scholarly journals A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide

2015 ◽  
Vol 24 (4) ◽  
pp. 191-193 ◽  
Author(s):  
Ryojun Takeda ◽  
Masaki Takagi ◽  
Kentaro Miyai ◽  
Hiroyuki Shinohara ◽  
Hiroko Yagi ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Japanese Patient ◽  
Novel Mutation ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Abcc8 Gene

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.

scholarly journals Transient neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene

2019 ◽  
Author(s):  
Edip Unal ◽  
Ruken Yıldırım ◽  
Funda Feryal Taş ◽  
Süleyman Yıldız ◽  
Vasfiye Demir ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Novel Mutation ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Transient Neonatal Diabetes Mellitus ◽  
Abcc8 Gene ◽  
Transient Neonatal Diabetes

scholarly journals A Case of Transient Neonatal Diabetes Mellitus Attributable to a Nonspecific Mutation in the ABCC8 Gene

2021 ◽  
Vol 27 (2) ◽  
pp. 121-124
Author(s):  
Won Seob Shin ◽  
Hwal Rim Jeong ◽  
Ji Won Koh
Keyword(s):  
Diabetes Mellitus ◽  
Early Adulthood ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Clinical Form ◽  
Abcc8 Gene ◽  
Type 2 Dm ◽  
Chromosome 6Q24 ◽  
Transient Neonatal Diabetes

Neonatal diabetes mellitus (NDM) is defined as hyperglycemia that persists for more than 2 weeks and requires insulin therapy. NDM principally occurs before 6 months of age. Transient NDM (TNDM) is a clinical form of NDM that persists for a median of 12 weeks and resolves completely by 18 months. However, it may relapse as type 2 DM during early adulthood. The major causes of TNDM are mutations in chromosome 6q24 or the KCNJ11 or ABCC8 genes; the latter encode the two subunits of the pancreatic adenosine triphosphate (ATP)-sensitive potassium channel (KATP-channel). This condition responds well to oral sulfonylurea therapy. Herein, we report a neonate who was small for gestational age and exhibited TNDM symptoms. Genetic analysis revealed a nonspecific mutation in ABCC8; he was successfully treated with oral sulfonylurea.

Neonatal Diabetes Mellitus Due to a Novel ABCC8 Gene Mutation Mimicking an Organic Acidemia

2013 ◽  
Vol 81 (7) ◽  
pp. 702-704 ◽  
Author(s):  
Akanksha N. Thakkar ◽  
Mamta N. Muranjan ◽  
Sunil Karande ◽  
Nalini S. Shah
Keyword(s):  
Diabetes Mellitus ◽  
Gene Mutation ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Organic Acidemia ◽  
Abcc8 Gene

A novel mutation in INS gene linked to permanent neonatal diabetes mellitus

Endocrine ◽  
2019 ◽  
Vol 64 (3) ◽  
pp. 719-723 ◽  
Author(s):  
Tao Wang ◽  
Sisi Ding ◽  
Sicheng Li ◽  
Heming Guo ◽  
Xiaohong Chen ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Novel Mutation ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Permanent Neonatal Diabetes ◽  
Permanent Neonatal Diabetes Mellitus

scholarly journals Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene

2012 ◽  
Vol 32 (8) ◽  
pp. 645-647 ◽  
Author(s):  
O Oztekin ◽  
E Durmaz ◽  
S Kalay ◽  
S E Flanagan ◽  
S Ellard ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Missense Mutation ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Abcc8 Gene

Neonatal diabetes mellitus due to a novel mutation in theGATA6gene accompanying renal dysfunction: A case report

2015 ◽  
Vol 167 (4) ◽  
pp. 925-927 ◽  
Author(s):  
Hale Tuhan ◽  
Gonul Catli ◽  
Ahmet Anik ◽  
Derya Özmen ◽  
Mehmet Atilla Türkmen ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Case Report ◽  
Renal Dysfunction ◽  
Novel Mutation ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus

Molecular-genetic verification and treatment of neonatal diabetes mellitus related to the defects in ATP-dependent potassium channels: Results of the observation of 9 patients and the first description of ABCC8 gene mutations in Russia

2011 ◽  
Vol 57 (2) ◽  
pp. 3-8
Author(s):  
I I Dedov ◽  
Iu V Tikhonovich ◽  
Elena E Petriaikina ◽  
I G Rybkina ◽  
I É Volkov ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Pancreatic Beta Cells ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Neonatal Diabetes ◽  
Molecular Genetic Analysis ◽  
Neonatal Diabetes Mellitus ◽  
Molecular Genetic Study ◽  
Abcc8 Gene ◽  
Sound Therapy

Introduction of the methods for molecular-genetic analysis into clinical practice has opened up new prospects for both diagnosis and pathogenetically sound therapy of neonatal diabetes mellitus. It is currently known that the overwhelming majority of the cases of diabetes mellitus developing in children during the first six month of life are associated with defects of the genes controlling formation, development, and functional activity of pancreatic beta-cells whereas type 1 diabetes mellitus of autoimmune origin accounts for less than 1% of this pathology. This paper reports the results of a molecular-genetic study of 14 patients presenting with neonatal diabetes mellitus. Nine cases are shown to have developed as a result of mutations in KCNJ11 and ABCC8 genes. ABCC8 mutations are described for the first time in Russia. Analysis of clinical forms of neonatal diabetes mellitus revealed correlation between the type of mutations, clinical features of the disease, and susceptibility of the patients to sulfonylurea drugs.

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