title: Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience.
abstract: The diabetes and renal phenotype of patients with maturity-onset diabetes of the young (MODY) on a transplantation waiting list is not known; neither is their outcome after pancreas (PT) and/or kidney transplantation (KT). Between 2002 and 2009, we screened 50 of 150 patients referred for kidney and pancreas transplantation to the Kremlin-Bicêtre center for HNF1B and HNF1A mutations if one or more of the following criteria was present (i) an atypical history of diabetes (ii) diabetes with at least one affected parent or two affected relatives, (iii) an absence of auto-antibodies at diagnosis (iv) a persistent secretion of fasting C peptide (v) a personal or a family history of renal cysts or dysplasia. Their phenotype and their outcome were analyzed. Four HNF1A (MODY3) and eight HNF1B mutations [renal cysts and diabetes (RCAD)] were identified. All MODY3 patients had diabetic nephropathy, but only 50% of RCAD patients. Four patients underwent a kidney and pancreas transplantation and two a kidney transplant alone. After 4.1 ± 1.1 years of follow-up, 83% of patients still have a functioning kidney and 75% a functioning pancreas. PT can be proposed with good results for MODY3 and RCAD patients.
authors.affiliation: Service de Néphrologie, Dialyse et Transplantation, IFRNT, Hôpital Bicêtre, Le Kremlin-Bicêtre, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Poitou
authors.forename: Hélène
authors.initials: H
authors.lastname: Francois
authors.forename: Christine
authors.initials: C
authors.lastname: Bellanne-Chantelot
authors.forename: Christian
authors.initials: C
authors.lastname: Noel
authors.forename: Antoine
authors.initials: A
authors.lastname: Jacquet
authors.forename: Séverine
authors.initials: S
authors.lastname: Clauin
authors.forename: Séverine
authors.initials: S
authors.lastname: Beaudreuil
authors.forename: Hani
authors.initials: H
authors.lastname: Damieri
authors.forename: Hadia
authors.initials: H
authors.lastname: Hebibi
authors.forename: Yacine
authors.initials: Y
authors.lastname: Hammoudi
authors.forename: Gérard
authors.initials: G
authors.lastname: Benoit
authors.forename: Bernard
authors.initials: B
authors.lastname: Charpentier
authors.forename: Antoine
authors.initials: A
authors.lastname: Durrbach
mesh_terms: D000328:Adult; D002493:Central Nervous System Diseases / Q000235:genetics / Q000601:surgery*; D015331:Cohort Studies; D003743:Dental Enamel / Q000002:abnormalities / Q000601:surgery; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics / Q000601:surgery*; D005260:Female; D005500:Follow-Up Studies; D006085:Graft Survival; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics; D006801:Humans; D016381:Islets of Langerhans Transplantation / Q000502:physiology; D052177:Kidney Diseases, Cystic / Q000235:genetics / Q000601:surgery*; D016030:Kidney Transplantation / Q000502:physiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016019:Survival Analysis
chemical_list: C496487:HNF1A protein, human; C496495:HNF1B protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D051539:Hepatocyte Nuclear Factor 1-beta