title: Childhood onset diabetes posttransplant in a girl with TCF2 mutation.
abstract: Heterozygous mutations of TCF2 (transcription factor 2) have been associated with maturity onset diabetes of the young, renal malformations, hyperuricemia, and occasionally internal genital malformations in female. We report a female patient with bilateral renal hypodysplasia and de novo heterozygous TCF2 gene mutation. At the age of 9 yr, she developed transient ketoacidosis immediately posttransplant, temporarily requiring insulin. During glucocorticoid tapering, impaired glucose tolerance persisted and overt insulin-dependent diabetes mellitus developed 1 yr later. Pathogenic factors which might have played a role in the acceleration of diabetes were (i) switch from cyclosporine to tacrolimus, (ii) weight excess, and (iii) cytomegalovirus infection. TCF2 analysis might, therefore, be of interest in patients with congenital abnormalities of the kidney and the urinary tract in order to improve posttransplant management in terms of steroid and tacrolimus exposure.
authors.affiliation: Department of Pediatric Nephrology, Armand-Trousseau Hospital, AP-HP, Paris, France; University Pierre et Marie Curie (UPMC), Paris, 6, France.
authors.forename: Elena
authors.initials: E
authors.lastname: Tudorache
authors.forename: Anne-Laure
authors.initials: AL
authors.lastname: Sellier-Leclerc
authors.forename: Marion
authors.initials: M
authors.lastname: Lenoir
authors.forename: Nadia
authors.initials: N
authors.lastname: Tubiana-Rufi
authors.forename: Nadia
authors.initials: N
authors.lastname: Toubiana
authors.forename: Albert
authors.initials: A
authors.lastname: Bensman
authors.forename: Christine
authors.initials: C
authors.lastname: Bellanne-Chantelot
authors.forename: Tim
authors.initials: T
authors.lastname: Ulinski
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000601:surgery; D002648:Child; D003924:Diabetes Mellitus, Type 2 / Q000150:complications / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D005260:Female; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000002:abnormalities / Q000601:surgery; D016030:Kidney Transplantation / Q000009:adverse effects*; D009154:Mutation / Q000502:physiology; D019172:Transplantation Conditioning / Q000009:adverse effects; D014551:Urinary Tract / Q000002:abnormalities / Q000601:surgery; D014564:Urogenital Abnormalities / Q000150:complications / Q000235:genetics / Q000601:surgery
chemical_list: C496495:HNF1B protein, human; D051539:Hepatocyte Nuclear Factor 1-beta