title: Growth hormone therapy-related hyperglycaemia in a boy with renal cystic hypodysplasia and a new mutation of the HNF1 beta gene.
abstract: We provide a molecular and pathophysiological characterization of an 11-year-old male patient, with a diagnosis of renal hypodysplasia, cysts and chronic renal failure. Although previously normoglycaemic and with a negative familial history for diabetes mellitus, he developed fasting hyperglycaemia within 12 months of the start of treatment with recombinant human growth hormone (rhGH). Direct sequencing of the HNF1 beta gene revealed a de novo heterozygous mutation in exon 2, c.535delC [Pro118LeuX7]+[=]. The appearance of fasting hyperglycaemia following rhGH treatment in children with renal cystic hypodysplasia suggests that investigation of the HNF1 beta gene is warranted, even when familial history is negative for diabetes. This is particularly important in regard to genetic counselling.
authors.affiliation: Medical Genetics Section, Department of Clinical Pathophysiology, University of Florence, Italy.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Giglio
authors.forename: Elisa
authors.initials: E
authors.lastname: Contini
authors.forename: Sonia
authors.initials: S
authors.lastname: Toni
authors.forename: Ivana
authors.initials: I
authors.lastname: Pela
mesh_terms: D002648:Child; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D019382:Human Growth Hormone / Q000009:adverse effects*; D006801:Humans; D006943:Hyperglycemia / Q000139:chemically induced* / Q000235:genetics; D052177:Kidney Diseases, Cystic / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D007676:Kidney Failure, Chronic / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D011379:Prognosis; D011994:Recombinant Proteins / Q000009:adverse effects
chemical_list: C496495:HNF1B protein, human; D011994:Recombinant Proteins; D019382:Human Growth Hormone; D051539:Hepatocyte Nuclear Factor 1-beta