Activating Mutations in theABCC8Gene in Neonatal Diabetes Mellitus

2006 ◽  
Vol 355 (5) ◽  
pp. 456-466 ◽  
Author(s):  
Andrey P. Babenko ◽  
Michel Polak ◽  
Hélène Cavé ◽  
Kanetee Busiah ◽  
Paul Czernichow ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Activating Mutations

scholarly journals Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene

2008 ◽  
Vol 52 (8) ◽  
pp. 1350-1355 ◽  
Author(s):  
Thais Della Manna ◽  
Claudilene Battistim ◽  
Vanessa Radonsky ◽  
Roberta D. Savoldelli ◽  
Durval Damiani ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Hemoglobin A1c ◽  
Neonatal Diabetes ◽  
Tolerance Test ◽  
Neonatal Diabetes Mellitus ◽  
Oral Glucose ◽  
Permanent Neonatal Diabetes ◽  
Permanent Neonatal Diabetes Mellitus ◽  
Activating Mutations ◽  
Brazilian Child

Heterozygous activating mutations of KCNJ11 (Kir6.2) are the most common cause of permanent neonatal diabetes mellitus (PNDM) and several cases have been successfully treated with oral sulfonylureas. We report on the attempted transfer of insulin therapy to glibenclamide in a 4-year old child with PNDM and DEND syndrome, bearing a C166Y mutation in KCNJ11. An inpatient transition from subcutaneous NPH insulin (0.2 units/kg/d) to oral glibenclamide (1 mg/kg/d and 1.5 mg/kg/d) was performed. Glucose and C-peptide responses stimulated by oral glucose tolerance test (OGTT), hemoglobin A1c levels, the 8-point self-measured blood glucose (SMBG) profile and the frequency of hypoglycemia episodes were analyzed, before and during treatment with glibenclamide. Neither diabetes control nor neurological improvements were observed. We concluded that C166Y mutation was associated with a form of PNDM insensitive to glibenclamide.

Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation

2016 ◽  
Vol 29 (12) ◽  
Author(s):  
Elif Ozsu ◽  
Dinesh Giri ◽  
Gulcan Seymen Karabulut ◽  
Senthil Senniappan
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
The Other ◽  
Rare Form ◽  
Successful Transition ◽  
Activating Mutations ◽  
Chromosome 6Q24

Abstract Neonatal diabetes is a rare form of monogenic diabetes characterised by persistent hyperglycaemia during the first 6–9 months of age. About half of the cases of neonatal diabetes are transient forms resulting from mutations in the genes in the imprinted region of chromosome 6q24 and the other half are permanent forms. Activating mutations in the potassium ATP (K

25-OR: Investigating a Candidate Causal Allele in Type 2 Diabetes Susceptibility Gene PAM as a Cause of Neonatal Diabetes Mellitus

Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 25-OR
Author(s):  
SHAHANA SENGUPTA ◽  
LORI L. BONNYCASTLE ◽  
BENOIT HASTOY ◽  
ANTJE GROTZ ◽  
MAHESH M. UMAPATHYSIVAM ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Susceptibility Gene ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Diabetes Susceptibility ◽  
Diabetes Susceptibility Gene ◽  
Causal Allele

scholarly journals Correction to: Neonatal Diabetes Mellitus: Novel Mutations

2021 ◽  
Author(s):  
Sapna Nayak ◽  
Aditya Narayan Sarangi ◽  
Saroj Kumar Sahoo ◽  
Pragya Mangla ◽  
Manoranjan Tripathy ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Novel Mutations

The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene

2020 ◽  
Vol 33 (12) ◽  
pp. 1605-1608
Author(s):  
Xiao Qin ◽  
Jingzi Zhong ◽  
Dan Lan
Keyword(s):  
Diabetes Mellitus ◽  
Novel Mutation ◽  
Male Infant ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Rare Form ◽  
Case Presentation ◽  
Abcc8 Gene

AbstractObjectivesNeonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes that is usually diagnosed in the first six months of life.Case presentationWe report on a male infant with neonatal diabetes who presented with diabetic ketoacidosis at two months and 16 days. A novel homozygous missense mutation (c.259T>G) was identified in the ABCC8 gene. In this case, insulin was replaced with glimepiride at a dosage of 0.49 mg/kg/day at five months, and this achieved metabolic control and satisfactory growth as observed at follow-up.ConclusionsThis report improves our understanding of the mutational spectrum of ABCC8, which is normally associated with NDM, and shows that the treatment regimen for this condition can be successfully switched from insulin therapy to the use of sulfonylurea.

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

Differentiating Transient Idiopathic Hyperglycaemia and Neonatal Diabetes Mellitus in Preterm Infants

2015 ◽  
Vol 84 (1) ◽  
pp. 68-72 ◽  
Author(s):  
Kanetee Busiah ◽  
Julie Auger ◽  
Anne-Laure Fauret-Amsellem ◽  
Sonia Dahan ◽  
Nathalie Pouvreau ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Preterm Infants ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus
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