Hereditary angioedema in children
Introduction
Introduction to pediatric hereditary angioedema Some regulatory proteins in plasma regulate the activity of the complement system. Their defects can produce corresponding clinical symptoms. Defects in the C1 inhibitor (C1INH) can lead to hereditary angioedema, and in 85% of patients, the C1INH concentration is reduced to 5% to 30% of normal (type I). Another 15% of patients had normal or elevated levels of C1INH immunoreactive protein in the plasma, but no function (type II). basic knowledge Proportion of the disease: a family history, the overall incidence rate is about 0.0001% Susceptible people: children Mode of infection: non-infectious Complications: laryngeal edema, intestinal fistula, headache, hemiplegia
Cause
Pediatric hereditary angioedema etiology
Causes:
For autosomal dominant inheritance, C1 INH mRNA transcription is inhibited (type I), and serum C1 INH concentration is decreased; in other patients, arginine is cleaved in the key reaction region of C1 INH, and normal or elevated levels of C1 INH are present in plasma. However, there is no function (type II), and a few probands are spontaneous mutations.
Pathogenesis:
Decreased C1 INH concentration and C1 INH functional defects cause C1 activation leading to uncontrolled C1s, C4 and C2 activation, release of vasoactive peptides and kinins, and bradykinin also increased due to vasodilatation of kinins to posterior capillaries , resulting in seizures, limitations, typical non-depressed edema, the mechanism of C1 activation in these individuals is unclear.
Prevention
Pediatric hereditary angioedema prevention
Pregnant woman health care
It is known that the occurrence of some immunodeficiency diseases is closely related to embryonic dysplasia. If pregnant women are exposed to radiation, receive certain chemical treatments or develop viral infections (especially rubella virus infections), they can damage the fetal immune system. Especially in the early pregnancy, it can affect multiple systems including the immune system. Therefore, it is very important to strengthen the health care of pregnant women, especially in the early pregnancy. Pregnant women should avoid receiving radiation, use some chemical drugs with caution, and inject rubella vaccine to prevent as much as possible. Virus infection, but also to strengthen the nutrition of pregnant women, timely treatment of some chronic diseases.
2. Genetic counseling and family survey
Although most diseases cannot determine the genetic pattern, genetic counseling for diseases with defined genetic patterns is valuable if genetically immunodeficiency in adults would provide the developmental risk of their children. If a child has an autosomal recessive or sexually linked immunodeficiency disease, tell parents that they are more likely to have a disease in their next child. For immediate family members of patients with antibodies or complement deficiency, antibodies and complement should be examined. Level to determine the family's disease pattern. For some diseases that can be genetically mapped, such as chronic granulomatosis, parents, siblings and their children should be tested for localization. If a patient is found, it should be in him. The family members of her) are examined and the child's children should be carefully observed at the beginning of their birth for any disease.
Complication
Pediatric hereditary angioedema complications Complications, laryngeal edema, intestinal fistula, headache, hemiplegia
It can be complicated by intestinal fistula, and fatal laryngeal edema can also occur. Acquired angioedema can cause severe laryngeal edema can cause difficulty breathing or even suffocation. Angioedema can cause edema of the brain, causing headache, hemiplegia, epileptic seizures and other central nervous symptoms, hereditary angioedema such as digestive tract involvement. Abdominal cramps and watery diarrhea, occasional edema in the throat or throat, muscles, bladder, uterus and lungs.
Symptom
Pediatric hereditary angioedema symptoms common symptoms diarrhea pre-pressure edema laryngeal edema edema intestinal tract edema thickening itching
Paroxysmal subcutaneous tissue, localized edema of the gastrointestinal tract and upper respiratory tract, non-depressed, rapidly swollen affected area, no urticaria, itching, redness of the skin, generally no pain, edema can also occur after severe exercise In the site, due to swelling of the intestinal wall, intestinal fistula, vomiting or diarrhea, subcutaneous edema is less common, and fatal laryngeal edema can also occur. The onset lasts for 2 to 3 days, then gradually subsides, and can occur in the first 2 years after birth. But it is usually severe in older children or in adolescence.
Examine
Examination of pediatric hereditary angioedema
If necessary, do chest X-ray examination.
General routine examination showed no abnormal findings. In patients with hereditary angioedema, serum C1 esterase inhibitors, serum C1 and C4 values were found in serological tests. Some patients with acquired angioedema were found to have serum C1 esters by serological examination. Enzyme inhibitors, C1, C2 and C4 values decreased, especially at the time of onset, when the gastrointestinal tract was timely, the white blood cell count increased, up to (16 ~ 20) × 109 / L. Because C1 has an esterase effect, it can specifically diagnose C1 INH defects by measuring the ability of the patient's serum to hydrolyze esters.
Diagnosis
Diagnosis and differential diagnosis of pediatric hereditary angioedema
According to the clinical manifestations and laboratory characteristics, the C1 INH defect is a specific diagnostic indicator.
Some SLE patients with hereditary angioedema should be identified; differential laryngeal edema is differentiated from acute laryngitis; intestinal fistula is differentiated from acute abdomen. The disease sometimes needs to be differentiated from other types of edema of the skin, such as contact dermatitis in the eyelids, which may resemble angioedema in the early stage, but soon there will be papular, blisters and scars such as acne, due to insect bites, thorns. Acute wheal-like reactions caused by sputum or secondary cellulitis, in addition to local swelling, there are redness, fever and tenderness to identify.
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