scholarly journals Case report: coeliac disease as a cause of secondary failure of glibenclamide therapy in a patient with permanent neonatal diabetes due to KCNJ11/R201C mutation

Diabetologia ◽  
2021 ◽  
Author(s):  
Dario Iafusco ◽  
Angela Zanfardino ◽  
Alessia Piscopo ◽  
Francesca Casaburo ◽  
Angelica De Nigris ◽  
...  
Keyword(s):  
Case Report ◽  
Coeliac Disease ◽  
Neonatal Diabetes ◽  
Permanent Neonatal Diabetes ◽  
Secondary Failure

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

A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: A case report

2013 ◽  
Vol 39 (4) ◽  
pp. 370-374 ◽  
Author(s):  
G. Catli ◽  
A. Abaci ◽  
S.E. Flanagan ◽  
E. De Franco ◽  
S. Ellard ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Neonatal Diabetes ◽  
Permanent Neonatal Diabetes

Permanent neonatal diabetes mellitus: Epidemiology, mode of presentation, pathogenesis and growth

1999 ◽  
Vol 66 (3) ◽  
pp. 363-373 ◽  
Author(s):  
Ashraf T. Soliman ◽  
Mahmoud M. ElZalabany ◽  
Bhasker Bappal ◽  
Issa AlSalmi ◽  
Vasantha de Silva ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Permanent Neonatal Diabetes ◽  
Permanent Neonatal Diabetes Mellitus ◽  
Mode Of Presentation

Coeliac Disease Associated with Peripheral Neuropathy in a Child: A Case Report

1998 ◽  
Vol 29 (3) ◽  
pp. 155-158 ◽  
Author(s):  
A. Simonati ◽  
P. Battistella ◽  
C. Guariso ◽  
M. Clementi ◽  
N. Rizzuto
Keyword(s):  
Case Report ◽  
Peripheral Neuropathy ◽  
Coeliac Disease

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes

Diabetologia ◽  
2002 ◽  
Vol 45 (2) ◽  
pp. 290-290 ◽  
Author(s):  
A. L. Gloyn ◽  
S. Ellard ◽  
J. P. Shield ◽  
I. K. Temple ◽  
D. J. G. Mackay ◽  
...  
Keyword(s):  
Neonatal Diabetes ◽  
Permanent Neonatal Diabetes ◽  
Common Cause
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