Maturity onset diabetes of the young: Clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: A single center experience

Transplant International

Volumn 25, Issue 5, 2012, Pages 564-572

  Poitou, Caroline ^a   Francois, Hélène ^a,d   Bellanne Chantelot, Christine ^b   Noel, Christian ^c   Jacquet, Antoine ^a,d   Clauin, Séverine ^b   Beaudreuil, Séverine ^a,d   Damieri, Hani ^e   Hebibi, Hadia ^a   Hammoudi, Yacine ^a   Benoit, Gérard ^a   Charpentier, Bernard ^a,d   Durrbach, Antoine ^a,d  

^a BICÊTRE HOSPITAL   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d INSERM U1014   (France)

^e Hôpital Saint Cloud   (France)

Author keywords

maturity onset diabetes of the young; renal cysts; terminal renal failure; transplantation

Indexed keywords

AUTOANTIBODY; C PEPTIDE; CREATININE; GENOMIC DNA; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 1BETA;

ADULT; ARTICLE; BK VIRUS; CHOLECYSTITIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIET RESTRICTION; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GLOMERULUS FILTRATION RATE; GRAFT SURVIVAL; HUMAN; KIDNEY CYST; KIDNEY DISEASE; KIDNEY DYSPLASIA; KIDNEY FUNCTION; KIDNEY PANCREAS TRANSPLANTATION; MALE; MATURITY ONSET DIABETES MELLITUS; OUTCOME ASSESSMENT; PANCREAS FUNCTION; PHENOTYPE; PNEUMOCYSTOSIS; PRIORITY JOURNAL; PROTEIN SECRETION; UROLITHIASIS;

ADULT; CENTRAL NERVOUS SYSTEM DISEASES; COHORT STUDIES; DENTAL ENAMEL; DIABETES MELLITUS, TYPE 2; FEMALE; FOLLOW-UP STUDIES; GRAFT SURVIVAL; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; ISLETS OF LANGERHANS TRANSPLANTATION; KIDNEY DISEASES, CYSTIC; KIDNEY TRANSPLANTATION; MALE; MIDDLE AGED; MUTATION; SURVIVAL ANALYSIS;

EID: 84859715925     PISSN: 09340874     EISSN: 14322277     Source Type: Journal    
DOI: 10.1111/j.1432-2277.2012.01458.x     Document Type: Article

References (40)

1. Murphy R, Ellard S, Hattersley AT,. Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab 2008; 4: 200.
2. Froguel P, Zouali H, Vionnet N, et al. Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. N Engl J Med 1993; 328: 697.
3. Yamagata K, Furuta H, Oda N, et al. Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1). Nature 1996; 384: 458.
4. Yamagata K, Oda N, Kaisaki PJ, et al. Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3). Nature 1996; 384: 455.
5. Stoffers DA, Ferrer J, Clarke WL, Habener JF,. Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat Genet 1997; 17: 138.
6. Horikawa Y, Iwasaki N, Hara M, et al. Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet 1997; 17: 384.
7. Malecki MT, Jhala US, Antonellis A, et al. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet 1999; 23: 323.
8. Fajans SS, Bell GI, Bowden DW, Halter JB, Polonsky KS,. Maturity-onset diabetes of the young. Life Sci 1994; 55: 413.
9. Fajans SS, Brown MB,. Administration of sulfonylureas can increase glucose-induced insulin secretion for decades in patients with maturity-onset diabetes of the young. Diabetes Care 1993; 16: 1254.
10. Slingerland AS,. Monogenic diabetes in children and young adults: challenges for researcher, clinician and patient. Rev Endocr Metab Disord 2006; 7: 171.
11. Bingham C, Hattersley AT,. Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta. Nephrol Dial Transplant 2004; 19: 2703.
12. Pearson ER, Badman MK, Lockwood CR, et al. Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations. Diabetes Care 2004; 27: 1102.
13. Ojo AO, Meier-Kriesche HU, Hanson JA, et al. The impact of simultaneous pancreas-kidney transplantation on long-term patient survival. Transplantation 2001; 71: 82.
14. Saudek F, Pruhova S, Boucek P, et al. Maturity-onset diabetes of the young with end-stage nephropathy: a new indication for simultaneous pancreas and kidney transplantation? Transplantation 2004; 77: 1298.
15. Goriely A, Mollereau B, Coffinier C, Desplan C,. Munster, a novel paired-class homeobox gene specifically expressed in the Drosophila larval eye. Mech Dev 1999; 88: 107.
16. Reber M, Cereghini S,. Variant hepatocyte nuclear factor 1 expression in the mouse genital tract. Mech Dev 2001; 100: 75.
17. Coffinier C, Barra J, Babinet C, Yaniv M,. Expression of the vHNF1/HNF1beta homeoprotein gene during mouse organogenesis. Mech Dev 1999; 89: 211.
18. Coffinier C, Gresh L, Fiette L, et al. Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta. Development 2002; 129: 1829.
19. Nishigori H, Yamada S, Kohama T, et al. Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction. Diabetes 1998; 47: 1354.
20. Bingham C, Bulman MP, Ellard S, et al. Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet 2001; 68: 219.
21. Bingham C, Ellard S, Cole TR, et al. Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations. Kidney Int 2002; 61: 1243.
22. Bingham C, Ellard S, van't Hoff WG, et al. Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int 2003; 63: 1645.
23. Malecki MT, Skupien J, Gorczynska-Kosiorz S, et al. Renal malformations may be linked to mutations in the hepatocyte nuclear factor-1alpha (MODY3) gene. Diabetes Care 2005; 28: 2774.
24. Bellanne-Chantelot C, Clauin S, Chauveau D, et al. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes 2005; 54: 3126.
25. Harries LW, Ellard S, Jones RW, Hattersley AT, Bingham C,. Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome. Diabetologia 2004; 47: 937.
26. Raile K, Klopocki E, Wessel T, et al. HNF1B abnormality (mature-onset diabetes of the young 5) in children and adolescents: high prevalence in autoantibody-negative type 1 diabetes with kidney defects. Diabetes Care 2008; 31: e83.
27. Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S,. Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 2010; 53: 2504.
28. Pearson GA,. Mathematical morbidity in paediatric intensive care. Lancet 2003; 362: 180.
29. Isomaa B, Henricsson M, Lehto M, et al. Chronic diabetic complications in patients with MODY3 diabetes. Diabetologia 1998; 41: 467.
30. Couchoud C, Lassalle M, Stengel B, Jacquelinet C,. Renal Epidemiology and Information Network: 2007 annual report. Nephrol Ther 2009; 5 (Suppl 1): S3.
31. Bellanne-Chantelot C, Chauveau D, Gautier JF, et al. Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. Ann Intern Med 2004; 140: 510.
32. Edghill EL, Oram RA, Owens M, et al. Hepatocyte nuclear factor-1beta gene deletions - a common cause of renal disease. Nephrol Dial Transplant 2008; 23: 627.
33. Rigothier C, Harambat J, Llanas B, Subra JF, Combe C,. [Phenotypic heterogeneity of TCF2's gene mutation coding for HNF-1 beta in a single family]. Nephrol Ther 2009; 5: 287.
34. Heidet L, Decramer S, Pawtowski A, et al. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol 2010; 5: 1079.
35. Ulinski T, Bensman A, Lescure S,. Abnormalities of hepatocyte nuclear factor (HNF)-1beta: biological mechanisms, phenotypes, and clinical consequences. Arch Pediatr 2009; 16: 1049.
36. Edghill EL, Bingham C, Ellard S, Hattersley AT,. Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet 2006; 43: 84.
37. Verdeguer F, Le Corre S, Fischer E, et al. A mitotic transcriptional switch in polycystic kidney disease. Nat Med 2010; 16: 106.
38. Boutet A, De Frutos CA, Maxwell PH, Mayol MJ, Romero J, Nieto MA,. Snail activation disrupts tissue homeostasis and induces fibrosis in the adult kidney. EMBO J 2006; 25: 5603.
39. Faguer S, Decramer S, Chassaing N, et al. Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int 2011; 80 (7): 768.
40. Bellanne-Chantelot C, Carette C, Riveline JP, et al. The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. Diabetes 2008; 57: 503.