Phenylacetonuria
Phenylketonuria (PKU) is an autosomal recessive genetic disease. It is named after the disorder of phenylalanine metabolism in infants and the excretion of a large number of metabolites such as phenylpyruvic acid in urine. Phenylalanine is one of the essential amino acids for human body. After being ingested by food, part of it is used for protein synthesis, and the rest is converted into other substances. Phenylalanine in the baby's body cannot be metabolized normally, but accumulates in the body, causing damage to the central nervous system and a series of pathological changes.
Disease signal
Sick babies will gradually develop nervous system abnormalities, such as black to yellow hair, white skin, shallow iris, increased muscle tension, abnormal gait, slight tremor of hands and repeated movements of limbs. It is particularly noteworthy for parents that the baby's urine has a very unpleasant smell of mouse urine. In addition, the baby is also prone to eczema, vomiting, diarrhea and so on.
In the treatment of low phenylalanine diet, it is necessary to ensure the supply of various nutrients needed for the normal growth and development of infants, and to avoid excessive intake of phenylalanine. Once diagnosed, it should be treated immediately. The earlier the treatment, the better the prognosis.
skill
1. Be sure to strictly control the baby's diet according to the doctor's requirements. Phenylalanine should not be eaten too much or too little. Insufficient supply of phenylalanine can also lead to growth retardation.
2. Adjust your diet regularly. Generally, babies under 1 year-old can adjust their diet once a month, babies over 1 year-old can adjust it once every two months, and school-age children can adjust it once every three to four months.
Breastfeeding under the guidance of a doctor, never stop breastfeeding.
4. Check the concentration of phenylalanine in the baby's blood regularly, and check the baby's physical development and intellectual development every 6 months to 1 year.
5. The treatment should be at least mature in adolescence, preferably for life.
6. When the female PKU baby reaches the reproductive age, it is necessary to strictly control the diet and monitor the blood phenylalanine concentration in the first half of pregnancy until delivery, so as not to affect the development of the fetal nervous system.
7. The prevention method of phenylketonuria is to avoid inbreeding; Couples with PKU babies should have genetic tests on both husband and wife before they get pregnant again, and the fetus should also have genetic tests after pregnancy.
hypothyroidism
Hypothyroidism (CH) is a congenital factor that reduces the secretion of thyroid hormone, leading to infant growth retardation and mental retardation.
Disease signal
Newborns: mainly manifested as inactivity, crying, poor reaction, love to sleep, low muscle tone, in addition to feeding difficulties, abdominal distension, constipation, physiological jaundice for a long time, low body temperature.
After 3 months, the following performance gradually appeared.
Features: bloated face, wide eye distance, flat nose, large and generous tongue sticking out of mouth, and dry hair.
Special posture: short stature, upper body larger than lower body, big head and short neck.
Special stance, walking posture: Protrusion of waist, slightly bending knees, walking posture, swinging.
Special development: the baby looks up, sits, walks, tiptoes late, the front fontanel closes late, and is mentally retarded.
The treatment of this disease is very simple, just give the baby thyroxine.
skill
1. Early treatment can prevent children from being disabled.
2. We must insist on long-term cooperation in treatment, and we cannot increase or decrease the dose or interrupt treatment by ourselves.
There is no effective preventive measure for this disease. Therefore, early detection, early treatment and long-term persistence are very important.
Link:
In some areas, different screening programs for neonatal diseases have been added. For example, Shanghai has increased screening for two diseases: congenital adrenal hyperplasia and glucose -6- phosphate dehydrogenase deficiency.
congenital adrenal hyperplasia
Also known as adrenogenital syndrome or adrenal abnormality. It is mainly due to the deficiency of enzymes necessary for the biosynthesis of adrenocortical hormone, which leads to the abnormal synthesis of adrenocortical hormone Therefore, there are different degrees of adrenocortical dysfunction in clinic, with masculinity in girls and precocious puberty in boys. In addition, there may be many syndromes such as hyponatremia or hypertension. Hydrocortisone or prednisone should be used as soon as possible in treatment; Should adhere to lifelong medication or surgical treatment.
glucose-6-phosphate dehydrogenase deficiency
It is a hereditary metabolic defect, which is X-incomplete dominant inheritance, and the incidence rate of males is higher than that of females. Because there are many variants of G6PD deficiency, the clinical manifestations are very different, ranging from asymptomatic to severe, which can be manifested as congenital non-spherical red blood cell hemolytic anemia, usually manifested as acute hemolysis induced by taking certain drugs and broad beans or infection, and even life-threatening in severe cases. The emphasis of this disease is prevention. After diagnosis, patients should fast broad beans and prohibit taking certain drugs.