Diagnosis and treatment of pediatric endocrine genetic metabolic diseases

With the economic development and social progress of the whole population, the previous infectious, infectious and nutritional diseases have been gradually controlled, and the composition ratio of non-infectious diseases has been increasing year by year, especially the diseases of pediatric endocrine genetic metabolic system are getting more and more attention from the society, parents, children and pediatricians. In recent years, the pediatric disease spectrum has changed with the economic development and social progress of the whole population. Infectious, infectious and nutritional diseases are gradually under control, and the composition ratio of non-infectious diseases is increasing year by year, especially pediatric endocrine genetic metabolic system diseases are getting more and more attention from the society, parents, children and pediatricians. Dwarfism, precocious puberty, obesity, childhood diabetes, and congenital hypothyroidism are the most common pediatric endocrine diseases in clinical practice today. Hazards of pediatric endocrine diseases: Endocrinology is very much related to children’s growth, development, maintaining metabolic stability, and coordinating the life processes of the human body, so endocrine diseases related to children’s height, sexual development, and obesity are getting more and more attention, and the occurrence of these diseases is closely related to genetic factors, environmental factors, and lifestyle. If left untreated, these diseases can have many adverse effects on the physical development, psychological development, further education, employment and marriage of the affected children. Symptoms of pediatric endocrine disorders: Short stature: Growth hormone deficiency is most common, and height below 2 standard deviations or below the 3rd percentile of the average height of normal children of the same age and sex is called childhood dwarfism. less than 4 to 5 cm of growth per year from age 3 to prepubertal development should also be a cause for concern. In addition, treatment with growth hormone is effective in idiopathic dwarfism, less than fetal age children, and Turner syndrome, and must be tested regularly by a pediatric endocrinologist during treatment to ensure safety and effectiveness. Precocious puberty: Precocious puberty is the appearance of secondary sexual characteristics in girls before the age of 8, or the first menstruation before the age of 10; in boys, secondary sexual characteristics appear before the age of 9, i.e. breast development, pubic hair, axillary hair, rapid growth in height and weight, and development of external genitalia. Children with precocious puberty must be evaluated by an endocrinologist for sexual characteristics, bone age determination, sex hormone testing and corresponding stimulation tests, ultrasound examination of sexual organs, and necessary imaging examinations to treat the cause. Congenital hypothyroidism is a syndrome caused by different congenital disorders involving the hypothalamic-pituitary-thyroid axis. About 90% of these disorders are due to thyroid gland developmental disorders, resulting in a lack of thyroid hormones, or due to thyroid receptor defects. It used to be called cretinism or Crohn’s disease. There may be peculiar facial and physical appearance, delayed motor development, low intellectual development and low physiological function, which can be treated symptomatically and with thyroid hormone replacement therapy, with good results. The two most common thyroid problems in children are Hashimoto’s thyroiditis and Graves’ disease, both of which are treated with medications that are used for a longer period of time to keep the thyroid function in a normal state. Obesity and metabolic syndrome: Childhood obesity has become a worldwide public health problem, and China is no exception. According to the statistics, 30% of children with heavy obesity have fatty liver and 30 to 50% of children with fatty liver have abnormal liver function; 80 to 90% of children with heavy obesity have high fasting glucose and 10 to 20% of them are diagnosed as children with type 2 diabetes (obese). About 85% to 90% of children have metabolic disorders. About 80% of children’s obesity will be extended to adults, is the adult occurrence of hyperlipidemia, hypertension, coronary heart disease, diabetes, fatty liver cirrhosis and a series of important risk factors, therefore, the prevention and treatment of obese children should attract the high attention of society and families. Obese children, especially those with skin manifestations of acanthosis nigricans, should be examined as early as possible. Diabetes mellitus in children Pediatric diabetes mellitus starts rapidly and is usually diagnosed within 3 months. In infants with diabetes, polydipsia and polyuria are difficult to detect. In young children, sudden enuresis may occur due to excessive nocturia, which may be overlooked by parents because enuresis is quite common at an early age. At the pediatric enuresis specialist clinic, routine urine tests are mandatory for children who wet the bed in order to screen out diabetes in children hidden in the “enuresis”. The fatal risk of pediatric diabetes is ketoacidosis, not the long-term complications of microangiopathy (eye, heart, kidney and nervous system damage due to microangiopathy). The younger the child is, the higher the incidence of ketoacidosis. Ketoacidosis is often characterized by polyuria, vomiting, abdominal pain, severe dehydration, dullness and even the development of coma. Prevention of pediatric endocrine diseases: Let children develop a good lifestyle and form regular habits. Ensure adequate nutrition and sleep, and eat more high-protein and vitamin foods such as cereals and fresh fruits and vegetables. Avoid overexertion and excitement, and keep a happy spirit so as not to affect the endocrine system with bad emotions. Prevent infection. Treatment of pediatric endocrine diseases: With the development of various medical technologies, more and more pediatric endocrine diseases are recognized and treatable, and they are getting more and more attention from the society, parents, children and pediatricians, but the diagnosis and treatment of pediatric endocrine diseases are highly specialized, so we should see a specialist endocrinologist for such diseases. Genetic metabolic diseases are caused by genetic defects in the biosynthesis of certain enzymes, receptors, carriers and membrane pumps that are necessary for the normal metabolism of the body, i.e. mutations in the genes encoding these peptides (proteins). Most of them are single gene genetic diseases, including metabolic macromolecular diseases: including lysosomal storage disorders (more than thirty diseases), mitochondrial diseases, etc., and metabolic small molecule diseases: amino acids, organic acids, fatty acids, etc. Genetic metabolic diseases are partly caused by genetic inheritance and partly by acquired genetic mutations, and their onset is not only in newborns, but covers the whole age range. More than 500 diseases have been identified, including Gaucher’s disease, Fabry disease, phenylketonuria, methylmalonic acidemia and other diseases with strange and unusual names. The common clinical manifestations of genetic metabolic diseases include: neurological abnormalities, metabolic acidosis and ketosis, severe vomiting, hepatomegaly or hepatic insufficiency, peculiar odor, strange appearance, skin and hair abnormalities, eye abnormalities, deafness, etc. Most genetic metabolic diseases are accompanied by neurological abnormalities, and those with neonatal onset may manifest as acute encephalopathy, resulting in serious complications such as dementia, cerebral palsy, or even coma and death. Each genetic metabolic disease is rare or uncommon, and many people have never heard of these diseases, but the cumulative prevalence of these diseases is high and extremely dangerous. These diseases can cause damage to any organ or system in the body, but are treatable and manageable with appropriate measures. They often have no particular clinical manifestations during the neonatal period and are easily overlooked by parents, while the rarity of the cases makes them easy to misdiagnose or difficult to confirm by doctors. However, once the abnormality appears, the damage to the child’s body and intelligence is irreversible, and a significant number of children die before diagnosis and treatment, or suffer from lifelong intellectual and physical disabilities due to delayed treatment.