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Pathophysiology of Diabetes
Published in Jahangir Moini, Matthew Adams, Anthony LoGalbo, Complications of Diabetes Mellitus, 2022
Jahangir Moini, Matthew Adams, Anthony LoGalbo
Neonatal diabetes affects infants and their ability to produce or use insulin. It is a monogenic condition that is controlled by a single gene. Neonatal diabetes develops within the first 6 months of life. Since there is not enough insulin produced, the glucose levels increase. This rare disease only occurs in 1 of every 100,000–500,000 live births. It can be mistaken for type 1 diabetes. There are two types of neonatal diabetes. The permanent form is lifelong, while the transient form disappears during infancy. However, the transient form can recur later in life. Onset of neonatal diabetes can be linked to abnormal pancreatic development and the speeds of beta cell dysfunction. The condition can be genetically linked between patients and offspring. Symptoms include polydipsia, polyuria, dehydration, dry mouth, tiredness, and dark-colored urine. When dehydration is severe, signs include hypotension, sunken eyes, weak pulse, tachycardia, and fatigue. Ketoacidosis develops if the disease is severe. Related to neonatal diabetes is intrauterine growth restriction, with the fetus not growing to reach a normal weight within the womb. After birth, the infant may have hyperglycemia or hypoglycemia. Permanent and transient neonatal diabetes are both genetically inherited from the mother or father.
Precision medicine in diabetes mellitus
Published in Debmalya Barh, Precision Medicine in Cancers and Non-Communicable Diseases, 2018
Sandhiya Selvarajan, Akila Srinivasan, Nishanthi Anandabaskar, Sadishkumar Kamalanathan, Melvin George
The role of genetics and the genes signifying augmented threat to the occurrence of various types of diabetes mellitus have been identified. GWAS (genome-wide association studies) have identified a wide variety of genetic susceptibility loci for development of type 1 and type 2 diabetes mellitus. The risk of type 1 diabetes is increased from 1 in 300 to 1 in 15 in patients possessing DR3-DQ2/ DR4-DQ8 haplotypes together in their MHC (major histocompatibility complex) region on chromosome 6 (Hartley, 2014). Likewise numerous candidate genes, including peroxisome proliferator-activated receptor gamma (PPARγ2), associated with increased risk of developing type 2 diabetes have also been identified (Abbas et al., 2013). Further, the American Diabetes Association (ADA) states that the children diagnosed with diabetes during the initial 6 months of their life need genetic testing for precise diagnosis of neonatal diabetes, as it is imperative to treat them with sulfonylureas (American Diabetes Association, 2016).
Emerging technologies in pediatrics: the paradigm of neonatal diabetes mellitus
Published in Critical Reviews in Clinical Laboratory Sciences, 2020
Nicolas C. Nicolaides, Christina Kanaka-Gantenbein, Nektaria Papadopoulou-Marketou, Amalia Sertedaki, George P. Chrousos, Ioannis Papassotiriou
Neonatal diabetes is a rare disease with an incidence that ranges between 1:100,000 and 1:400,000. It may occur alone or in the context of genetic syndromes [5]. In its transient form, NDM remits and eventually relapses in the next several years, whereas permanent NDM does not remit. Finally, syndromic NDM may exist as one of the several clinical features of a syndrome [6]. Transient and permanent NDM contribute equally to 90% of the cases, while the syndromic form accounts for the remaining 10% (Table 1) [5]. Although NDM can be diagnosed within the first days of life, hyperglycemia in the neonatal period has many differential diagnoses. Indeed, sepsis, increased parenteral glucose administration, steroids and increased concentrations of counter-regulatory hormones represent typical causes of neonatal hyperglycemia that need to be ruled out [7].
Review of current status of molecular diagnosis and characterization of monogenic diabetes mellitus: a focus on next-generation sequencing
Published in Expert Review of Molecular Diagnostics, 2020
MDM is a subgroup of DM characterized by the presence of genetic anomalies in a single gene. While genetics arguably play a role in the development of other types of diabetes, including type 1 and type 2 DM, in MDM specific mutations in one of the several genes impacting pancreatic beta-cell function or quantity directly contribute to the disease state [9,14]. Based on phenotypic characteristics (including age of onset) MDM can be classified as neonatal diabetes mellitus (NDM), maturity-onset diabetes of the young (MODY), or one of the several rarer diabetes-associated syndromes [4,14]. Neonatal diabetes presents as diabetes in young infants, typically less than 6 months old. It is exceptionally rare, occurring in only 1 of every 100,000 to 200,000 live births [15]. The three most common mutations causing neonatal diabetes in non-consanguineous populations occur in the KCNJ11, ABCC8, and INS genes [2]. The clinical presentation of neonatal diabetes with single-gene mutations in these genes differ. All three mutations present during pregnancy with intrauterine growth restriction (IUGR). Neonatal diabetes can be transient or permanent in cases of KCNJ11 and ABCC8 but is typically permanent in cases with INS mutations. KCNJ11 mutations often lead to developmental delays and the occurrence of seizures. Developmental delays are less frequent, but have also been noted, in cases with ABCC8 mutations [2]. Treatment for patients with KCNJ11 and ABCC8 mutations is similar in that they are responsive to sulphonylureas and if therapy is initiated early enough, potential developmental delays can be mitigated [15]. Patients with INS mutations, conversely, are insulin-dependent [2].
Prediction, diagnosis, prevention and treatment: genetic-led care of patients with diabetes
Published in Expert Review of Precision Medicine and Drug Development, 2021
Watip Tangjittipokin, Nutsakol Borrisut, Patcharapong Rujirawan
The common forms of diabetes (T1DM and T2DM) are polygenic diseases with no single diagnosis genetic test. However, genetic testing plays a crucial role in the diagnosis of monogenic diabetes – both neonatal diabetes and maturity-onset diabetes of the young (MODY). Diagnosis of monogenic diabetes has a major impact on both treatment and the identification of other affected family members. Some forms of MODY are extremely sensitive to a specific treatment, which yields better glycemic control [55]. Moreover, treatment based on the precision diagnosis of MODY and neonatal diabetes by using genetic tests was shown to be more cost-effective [56,57].