Language:

Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B ( HNF1B ) Molecular Defects

Diabetes care, 2017-11, Vol.40 (11), p.1436-1443 [Peer Reviewed Journal]

2017 by the American Diabetes Association. ;Copyright American Diabetes Association Nov 2017 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0149-5992 ;EISSN: 1935-5548 ;DOI: 10.2337/dc16-2462 ;PMID: 28420700

Full text available

Citations Cited by

Actions
1. Add to My Research
2. Remove from My Research
3. E-mail
4. Print
5. Permalink
6. Citation
7. EasyBib
8. EndNote
9. RefWorks
10. Delicious
11. Export RIS
12. Export BibTeX

Title:
Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B ( HNF1B ) Molecular Defects
Author: Dubois-Laforgue, Danièle ; Cornu, Erika ; Saint-Martin, Cécile ; Coste, Joël ; Bellanné-Chantelot, Christine ; Timsit, José
Subjects: Abnormalities ; Adolescent ; Adult ; Adults ; Blood Glucose - metabolism ; Body Mass Index ; Cardiovascular disease ; Cardiovascular diseases ; Cardiovascular Diseases - epidemiology ; Cardiovascular Diseases - etiology ; Cardiovascular Diseases - genetics ; Child ; Complications ; Correlation ; Cysts ; Defects ; Diabetes ; Diabetes mellitus ; Diabetes Mellitus, Type 2 - complications ; Diabetes Mellitus, Type 2 - diagnosis ; Diabetes Mellitus, Type 2 - drug therapy ; Diabetes Mellitus, Type 2 - genetics ; Diabetic Retinopathy - complications ; Diabetic Retinopathy - diagnosis ; Diabetic Retinopathy - epidemiology ; Diabetic Retinopathy - genetics ; Diagnosis ; End-stage renal disease ; Endocrinology and metabolism ; Etiology ; Female ; Follow-Up Studies ; Gene Deletion ; Genetic Association Studies ; Genotype & phenotype ; Health risks ; Hepatocyte Nuclear Factor 1-beta - genetics ; Hepatocyte Nuclear Factor 1-beta - metabolism ; Human health and pathology ; Humans ; Insulin ; Insulin - therapeutic use ; Kidney diseases ; Kidney Diseases - complications ; Kidney Diseases - diagnosis ; Kidney Diseases - epidemiology ; Kidney Diseases - genetics ; Kidney transplantation ; Life Sciences ; Male ; Medical prognosis ; Mutation ; Neuropathy ; Patients ; Prognosis ; Research design ; Retinopathy ; Retrospective Studies ; Risk analysis ; Risk Factors ; Young Adult
Is Part Of: Diabetes care, 2017-11, Vol.40 (11), p.1436-1443
Description: Molecular defects of hepatocyte nuclear factor 1B ( ) are associated with a multiorgan disease, including diabetes (maturity-onset diabetes of the young 5) and kidney abnormalities. The HNF1B syndrome is related to mutations or to a 17q12 deletion spanning 15 genes, including . Here, we described HNF1B-related diabetes and associated phenotypes and assessed genotype/phenotype correlations at diagnosis and in the long-term. This multicenter retrospective cohort study included 201 patients, aged 18 years or older at follow-up, with mutations ( = 101) or deletion ( = 100). Diabetes was present in 159 patients. At diagnosis, clinical symptoms of diabetes were present in 67 of 144 patients and HNF1B renal disease in 64 of 102. Although responsiveness to sulfonylureas/repaglinide was observed in 29 of the 51 tested, 111 of 140 patients (79%) were treated with insulin at follow-up. Diabetic retinopathy and/or neuropathy were present in 46 of 114 patients. Renal cysts were present in 122 of 166 patients, chronic kidney disease stages 3-4 (CKD3-4) in 75 of 169 (44%), and end-stage renal disease (ESRD) in 36 of 169 (21%). Compared with the patients with mutations, those with deletion less often had CKD3-4/ESRD at diagnosis (11 of 43 vs. 27 of 35, < 10 ) and in the long term (40 of 78 vs. 71 of 91, = 0.0003). They were leaner and more frequently treated with insulin. In patients with HNF1B syndrome, diabetes complications, cardiovascular risk factors, CKD3-4, and ESRD are highly prevalent. At diabetes diagnosis, the presence of morphological and/or functional kidney disease may help etiological diagnosis. Genotype/phenotype correlations may have implications for the care and the prognosis of these patients.
Publisher: United States: American Diabetes Association
Language: English
Identifier: ISSN: 0149-5992
EISSN: 1935-5548
DOI: 10.2337/dc16-2462
PMID: 28420700
Source: Geneva Foundation Free Medical Journals at publisher websites
Hyper Article en Ligne (HAL) (Open Access)
MEDLINE
Alma/SFX Local Collection

Back to results list


INSPIRE LIBRARY - TON DUC THANG UNIVERSITY	(84-028) 37 755 057	Feedback
19 Nguyen Huu Tho St. Dist.7, HCM	thuvien@tdtu.edu.vn	Feedback

Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B ( HNF1B ) Molecular Defects

2017 by the American Diabetes Association. ;Copyright American Diabetes Association Nov 2017 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0149-5992 ;EISSN: 1935-5548 ;DOI: 10.2337/dc16-2462 ;PMID: 28420700

Searching Remote Databases, Please Wait