When a small life is still in the belly of a mother, a potential health challenge — congenital diabetes — is being faced. This type of diabetes is usually diagnosed during foetal or infant life and becomes a “sweet” burden on children and family life. Congenital diabetes, although rare, has far-reaching effects. Understanding the characteristics, causes, symptoms and methods of management of the disease helps parents and doctors to protect their children ‘ s health and help them to thrive.
I. What is congenital diabetes?
Congenital diabetes refers to the type of diabetes diagnosed during the foetal period or early after birth (usually within six months). The two most common types are neonatal diabetes (NDM) and adult diabetes (MODY) among adolescents. While both types of diabetes fall within the context of congenital diabetes, their causes and characteristics vary.
Neonatal diabetes (NDM):
Usually diagnosed within six months of the birth, a very rare type of diabetes with a prevalence rate of about 1 per 100,000 births.
The causes of the disease are mostly single-genetic mutations, most commonly those of KCNJ11 and ABCC8, which affect the distribution of insulin.
Adult diabetes (MODY) among adolescents:
It is a single-genetic diabetes that is usually diagnosed in adolescence but may also occur early in adulthood.
Patients are specific genetic mutations, such as HNF1A, GCK, which affect the function of β cells in insulin.
II. Causes of congenital diabetes
The causes of congenital diabetes are mainly related to single-genetic mutations, which may be derived from parental genetics or spontaneous in embryon development.
Genetic mutation:
KCNJ11 and ABCC8 gene mutations: These mutations affect the potassium ion channel of β-cells in insulin, leading to abnormal insulin insulin and, consequently, to diabetes in newborns.
HNF1A and GCK gene mutations: these mutations affect the function of β-cells insulin, leading to insulin insufficiency, triggering MODY.
Genetic factors:
Congenital diabetes is usually family genetic, and the risk of a child becoming ill increases significantly if parents have a similar history of disease.
The mutation in embryo development:
In embryonic development, spontaneous mutations of certain genes may also lead to congenital diabetes.
III. Symptoms of congenital diabetes
Symptoms of congenital diabetes usually occur during the foetal or infant life, but are easily overlooked because of their atypical symptoms. Knowledge of these symptoms contributes to early detection and diagnosis.
Symptoms of neonatal diabetes:
High blood sugar: The emergence of high blood sugar in newborns can lead to symptoms such as excessive urine, drinking and weight loss.
ketone acidic poisoning: due to insulin insufficiency, the newborn is likely to suffer from ketoneic acid poisoning, as manifested by rapid breathing, nausea, vomiting, etc.
Slow growth: High blood sugar conditions may affect the growth and development of newborns and lead to slow body weight growth.
Mody’s symptoms:
Slightly high blood sugar: MODY patients are usually shown to be mildly high blood sugar, with less visible symptoms and easy to ignore.
Family history: MODY patients usually have a family genetic history, and similar symptoms of diabetes may occur among parents or siblings.
IV. Diagnosis and screening of congenital diabetes
Since the symptoms of congenital diabetes are not typical, early diagnosis and screening are important. The following are common diagnostic methods:
Blood sugar monitoring:
Neonatal screening: After the birth of the newborn, high blood sugar symptoms can be detected at an early stage through blood sugar surveillance and early diagnosis of congenital diabetes.
Family monitoring: regular blood sugar surveillance of families with family genetic history, which facilitates early detection of MODY.
Genetic testing:
Genetic mutation screening: genetic testing allows for the detection of specific genetic mutations that lead to congenital diabetes, clear diagnosis and guidance for treatment.
Utility test:
For children with suspected ketoneic acid poisoning, urine test can help to clearly diagnose.
V. Management and treatment of congenital diabetes
Congenital diabetes, although a life-long disease, through scientific management and treatment, allows children to grow healthy and lead normal lives.
Insulin treatment:
Neonatal diabetes: Due to insulin insufficiency, neonatal diabetes usually requires long-term insulin treatment to help control blood sugar levels.
MODY: Some MODY patients may need insulin treatment, but oral sugar can also be effectively controlled in some cases.
Research on gene therapy:
As medicine advances, genetic treatment becomes a new direction for the treatment of congenital diabetes. Researchers are exploring the use of gene-editing techniques to repair genetic mutations that lead to diabetes, in order to cure congenital diabetes.
Neonatal diabetes
