childhood progeria
Introduction
Introduction to Pediatric Pregnancy Progeria is a rare metabolic abnormality, developmental disorder and gnome state, accompanied by dysplasia of bones, teeth, nails, hair and fat, characterized by childhood manifestations of the elderly and arteriosclerosis. It was first reported by Hutchinson-Gilford (1886), hence the name Hutchinson-Gilford. basic knowledge The proportion of illness: 0.0035% Susceptible people: children Mode of infection: non-infectious Complications: angina pectoris myocardial infarction kidney stones
Cause
Causes of pediatric premature aging
Causes
The cause is not yet clear.
Probably due to the slowdown of collagen synthesis, the increase of transparent fibers, the extrusion of fat cells, the changes of vascular connective tissue, and ultimately atherosclerosis, mostly sporadic cases, but also the incidence of twins, some people think Genetic factors, the family's genetic pattern is not fully understood, may be related to genetic mutations, and some cases have a history of marriage of parents and close relatives.
The main pathological changes were systemic atherosclerosis, subcutaneous tissue lacking fat and sebaceous glands, and elevated blood lipids.
Prevention
Pediatric premature aging prevention
The etiology and pathogenesis are not yet clear, and there are no reliable preventive measures. It is believed that it is related to genetic mutations, and it is necessary to avoid the marriage of close relatives and avoid the age of parents. It is advisable to have a genetic test before marriage and a prenatal and postnatal checkup. Be careful not to marry close relatives. The sick child generally performs normally within a few months after birth. However, if you look back at the newborn, there are many cases of hard swelling, mild facial cyanosis, and a sharp nose. Pay attention to prevention.
Complication
Pediatric premature complication Complications angina pectoris myocardial infarction kidney stones
Angina, myocardial infarction or cerebrovascular accident can occur, and kidney stones can occur. Blood pressure rises significantly after 5 years of age, and the heart gradually enlarges, sometimes with angina, myocardial infarction or cerebrovascular accident. Kidney stones can also occur and cause acute abdominal pain. The gait is like an old man. When walking, the foot is dragged to the ground and cannot be raised. The skin is thin and dry, wrinkled, and brown age spots appear. The lower abdomen, the proximal thigh and the buttocks are hard and swollen. The superficial blood vessels of the extremities are thick and revealed, especially the radial artery and the dorsal vein of the hand. The voice is sharp and thin.
Symptom
Symptoms of pediatric premature aging common symptoms alopecia premature aging subcutaneous fat disappearance abdominal pain joint stiffness straight around the nose and mouth sputum kidney stones congenital less white head myocardial infarction finger (toe) a fragile soft atrophy
The general performance of the sick child is generally normal within a few months after birth, but if the condition of the newborn is retrospective, there are many cases of hard swelling, mild facial cyanosis, and a sharp nose. The growth and development are slightly worse in the first year, and it is obvious from the second year. Slow, and gradually appear typical face, hair loss, subcutaneous fat disappeared, abnormal posture, joint stiffness, skin and bone changes, but mental and motor function development.
The characteristic change is: body length and body weight are significantly lower than normal, about 10 years old is still the length of children aged 4 to 5 years old, the relative body weight is more obvious than the body length; the subcutaneous fat is gradually thinner, the whole body is thin, and the fat layer of the cheek disappears. Only the subcutaneous fat in the upper part of the pubic bone is left; because the facial bone and the mandible are particularly small, the skull and the forehead are relatively large, and the eyelids are small, so the eyes are prominent, the nose is prominent and pointed; the ear is often deformed, and the ears are erected forward. Lack of earlobe; thin lips, similar to the bird's face; hair loss starts from the occiput, almost all of the time is 3 to 5 years old, the eyebrows and eyelashes can also fall off; the scalp veins are swelled; the milk teeth and the permanent teeth are delayed, and very Early shedding, tooth deformity, normal ratio of limbs to trunk, clavicle hypoplasia, especially short, relatively large and stiff joints, finger flexion, finger, toenail often atrophy, short phalanx, thin and dry skin, wrinkles, brown The plaque of the old man, the lower abdomen, the proximal thigh and the buttocks are hard and swollen, and the superficial blood vessels of the extremities are thick and thick, especially the radial artery and the dorsal vein of the hand are most obvious, and the voice is sharp and thin.
Blood pressure rises obviously after 5 years old, the heart gradually enlarges, sometimes angina pectoris, myocardial infarction or cerebrovascular accident, kidney stones can also cause acute abdominal pain, gait like the elderly, when the foot is dragged to the ground, can not be raised.
Beijing Children's Hospital, Beijing Medical College Pediatrics and Fuwai Hospital and other units have observed 1 case, from the age of 10 to 12 years of age death, autopsy proved systemic atherosclerosis and myocardial infarction, the child looks like the elderly, and the above typical Signs, have tried thiouracil to reduce calorie consumption, and long-term application of testosterone and royal jelly, failed to increase weight.
Examine
Pediatric premature senile examination
In the laboratory examination, serum protein combined with iodine, cholesterol, triglyceride and -lipoprotein were higher than normal, the basal metabolic rate was also high, and the thyroid, adrenal and pituitary functions were not abnormal, and there was an antagonistic effect on insulin. Occasionally insulin-dependent diabetes mellitus, normal response to growth hormone, but the gonads are not developed or sexual development is significantly slow, and DNA repair is also reduced.
X-ray inspection
Bone X-ray examination showed mild decalcification, early metaphyseal and dry healing, early anterior iliac crest, small clavicle or disappeared due to bone decomposition, sometimes not developed at the end of the toe joint, often visible at 2 to 3 years old Hip valgus.
Wang Yiliang et al reported that 6 cases of vertebral body "fish mouth sign" is the characteristics of this disease, the positive lateral X-ray shows that the four corners of the vertebral body have four fish-like depressions similar to the open, especially at the junction of the thoracic and lumbar.
2. ECG examination
Late electrocardiogram showed insufficient coronary blood supply.
Diagnosis
Diagnosis and diagnosis of pediatric premature aging
diagnosis
It is not difficult to diagnose the disease according to the symptoms. Sometimes there is a cyanosis around the nose and mouth, and there is a hardening-like skin change in the groin and the like, which may help early diagnosis.
Differential diagnosis
1. ectodermal dysplasia: is a hereditary disease, lack of hair and toenail abnormalities and premature aging, and can cause high fever in the summer due to lack of sweat glands, but no high blood pressure, weight loss and the appearance of the elderly.
2. Congenital generalized lipodystrophy (Seip-Lawrence syndrome) is a rare disease of unknown cause. In the early stage of the baby, the subcutaneous fat disappears and the muscles grow faster. The face is thin. The chest and arms are also small, but the lower limbs are normal, often accompanied by endocrine diseases such as diabetes, pituitary dysfunction, etc., which are continually inherited recessive inheritance, and lack of treatment.
3.Cockayne syndrome: is an autosomal recessive genetic disease, may have a family history, its subcutaneous fat disappears, sharp nose, ear deformity, short stature and other symptoms are very similar to premature aging, but these manifestations often appear around 4 years old, skin Sensitive to sunlight, and common small pupil, hyperopia, cataract, retinal pigmentation, optic atrophy, neurological deafness, mental retardation, and even large tremors and gait, can be distinguished from premature aging.
4. Werner syndrome: There are also old people's appearance, and short stature in puberty, but the age of onset is relatively late, often around 20 years old, complete hair loss is not common, and accompanied by cataract and retinal degeneration, different from premature aging.
5. Hallermann-Streiff syndrome: There are also dental defects, hair loss, less hair and small jaw and other deformities, but mental retardation, cataract and small eye deformity, can be identified.
6. Congenital skin relaxation: Sometimes it must be differentiated from congenital skin relaxation, which often has skin relaxation and is not seen in premature aging.
