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

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 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.

scholarly journals Severe Dental Disease as a Presenting Sign of Relapsed 6q24-Related Transient Neonatal Diabetes Mellitus

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Anna Delamerced ◽  
Lauren J. Massingham ◽  
Jose Bernardo Quintos
Keyword(s):  
Diabetes Mellitus ◽  
Cell Function ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
First Year ◽  
Dental Disease ◽  
Transient Neonatal Diabetes Mellitus ◽  
Chromosome 6Q24 ◽  
Β Cell Function ◽  
Transient Neonatal Diabetes

Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes that presents in infancy and is characterized by intrauterine growth restriction and hyperglycemia without ketones on urinalysis. Patients are treated with insulin until remission, usually within the first year. Relapse to a permanent state may occur later in life, with a mean age of 14 years. The most common cause of TNDM is a chromosome 6q24 mutation that affects pancreatic β-cell function. Reports of relapse have been limited. We describe a case of an adolescent female with TNDM due to 6q24 hypomethylation who relapsed at 15 years of age with severe dental disease as the presenting sign.

scholarly journals Monogenic diabetes mellitus and clinical implications of genetic diagnosis

2021 ◽  
Vol 5 (3) ◽  
pp. 106-116
Author(s):  
Eungu Kang ◽  
Lindsey Yoojin Chung ◽  
Yu Jin Kim ◽  
Kyung Eun Oh ◽  
Young-Jun Rhie
Keyword(s):  
Diabetes Mellitus ◽  
Cell Function ◽  
Single Gene ◽  
Genetic Diagnosis ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Clinical Implications ◽  
High Dose ◽  
Activating Mutations ◽  
Β Cell Function

Monogenic diabetes mellitus, which is diabetes caused by a defect in a single gene that is associated with β cell function or insulin action, accounts for 1% to 6% of all pediatric diabetes cases. Accurate diagnosis is important, as the effective treatment differs according to genetic etiology in some types of monogenic diabetes: high-dose sulfonylurea treatment in neonatal diabetes caused by activating mutations in KCNJ11 or ABCC8; low-dose sulfonylurea treatment in HNF1A/HNF4A-diabetes; and no treatment in GCK diabetes. Monogenic diabetes should be suspected by clinicians for certain combinations of clinical features and laboratory results, and approximately 80% of monogenic diabetes cases are misdiagnosed as type 1 diabetes or type 2 diabetes. Here, we outline the types of monogenic diabetes and the clinical implications of genetic diagnosis.

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.

scholarly journals MOLECULAR GENETICS AND CLINICAL ASPECTS OF MONOGENIC DIABETES MELLITUS

2012 ◽  
Vol 67 (1) ◽  
pp. 81-86 ◽  
Author(s):  
V. A. Peterkova ◽  
T. L. Kuraeva ◽  
S. A. Prokof’ev ◽  
A. O. Emel'yanov ◽  
E. Yu. Zakharova ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Molecular Genetics ◽  
Neonatal Diabetes ◽  
Clinical Results ◽  
Monogenic Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Clinical Aspects ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes ◽  
Didmoad Syndrome

The paper is dedicated to clinical and laboratory aspects of Diabetes Mellitus non-immune forms, such as neonatal Diabetes Mellitus, Maturity Onset Diabetes of young (MODY), DIDMOAD-syndrome, Wolframe syndrome, Alstrom syndrome and its determinating genes. The analysis of proper clinical results are present in this paper.

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
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