Diagnosis and Treatment of MODY: An Updated Mini Review

2021 ◽  
Vol 11 (20) ◽  
pp. 9436
Author(s):  
Abegail Tshivhase ◽  
Tandi Matsha ◽  
Shanel Raghubeer

Maturity-Onset Diabetes of the Young (MODY) is the most common form of monogenic diabetes resulting from a single gene mutation. It is characterized by mild hyperglycemia, autosomal dominant inheritance, early onset of diabetes (<25 years), insulin resistance, and preservation of endogenous insulin secretion. Currently, 14 MODY subtypes have been identified, with differences in incidence, clinical features, diabetes severity and related complications, and treatment response. This type of diabetes is mostly misdiagnosed as either type 1 or type 2 diabetes mellitus because it is difficult to differentiate between these forms of diabetes due to clinical similarities, the high cost of genetic testing, and lack of awareness. As a result, thousands of patients are not receiving appropriate treatment. Accurate diagnosis would allow for more effective therapeutic management and treatment strategies that are distinct from those used for type 1 and type 2 diabetes. This review serves to explore MODY subtypes, diagnosis, and treatment, and increase awareness of MODY incidence.

2013 ◽  
Vol 20 (3) ◽  
pp. 343-352
Author(s):  
Cristian Guja ◽  
Loreta Guja ◽  
Constantin Ionescu-Tîrgovişte

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


2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
David S. H. Bell

SGLT2 inhibitors are only approved for use in adults with type 2 diabetes. However, because SGLT2 inhibitors have a mechanism of action that does not require the presence of endogenous insulin, these drugs should also be efficacious in type 1 diabetes where endogenous insulin production is greatly reduced or absent. Herein, I present five cases which illustrate the benefits of utilizing an SGLT2 inhibitor with type 1 diabetes. In these cases the use of SGLT2 inhibitors resulted not only in better glycemic control in most patients but also in some patients’ less hypoglycemia, weight loss, and decreased doses of insulin. In type 1 diabetesCandida albicansvaginitis and balanitis may occur more frequently than in type 2 diabetes. These cases show that a large randomized clinical trial of SGLT2 inhibitors in type 1 diabetes needs to be performed.


2012 ◽  
Vol 2012 ◽  
pp. 1-9 ◽  
Author(s):  
T. J. Whitmore ◽  
N. J. Trengove ◽  
D. F. Graham ◽  
P. E. Hartmann

Despite the important role that insulin plays in the human body, very little is known about its presence in human milk. Levels rapidly decrease during the first few days of lactation and then, unlike other serum proteins of similar size, achieve comparable levels to those in serum. Despite this, current guides for medical treatment suggest that insulin does not pass into milk, raising the question of where the insulin in milk originates. Five mothers without diabetes, 4 mothers with type 1, and 5 mothers with type 2 diabetes collected milk samples over a 24-hour period. Samples were analysed for total and endogenous insulin content and for c-peptide content. All of the insulin present in the milk of type 1 mothers was artificial, and c-peptide levels were 100x lower than in serum. This demonstrates that insulin is transported into human milk at comparable concentration to serum, suggesting an active transport mechanism. The role of insulin in milk is yet to be determined; however, there are a number of potential implications for the infant of the presence of artificial insulins in milk.


2004 ◽  
Vol 17 (1) ◽  
pp. 55-60 ◽  
Author(s):  
Stephen W. Durst ◽  
Deb Schering

Approximately 11 million of the 17 million US citizens with type 2 diabetes mellitus also have hypertension. The development of diabetic nephropathy in patients with type 1 diabetes is frequently associated with hypertension, and both may present several years after the onset of diabetes. In type 2 diabetes, hypertension may precede the development of diabetes by several years. Differences that exist between type 1 and type 2 diabetes and the development of hypertension may indicate differences in the concomitant disease processes, yet the inevitable development of both diseases contributes to significant increases in risk of cardiovascular disease.The pharmacist must be familiar with blood pressure treatment goals in the hypertensive-diabetic patient and appropriate pharmacotherapeutic management. This article outlines treatment goals in the patient with diabetes and concurrent hypertension, reviews trials assessing pharmacologic treatments, and provides a summary of monitoring parameters to guide the pharmacist in the management of this population.


2020 ◽  
Vol 57 (10) ◽  
pp. 1245-1253
Author(s):  
S. R. Tittel ◽  
◽  
K. M. Sondern ◽  
M. Weyer ◽  
T. Poeplau ◽  
...  

Abstract Aims To compare diabetes patients with hyperglycaemic hyperosmolar state (HHS), diabetic ketoacidosis (DKA), and patients without decompensation (ND). Methods In total, 500,973 patients with type 1 or type 2 diabetes of all ages registered in the diabetes patient follow-up (DPV) were included. Analysis was stratified by age (≤ / > 20 years) and by manifestation/follow-up. Patients were categorized into three groups: HHS or DKA—during follow-up according to the most recent episode—or ND. Results At onset of diabetes, HHS criteria were met by 345 (68.4% T1D) and DKA by 9824 (97.6% T1D) patients. DKA patients had a lower BMI(-SDS) in both diabetes types compared to ND. HbA1c was higher in HHS/DKA. During follow-up, HHS occurred in 1451 (42.2% T1D) and DKA in 8389 patients (76.7% T1D). In paediatric T1D, HHS/DKA was associated with younger age, depression, and dyslipidemia. Pump usage was less frequent in DKA patients. In adult T1D/T2D subjects, metabolic control was worse in patients with HHS/DKA. HHS and DKA were also associated with excessive alcohol intake, dementia, stroke, chronic kidney disease, and depression. Conclusions HHS/DKA occurred mostly in T1D and younger patients. However, both also occurred in T2D, which is of great importance in the treatment of diabetes. Better education programmes are necessary to prevent decompensation and comorbidities.


2011 ◽  
Vol 07 (02) ◽  
pp. 95 ◽  
Author(s):  
Ildiko Lingvay ◽  

Although hypoglycemia has traditionally been considered a significant complication of the treatment of type 1 diabetes, the greater incidence of type 2 diabetes compared with type 1, the intensive treatment strategies currently employed, and the longer life expectancy of patients with diabetes, give rise to a large number of type 2 patients at risk for hypoglycemia. This number is likely to rise in an aging population with the increasing use of insulin to treat diabetes. The highest incidence of hypoglycemia is seen in older patients with poor glycemic control and is associated with the use of antidiabetic agents that increase blood insulin concentrations independently of blood glucose concentration (oral antidiabetic drugs or exogenous insulin). Hypoglycemia has a substantial clinical impact in terms of mortality, morbidity, and quality of life. The economic impact of severe hypoglycemic events owing to direct hospital costs and the indirect costs of the inability to work are considerable. Furthermore, both patients’ and physicians’ fear of hypoglycemia reduces adherence to therapeutic regimens and limits the ability of current diabetes medications to achieve the level of glycemic control required to prevent disease progression. Newer therapies and improvements in patient education may help patients achieve improved glucose control by safely reducing glycosylated hemoglobin (HbA1c) with a lower risk of hypoglycemia.


2008 ◽  
Vol 38 (15) ◽  
pp. 18
Author(s):  
SHERRY BOSCHERT
Keyword(s):  

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