
authors.lastname: Woolf
authors.forename: Sian
authors.initials: S
authors.lastname: Ellard
authors.forename: Ewan R
authors.initials: ER
authors.lastname: Pearson
authors.forename: Andrew T
authors.initials: AT
authors.lastname: Hattersley
authors.forename: Coralie
authors.initials: C
authors.lastname: Bingham
mesh_terms: D000293:Adolescent; D003560:Cysts / Q000097:blood / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D004247:DNA / Q000097:blood; D004252:DNA Mutational Analysis / Q000379:methods; D004268:DNA-Binding Proteins / Q000235:genetics*; D003920:Diabetes Mellitus / Q000097:blood / Q000235:genetics; D005091:Exons / Q000235:genetics; D016368:Frameshift Mutation / Q000235:genetics*; D006580:Genetic Carrier Screening; D051539:Hepatocyte Nuclear Factor 1-beta; D006801:Humans; D006943:Hyperglycemia / Q000097:blood / Q000235:genetics*; D007674:Kidney Diseases / Q000097:blood / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D016030:Kidney Transplantation / Q000009:adverse effects*; D007962:Leukocytes / Q000737:chemistry; D008297:Male; D011296:Prenatal Diagnosis / Q000379:methods; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D014463:Ultrasonography
chemical_list: D004268:DNA-Binding Proteins; C496495:HNF1B protein, human; D014157:Transcription Factors; D051539:Hepatocyte Nuclear Factor 1-beta; D004247:DNA