Monogenic Diabetes: Genetics and Relevance on Diabetes Mellitus Personalized Medicine

2020 ◽  
Vol 16 (8) ◽  
pp. 807-819 ◽  
Author(s):  
Madalena Sousa ◽  
Jácome Bruges-Armas
Keyword(s):  
Diabetes Mellitus ◽  
Complex Disease ◽  
Clinical Manifestations ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Diabetes Genetics ◽  
Individualize Treatment

Background: Diabetes mellitus (DM) is a complex disease with significant impression in today's world. Aside from the most common types recognized over the years, such as type 1 diabetes (T1DM) and type 2 diabetes (T2DM), recent studies have emphasized the crucial role of genetics in DM, allowing the distinction of monogenic diabetes. Methods: Authors did a literature search with the purpose of highlighting and clarifying the subtypes of monogenic diabetes, as well as the accredited genetic entities responsible for such phenotypes. Results: The following subtypes were included in this literature review: maturity-onset diabetes of the young (MODY), neonatal diabetes mellitus (NDM) and maternally inherited diabetes and deafness (MIDD). So far, 14 subtypes of MODY have been identified, while three subtypes have been identified in NDM - transient, permanent, and syndromic. Discussion: Despite being estimated to affect approximately 2% of all the T2DM patients in Europe, the exact prevalence of MODY is still unknown, accentuating the need for research focused on biomarkers. Consequently, due to its impact in the course of treatment, follow-up of associated complications, and genetic implications for siblings and offspring of affected individuals, it is imperative to diagnose the monogenic forms of DM accurately. Conclusion: Currently, advances in the genetics field allowed the recognition of new DM subtypes, which until now, were considered slight variations of the typical forms. Thus, it is imperative to act in the close interaction between genetics and clinical manifestations, to facilitate diagnosis and individualize treatment.

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.

Neonatal Diabetes – From Gene Discovery yo Clinical Practice Changes

2013 ◽  
Vol 20 (3) ◽  
pp. 343-352
Author(s):  
Cristian Guja ◽  
Loreta Guja ◽  
Constantin Ionescu-Tîrgovişte
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Single Gene ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Special Focus ◽  
Sulphonylurea Treatment ◽  
The Common

Abstract Diabetes mellitus is one of the most common chronic diseases but also one of the most heterogeneous. Apart the common phenotypes of type 1 and type 2 diabetes, around 1-2% of all cases arise from a single gene mutation and are known as monogenic diabetes. Diabetes diagnosed within the first 6 months of life is known as neonatal diabetes and has been extensively studied during the last two decades. Unraveling the genetic cause and molecular mechanism of this rare diabetes phenotype led to a dramatic change in the treatment of these children who often can be switched from insulin to sulphonylurea treatment. The aim of this paper is to review the known genetic causes of neonatal diabetes and to highlight the most recent aspects of the disease caused by mutations in the KATP and insulin genes, with a special focus on the individualized treatment of these cases

scholarly journals Solitary Encapsulated Neurofibroma Not Associated with Neurofibromatosis-1 Affecting Tongue in a 73-Year-Old Female

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Sk. Abdul Mahmud ◽  
Neha Shah ◽  
Moumita Chattaraj ◽  
Swagata Gayen
Keyword(s):  
Family History ◽  
Clinical Manifestations ◽  
Surgical Excision ◽  
Neurofibromatosis Type ◽  
Clinical Findings ◽  
Benign Tumors ◽  
History Of

Neurofibromas are benign tumors of nerve cell origin arising due to proliferation of Schwann cells and fibroblasts. They are usually asymptomatic and hence remain undiagnosed. They are commonly found on the skin and intraorally tongue is the most common site for their occurrence. Here, we present a unique case of solitary encapsulated neurofibroma in the oral cavity without any clinical manifestations or family history of Neurofibromatosis type 1 in a 73-year-old female patient who presented with a painless swelling on the tongue. The histopathologic findings closely mimicked benign fibrous histiocytoma. In our case, definitive diagnosis of neurofibroma was made based on clinical findings, family history, and histopathological and immunohistochemical evaluation. Through this case report we want to emphasize the role of biopsy and immunohistochemistry in arriving at a confirmatory diagnosis. The patient was treated by surgical excision and showed no signs of recurrence over a follow-up period of 12 months.

Transient Neonatal Diabetes Mellitus: A Challenge and Opportunity for Specialized Nursing Care

2017 ◽  
Vol 36 (4) ◽  
pp. 196-205 ◽  
Author(s):  
Martha Anne Zammit ◽  
Stefanie Marie Agius ◽  
Jean Calleja-Agius
Keyword(s):  
Diabetes Mellitus ◽  
Diabetes Management ◽  
Neonatal Diabetes ◽  
Later Life ◽  
Neonatal Diabetes Mellitus ◽  
Transient Neonatal Diabetes Mellitus ◽  
Transient Neonatal Diabetes

AbstractTransient neonatal diabetes mellitus (TNDM) is a rare disorder, with a reported incidence of approximately 1 in 450,000 live births. It is characterized by insulin-requiring hyperglycemia in the neonatal period. The disease improves by early childhood, but the patient may relapse in later life. Diagnosis is made after genetic testing following presentation with hyperglycemia not conforming to Type 1 or Type 2 diabetes. Management is based on insulin and possible sulfonylurea administration. Three genetically distinct subtypes of TNDM are recognized. Type 1 TNDM is due to overexpression of genes at the 6q24 locus, whereas the 11p15 locus is involved in Type 2 and 3 TNDM. In this article the clinical presentation, management, and genetics of TNDM are discussed, particularly emphasizing the role of the neonatal nurse.

scholarly journals POS1140 RISK FACTORS FOR THE DEVELOPMENT OF DIABETES MELLITUS IN PATIENTS WITH GOUT ACCORDING TO A 6-YEAR PROSPECTIVE FOLLOW-UP STUDY

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 849.2-849
Author(s):  
O. Sheliabina ◽  
M. Elisеev ◽  
A. Novikova ◽  
M. Chikina
Keyword(s):  
Diabetes Mellitus ◽  
Risk Factors ◽  
Family History ◽  
Clinical Manifestations ◽  
Reactive Protein ◽  
Follow Up Study ◽  
Lowering Therapy

Background:Gout is often associated with diabetes mellitus (DM), but the role of serum uric acid (sUA) and urate-lowering drugs in its development in patients with gout remains controversial [1].Objectives:To study risk factors for DM in patients with gout based on the results of long-term prospective follow-up study.Methods:The prospective study included 444 patients with a crystal-verified diagnosis of gout, aged ≥18 years, 49 (11%) women, 395 (89%) men. Patients were followed up at the V.A. Nasonova Research Institute of Rheumatology from 2010 to January 2021, the median follow-up was 6.1 [2.8; 7.8] years. The exclusion criteria were the presence of other rheumatic diseases with symptoms of arthritis, DM. DM was diagnosed on the 1998 WHO criteria. The following parameters were considered as risk factors: gender, family history for diabetes mellitus, body mass index (BMI)>25 kg/m2 and > 30 kg/m2, waist volume ≥88 cm for women and ≥102 cm for men, alcohol consumption > 20 units per week, chronic kidney disease (CKD), intake of diuretics and glucocorticoids, and serum total cholesterol >5 mmol/l, triglycerides>2.25 mmol/l, serum C-reactive protein (CRP) level> 5 mg/l, as well as clinical manifestations of gout: subcutaneous tophi, polyarthritis (simultaneous involvement of ≥5 joints), intake of urate-lowering drugs, sUA (> 480 μmol/L,> 420 μmol/L,> 360 μmol/L,> 300 μmol/L). Statistica 12.0 package was used for statistical data processing.Results:A total of 444 patients were included, the mean age was 51.0±12.9 years, the median follow-up was 6.1 [2.8; 7.8] years. In dynamics: 35 (8%) patients died, 6 (1%) patients were not available, 403 patients were examined (44 (11%) - women and 359 (89%) - men). 290 (72%) patients received urate-lowering therapy (263 (65%) patients used allopurinol, 27 (7%) - febuxostat). The target sUA <360 μmol/L was reached by 165 (41%) patients and <300 μmol/L - by 92 (23%) patients. All patients with sUA<300 μmol/L received urate-lowering therapy, 62 (67%) patients used allopurinol, 17 (18%) - febuxostat, 13 (14%) - uricosuric drugs. Diabetes mellitus was developed in 106 (26%) patients. The factors influencing the risk of developing diabetes were - the presence of diabetes in family history (odds ratio (OR) 2.27, 95% confidence interval (CI) 1.37; 3.76); BMI> 30 kg / m2 (OR 1.79, 95% CI 1.14; 2.80), diuretics (OR 2.32, 95% CI 1.36; 3.96) and sUA> 300 μmol / l (OR 2.89, 95% CI 1.50, 5.56).Conclusion:The risk of developing DM in patients with gout is associated with sUA> 300 μmol/l, which may be one of the probable reasons for choosing this as a target level. Large prospective studies are needed to confirm the antidiabetic effect of urate-lowering drugs.References:[1]Chang HW, Lin YW, Lin MH, Lan YC, Wang RY. Associations between urate-lowering therapy and the risk of type 2 diabetes mellitus. PLoS One. 2019 Jan 7;14(1):e0210085. doi: 10.1371/journal.pone.0210085.Disclosure of Interests:Olga Sheliabina: None declared, Maxim Elisеev Speakers bureau: Berlin Chemie Menarini Group, Novartis International AG, EGIS, Aleksandra Novikova: None declared, Maria Chikina: None declared.

scholarly journals Sulphonylurea responsive monogenic diabetes in an Insulin treated 8-year old child in West Africa; of more than academic interest and one of many?

2021 ◽  
Vol 48 (1) ◽  
pp. 43-45
Author(s):  
L. Corley ◽  
K. Tossou ◽  
M. Amouzouvi-Sadji ◽  
E. De Franco ◽  
R. Firth
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Glycaemic Control ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Genomic Testing ◽  
History Of ◽  
Previously Treated ◽  
Improved Glycaemic Control

We describe the case and identification of monogenic diabetes mellitus in a Togolese girl at the age of eight years, previously treated as Type 1 Diabetes following diagnosis at the age of two months. She has since been transitioned from insulin to oral sulphonylurea therapy, with improved glycaemic control and greater therapeutic security. We believe many more such cases must exist in Africa amongst those with a history of neonatal diabetes. Free genomic testing is available (see below) in suitable cases. The case highlights the value of personalized medicine and international cooperation.

Insulin Dose Adjustment Following Bariatric Surgery, a Review of Available Literature

2021 ◽  
pp. 193229682110288
Author(s):  
Lynn E. Kassel ◽  
Jessica J. Berei ◽  
Jamie M. Pitlick ◽  
Joel E. Rand
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Bariatric Surgery ◽  
Type 2 Diabetes Mellitus ◽  
Dose Adjustment ◽  
Insulin Dose ◽  
Appraisal Tool

Bariatric surgery is a known and effective treatment for type 2 diabetes mellitus. Patients with type 1 diabetes mellitus and exogenous insulin-requiring type 2 diabetes mellitus require adjusted insulin dosing after surgery to avoid hypoglycemia. This review describes insulin dose adjustments following a variety of bariatric procedures. After searching the available literature and assessing for eligibility, 8 articles were included. The Johns Hopkins Research Evidence Appraisal Tool for literature appraisal was used. The results of this review reveal insulin dose adjustment varies based upon surgical procedure type and time of follow-up from the procedure.

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