Identification and Functional Analysis of Mutations in the Hepatocyte Nuclear Factor-1  Gene in Anti-Islet Autoantibody-Negative Japanese Patients with Type 1 Diabetes

2000 ◽  
Vol 85 (1) ◽  
pp. 331-335 ◽  
Author(s):  
E. Kawasaki
Keyword(s):  
Functional Analysis ◽  
Type 1 Diabetes ◽  
Japanese Patients ◽  
Islet Autoantibody ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Nuclear Factor 1

scholarly journals Maturity Onset Diabetes of the Young due to Glucokinase, HNF1-A, HNF1-B, and HNF4-A Mutations in a Cohort of Turkish Children Diagnosed as Type 1 Diabetes Mellitus

2018 ◽  
Vol 90 (4) ◽  
pp. 257-265 ◽  
Author(s):  
Elif Ozsu ◽  
Filiz Mine Cizmecioglu ◽  
Gul Yesiltepe Mutlu ◽  
Aysegul Bute Yuksel ◽  
Mursel Calıskan ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Rare Condition ◽  
High Sensitivity ◽  
Genetic Mutation ◽  
Nuclear Factor ◽  
Maturity Onset Diabetes ◽  
Hepatocyte Nuclear Factor ◽  
Turkish Children ◽  
Onset Diabetes

Background/Aims: Maturity onset diabetes of the young (MODY) is a rare condition often misdiagnosed as type 1 diabetes (T1D). The purposes of this study were: to identify any patients followed in a large Turkish cohort as T1D, with an atypical natural history, who may in fact have MODY, and to define the criteria which would indicate patients with likely MODY as early as possible after presentation to allow prompt genetic testing. Methods: Urinary C-peptide/creatinine ratio (UCPCR) was studied in 152 patients having a diagnosis of T1D for at least 3 years. Those with a UCPCR ≥0.2 nmol/mmol were selected for genetic analysis of the Glucokinase (GCK), Hepatocyte nuclear factor 1a (HNF1A), Hepatocyte nuclear factor 4a (HNF4A), and Hepatocyte nuclear factor 1b (HNF1B) genes. This UCPCR cut-off was used because of the reported high sensitivity and specificity. Cases were also evaluated using a MODY probability calculator. Results: Twenty-three patients from 152 participants (15.1%) had a UCPCR indicating persistent insulin reserve. The mean age ± SD of the patients was 13.6 ± 3.6 years (range 8.30–21.6). Of these 23, two (8.7%) were found to have a mutation, one with HNF4A and one with HNF1B mutation. No mutations were detected in the GCK or HNF1A genes. Conclusion: In Turkish children with a diagnosis of T1D but who have persistent insulin reserve 3 years after diagnosis, up to 9% may have a genetic mutation indicating a diagnosis of MODY.

scholarly journals Identifying Hepatic Nuclear Factor 1  Mutations in Children and Young Adults With a Clinical Diagnosis of Type 1 Diabetes

Diabetes Care ◽  
2003 ◽  
Vol 26 (2) ◽  
pp. 333-337 ◽  
Author(s):  
A. P. Lambert ◽  
S. Ellard ◽  
L. I.S. Allen ◽  
I. W. Gallen ◽  
K. M. Gillespie ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Young Adults ◽  
Clinical Diagnosis ◽  
Nuclear Factor ◽  
Children And Young Adults ◽  
Hepatic Nuclear Factor 1 ◽  
Nuclear Factor 1

Efficacy of Average Daily Risk Range (ADRR) to Estimate Glycemic Kinetics during Nighttime in Japanese Patients with Type 1 Diabetes Mellitus

Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 928-P
Author(s):  
FUKI IKEDA ◽  
AKIO KANAZAWA ◽  
MAYU IIDA ◽  
HIDEYOSHI KAGA ◽  
NAOKO TAKAYANAGI ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Japanese Patients ◽  
Daily Risk
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