scholarly journals Sulfonylrea Treatment in Permanent Neonatal Diabetes Due to G53D Mutation in the KCNJ11 Gene: Improvement in glycemic control and neurological function

Diabetes Care ◽  
2007 ◽  
Vol 30 (11) ◽  
pp. e108-e108 ◽  
Author(s):  
L. C. Gurgel ◽  
F. Crispim ◽  
M. H. S. Noffs ◽  
E. Belzunces ◽  
M. A. Rahal ◽  
...  
Keyword(s):  
Glycemic Control ◽  
Neonatal Diabetes ◽  
Neurological Function ◽  
Permanent Neonatal Diabetes ◽  
Kcnj11 Gene

scholarly journals Islet-Specific Antibody Seroconversion in Patients With Long Duration of Permanent Neonatal Diabetes Caused by Mutations in the KCNJ11 Gene

Diabetes Care ◽  
2007 ◽  
Vol 30 (8) ◽  
pp. 2080-2082 ◽  
Author(s):  
A. Gach ◽  
K. Wyka ◽  
M. T. Malecki ◽  
A. Noczynska ◽  
J. Skupien ◽  
...  
Keyword(s):  
Specific Antibody ◽  
Neonatal Diabetes ◽  
Permanent Neonatal Diabetes ◽  
Long Duration ◽  
Kcnj11 Gene

scholarly journals Successful transition to sulphonylurea therapy from insulin in a child with permanent neonatal diabetes due to a KCNJ11 gene mutation

2018 ◽  
Vol 9 (2) ◽  
pp. 65 ◽  
Author(s):  
Venkatesan Radha ◽  
Bhuvanagiri Ramya ◽  
Sundaramoorthy Gopi ◽  
Babu Kavitha ◽  
Somayajula Preetika ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Neonatal Diabetes ◽  
Permanent Neonatal Diabetes ◽  
Successful Transition ◽  
Kcnj11 Gene

Permanent neonatal diabetes due to KCNJ11 gene mutation

2007 ◽  
Vol 74 (10) ◽  
pp. 947-949 ◽  
Author(s):  
S. Letha ◽  
Darly Mammen ◽  
Joseph J. Valamparampil
Keyword(s):  
Gene Mutation ◽  
Neonatal Diabetes ◽  
Permanent Neonatal Diabetes ◽  
Kcnj11 Gene

A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus

2014 ◽  
Vol 104 (1) ◽  
pp. e29-e32 ◽  
Author(s):  
Wei-Lun Chang ◽  
Chun-Jui Huang ◽  
Tsun-Hsiang Lei ◽  
Dau-Ming Niu ◽  
Chih-Yang Chiu ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Novel Mutation ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Permanent Neonatal Diabetes ◽  
Permanent Neonatal Diabetes Mellitus ◽  
Kcnj11 Gene

Seizure as a Presentation of Permanent Neonatal Diabetes Mellitus due to Mutation in KCNJ11 Gene: A Case Report

2020 ◽  
Vol 40 (1) ◽  
pp. 56-59
Author(s):  
Sibabratta Patnaik ◽  
Bandya Sahoo ◽  
Mukesh Kumar Jain ◽  
Reshmi Mishra ◽  
Jyotiranjan Behera
Keyword(s):  
Diabetes Mellitus ◽  
Case Report ◽  
Insulin Infusion ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Heterozygous Mutation ◽  
Rare Entity ◽  
Permanent Neonatal Diabetes ◽  
Live Births ◽  
Kcnj11 Gene

Diabetes Mellitus in first six months of life is usually monogenic and is referred to as neonatal diabetes mellitus. The incidence of neonatal diabetes is extremely rare and varies from 1:89000 to 1:400000 live births. We report a two months old baby presenting with repeated seizures; on evaluation found to have diabetic ketoacidosis and initially managed with IV insulin infusion. Genetic study revealed heterozygous mutation, p. Valin 252 Leu in KCNJ 11 gene. This mutation suggests responsiveness to oral glibenclamide. The baby has responded to therapy. Seizure as a presenting feature for hyperglycemia is a rare entity

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