look old
Introduction
Introduction Hutchinson-Gilford Syndrome, also known as childhood premature aging, is a genetic disease, first reported by Hutchinson in 1886. The process of physical aging in patients with premature aging is 5 to 10 times faster than normal. The appearance of the patient is like the elderly, and the organ is also rapidly declining, causing the physiological function to decline. Symptoms include small size, hair loss and longer teeth. Children who suffer from this rare disease, even if they are only 16 years old, look like six or seventy-year-olds. Sick children generally only live to 7 to 20 years old, most of them will die of aging diseases, such as cardiovascular disease, there is no effective treatment at present, only drugs for treatment. Although the disease is a congenital hereditary disease, it is not certain whether it is autosomal recessive or dominant inheritance. The disease is a syndrome characterized by delayed development and progressive senile degenerative changes in infancy.
Cause
Cause
Reasons for the appearance of old age:
Researchers at the Early Sensation Research Foundation announced on June 17, 2004 that mutations in the Lamin A gene are responsible for the gradual degradation of cellular structure and function in children with premature aging. The full name of premature aging is Hutchinson-Gilford Premature Failure Syndrome (HGPS or Progeria). The study was published in the Proceedings of the National Academy of Sciences (PNAS) in mid-June. Premature aging is a rare, fatal genetic disease that has rapidly aging since the beginning of the same year. This study focuses on the importance of the Lamin A gene for cell structure and function maintenance. The protein encoded by the Lamin A gene is a scaffold for cell structure and is also involved in gene expression and DNA replication. The study pointed out that mutations in the Lamin A gene are involved in cell aging in premature aging, probably due to mutations in cell function caused by Lamin A protein, and nuclear membrane instability plays a key role in Hutchinson-Gilford premature aging syndrome. The findings also give scientists a better understanding of heart disease and cell aging that occur in premature aging. About one to four of every eight million newborns have premature aging.
Examine
an examination
Related inspection
Blood routine essential trace element detection urine routine
The appearance of the old diagnosis:
The process of aging of patients is 5 to 10 times faster than normal. The appearance of the patient is like the elderly, and the organs are also rapidly declining, causing the physiological function to decline. Symptoms include small size, hair loss and longer teeth. Based on these, it can be used as a basis for diagnosis.
Diagnosis
Differential diagnosis
Differential diagnosis of appearance:
Short stature, weight loss and disproportionate to height, sexual development is immature. Subcutaneous fat tissue is reduced. The head and face are not proportional, the head occupies a relatively large area, and the face is relatively small. The lower jaw is smaller than normal. The scalp vein is obvious and hair loss is universal. The eye is in the shape of a bird's eye, the tooth development is delayed, the chest is pear-shaped, the collarbone is short and stunted, the posture is saddle-shaped, the width of the two feet is large, and the two legs are dragged while walking, and the hip is everted. The thumb is fine and the joint is permanently strong. The most characteristic clinical manifestations are thinning of the skin, tension, dryness, and wrinkles. Brown spotted pigmentation can be seen in many areas. The skin of the lower abdomen, thighs and buttocks is scleroderma-like. The superficial veins in these areas are marked and sweating is reduced. The eyebrows and eyelashes are absent, and the front door is raised. The tip of the nose is hooked like a cockle. Mild Raynaud's phenomenon in the middle of the face and the nasolabial, thin lips, protruding ear tips and small earlobe, and nutrient malnutrition.
This child is often normal during infancy or has only scleroderma-like symptoms. The cyanosis and hooked nose in the middle of the face often suggest the possibility of this disease. By the age of 1 year, the symptoms became more and more obvious, until the second year showed various characteristic performances. Patients with this disease generally have no abnormalities in the thyroid, parathyroid, pituitary and adrenal glands. However, the basal metabolic rate increased and blood lipids were abnormal. Atherosclerosis can occur in patients with premature aging. Cardiovascular and cerebrovascular lesions often die early.
