2010年8月7日星期六

Progeria

Progeria




Abstract correcting edit summary

Progeria (children progeria) is a genetic disease, the aging process the body faster than normal 5 to 10 times the faces of patients like the elderly, the organs will soon decline, resulting in decreased physiological function. Symptoms include small stature, hair loss and late teeth. Children suffering from this rare disease, even if only 16 years old, but looks like 67-year-old elderly. Sick children generally only live to be 7 to 20 years of age, most will die of diseases of aging, such as cardiovascular disease, as there is no effective treatment, rely on drugs for the treatment.

Progeria - Disease Profile

Progeria

Progeria (Hutchinson-Gilford Syndrome), also known as progeria, is a genetic disease, Hutchinson first reported in 1886. Although this disease is a congenital genetic disease, but not sure is an autosomal recessive or dominant inheritance. This disease is a syndrome characterized by developmental delay, to place a baby on the conduct of senile degeneration.

Progeria - Disease overview

The full name of early aging progeria syndrome (Hutchinson-Gilford Progeria syndrome), is an extremely rare congenital genetic disease, the body's aging process of their patients very quickly. Children suffering from the disease rarely more than 13 years of age, about one in eight million newborns have a get into this disorder. Although progeria is a hereditary disease, but very sporadic and seldom occurred among the family inherited.

Children progeria children is a particularly rare genetic disease that can lead to dramatic premature aging and aging of children. 8 million newborns worldwide each have one. The most severe form of this disease is that He Qisen - Guilford progeria children, this is Jonathan Dr. He Qisen and black , Dr. Crawford found. Dr. He Qisen in 1886 first described this disease, Dr. Guildford discovered the disease in 1904.



Progeria as a newborn child have at birth are usually normal. However, within a year, their growth slowed down, and soon after, their child should be shorter than the other normal kids, good to be light weight. Although with normal intelligence, but the hair is alopecia areata, loose skin folds, teeth, flat nose reduction, face and chin too small, and the disproportionate size of his head and sunken eyes, cheeks and arms in the distribution of the gleaming skin senile plaques, the whole like a 80-year-old. They also have a variety of elderly people suffering from old age diseases, such as joint stiffness, hip dislocations and severe cardiovascular disease. However, with normal aging-related cataracts and other diseases such as osteoarthritis, in children with progeria will not occur.

Progeria - disease status

Children, children with progeria his body aging faster than the normal aging process, 5 to 10 times faster, to appearance such as the elderly. Body organs of patients have rapid aging, causing a variety of physiological functions decline. Progeria patients more prone to symptoms include: hair loss, delayed teeth, short stature, and the decrease in subcutaneous fat, but the child's mental age is no different from most children with their peers. Experts point out that children usually only live to be 7 to 20 years old, and most patients die of cardiovascular diseases of aging. There is no effective treatment method of progeria.

Progeria - symptoms and signs

Early symptoms of progeria include growth retardation, localized scleroderma symptoms. When the patient had a childhood, the other symptoms will become more apparent.

Unique appearance: short stature, and weight loss and height out of proportion, immature sexual development. Subcutaneous adipose tissue reduction. Out of proportion to the head and face, head and share a large area, while the face is relatively small. Smaller than normal jaw. Scalp vein obviously, alopecia was universal. Eyes were like a bird eye shape, tooth development delay was pear-shaped chest, short clavicle dysplasia, was riding posture form, separate feet wide, dragging his feet when walking, hip valgus. Thumb small, permanent joint stiffness most characteristic clinical manifestations of skin thinning, stress, dry, fold.

Brown spots can be seen in many parts of pigmentation. Lower abdomen, thighs and buttocks were scleroderma-like skin manifestations. These parts of the superficial veins were, sweating decreased. Absence of eyebrows and eyelashes, the former fontanelle bulge. Tip of the nose was hooked like a beak. Surface in the central and mild Raynaud's phenomenon lip nose, lips thin, protruding tip, while the lobe small, nail dystrophy. Such children are often normal in infancy, or only a scleroderma-like symptoms. Midfacial cyanosis and hooked nose often suggest a possibility of this disease. To 1 year old more obvious symptoms until the second year showed a variety of characteristic features. The patients are generally not the thyroid, parathyroid, pituitary and adrenal gland's abnormality. However, increased basal metabolic rate, abnormal blood lipid

Such children are often normal in infancy, or only a scleroderma-like symptoms. Midfacial cyanosis and hooked nose often suggest a possibility of this disease. To 1 year old more obvious symptoms until the second year showed a variety of characteristic features. The patients are generally not the thyroid, parathyroid, pituitary and adrenal gland's abnormality. However, increased basal metabolic rate, abnormal blood lipids. Progeria patients with atherosclerosis can occur. Due to cardiovascular and cerebrovascular disease often die early. "Arteriosclerosis" is a common symptom in patients with progeria. In progeria patients, high blood fat problems are caused by low-density lipoprotein cholesterol increased and blood caused by an increase. The problem of atherosclerosis in progeria patients each Accepts all

See. According to the clinical findings, the scientists speculate, and fatty acid transport and oxidation-related gene expression may also lead to premature aging disease as possible causes.

Progeria - was found

Progeria was first discovered in 1886, but a hundred years, scientists on the pathogenesis of this strange disease had been puzzled. U.S. National Human Genome Research Institute led by Francis Collins, director of research shows that the first pair of chromosomes of human LMNA (Lamin A) gene mutations may lead to the most common cause of progeria. Dr. Collins on 20 children suffering from progeria research, results found that 18 of the "Lamin A" genetic code occurred in a single point mutation, a cytosine (C) of the local have been incorrectly "written" into the thymine (T), the result produced less 50 amino acids Lamin A. Lamin A is to support the structure of membrane proteins, the nucleus of patients with premature membrane half of deformity. LMNA mutations are also some muscle and some diseases, such as shrinking in diagnoses.

Progeria - Causes

Progeria

Unlike other accelerated aging diseases, such as Werner syndrome, Cockayne syndrome, or color of dry skin syndrome, progeria is not defective DNA repair process has caused. Because these "accelerated aging diseases" shows the various aspects of aging, but not every face. They are often called "part of progeria."

Progeria research foundation of research on June 17, 2004 announcement, Lamin A gene mutation is the cause of progeria children, cell structure and function of gradual degradation. Premature aging disease called Hutchinson-Gilford all progeria syndrome (HGPS or Progeria). The study is published in the June mid-Proceedings of the National Academy of Sciences (PNAS) in.

Progeria is a rare, fatal genetic disease in the same year since the beginning of rapid aging. This study will focus on the Lamin A gene for the cell structure and function of the importance of maintenance. Lamin A gene encoding the protein responsible for cell structure of the scaffold is also involved in gene expression and DNA replication. The study pointed out, Lamin A gene mutation and premature cell aging, disease, may be due to Lamin A mutant protein leads to cell function, the instability of the nuclear membrane in Hutchinson-Gilford progeria syndrome play a key role. The study results also enable scientists to learn more about progeria cells occurred in heart disease and aging. Approximately every eight million births, 1-4 progeria.

Mutations cause this strange disease

In 2003, the U.S. National Human Genome Research Institute (NHGRI), children progeria research foundation, New York University and the University of Michigan researchers found that the He Qisen - Guilford progeria children is small by a single gene mutation caused . They found that children progeria is not a genetic actions, but one of the body called LMNA (Lamin A) gene mutations cause the protein. LMNA is mainly responsible for the link between the cell nucleus, a mutation, but it will make the nucleus unstable state, accelerating human development and aging, the rate equivalent to 8 times normal speed, resulting in premature aging.

Research team leader Dr. Francis Collins: "I now declare that this independent gene (LMNA) now can be copied into 7 different genes, gene mutations are usually the result depends on the occurrence of gene mutations. Also That is the location of different gene mutations will lead to people suffering from different diseases, such as muscular dystrophy, fat metabolism disorders, primary myocardial disease, and neurological and other diseases, all of which may arise because of gene mutation, we are concerned this gene cause progeria children is very special, because it (LMNA) gene direct impact on the link, (its mutation) will have a significant impact on the human body. "

LMNA gene, lamin A and lamin C two kinds of protein coding, He Qisen - Guildford progeria children LMNA mutations lead to abnormal lamin A protein produced, resulting in nuclear membrane instability, easy to tissues and organs of the body due to strong forces were injured, such as the cardiovascular and musculoskeletal systems.

Children progeria is a rare disorder of children's diseases, serious bodily functions. What causes premature children, the incidence of disease has long plagued this issue since the medical profession, There are no effective treatment for progeria children. Children with progeria  "They found the genes that cause us the news, really exciting, because we will likely be cured, died of cardiovascular disease or atherosclerosis in patients with premature children, their The average age is usually 13 years of age. progeria children, the discovery of disease genes will not only help scientists find the earliest possible treatment for progeria children, will help scientists in-depth study of human aging process and the many problems of cardiovascular disease .

Progeria - Pathophysiology

Appearance of normal skin generally do not pathological changes. Scleroderma-like skin to skin atrophy with inflammatory changes, shrinking the sebaceous glands, sweat glands normal, dermal thickness, tissue can be inserted into the subcutaneous tissue. The upper part of the normal dermal connective tissue, and connective tissue was significantly lower hyaline degeneration, subcutaneous tissue to reduce, or even absent. Atherosclerotic heart can see changes in myocardium and myocardial interstitial fibrosis and focal necrosis in. Can be seen in many organs of lipofuscin pigment deposition in the cell.

Progeria - diagnostic tests

Progeria

Premature diagnosis is based on the symptoms, such as skin changes and hair loss dysplasia. The diagnosis can be confirmed by the genetic test.



Clinical manifestations: The patient's appearance and growth of records is very important diagnosis. Progeria children, in addition to the problems of growth retardation, the most common presentations are as follows.



The typical bird-shaped head, and is bald.

Short stature, underweight.

Thin limbs and joints become apparent.

Subcutaneous fat reduction.

Pear-shaped chest, and clavicle short.

Blue veins prominent.

Progeria - Detection

Laboratory examination: General no abnormal changes, sometimes accompanied by increased serum cholesterol and lipoprotein abnormalities, 2h postprandial serum glycerol and fatty acids in check is normal. Experimental studies have shown that adipose tissue release of free fatty acids in normal urine glucuronic acid) excretion were normal. Villee so that the main abnormality of this disease and some structural proteins such as collagen, actin, myosin, and the metabolism and synthesis of keratin disorders.

Clinical laboratory tests: urine hyaluronic acid values will increase the value of regular blood fats abnormal. However, this examination for the diagnosis of some little help.

X-ray examination: patients 1 to 2 years old that will find the skull, chest, long bones and phalanges will change, also have osteoporosis, and the phenomenon of lack of soft tissue.

Gene Mutation Analysis: progeria research foundation has developed a "Diagnostic Testing Program", through this system to understand genetic change or mutation has occurred.

Progeria - treatment

Progeria

Progeria treatments there is no one proved to be effective. Most of the treatment focused on reducing complications such as coronary artery bypass surgery or low-dose aspirin. Patients may also benefit from high-calorie diet.



Growth hormone therapy (Growth hormone treatment) also was tried.



Green enol bacteria transfer inhibitors (Farnesyltransferase inhibitor, an anticancer drug) has been proposed for the treatment, but its use is limited to the current most of the animals. One use of such inhibitors Lonafarnib II clinical trial started in May 2007.



If endocrine dysfunction, should be the appropriate complementary treatment; lipids and atherosclerosis in high-performance, shall limit the amount of dietary fat, due to anti-atherosclerosis drugs. Dry skin can harden Oral niacin, vitamin E, vitamin B family, oral tablets or intravenous Salvia miltiorrhiza fluid. Some developmental abnormalities, can be surgically corrected. In short, mainly of the disease to symptomatic treatment, there is no specific treatment method.

Progeria - mitigation measures

According to "Science Daily" Web site reported on the 5th, a new study that small family medicine cabinet standing of vitamin C may be able to treat disorders of aging may be accelerated, especially in adult progeria (Werner's syndrome), the study, published In January 2010 the "Federation of American Societies for Experimental Biology Journal" on.

Canadian research groups in this research report that vitamin C to prevent premature aging and even reverse the disease of adult rats suffering from accelerated aging process, but the findings may also apply to other progeria. People with adult progeria, from the 20-year-old began to show signs of accelerated aging, the age of 50 before the formation of senile diseases, they usually die before the age of 50. Paper co-author of the 迈克勒贝尔 Quebec, Canada, said: "Our research clearly shows that no biological or health of sick individuals, not by taking a lot of vitamin C to extend life, especially when they have a balanced diet, and regular exercise time. When an individual has a biological or WRN gene variants, or any of the genes affected by the WRN protein, they tend to suffer from old age diseases, these people take a certain amount of vitamin C will give health benefits. "

Scientists to bring in a healthy mice and can lead to adult progeria (WRN gene) gene mutation in mice drinking water by adding vitamin C. During treatment, mice carrying WRN gene mutation more fat, diabetes and heart disease and cancer will be gradually formed. After treatment, mice carrying mutant gene with normal mice become as healthy, term life to normal. Vitamin C also promotes mouse storage and ability to burn fat, reduce inflammation, and reduce the WRN gene in mice carrying the oxidative stress. Healthy rats did not show signs of benefit from vitamin C. "Federation of American Societies for Experimental Biology Journal," the editor 杰拉尔德威 Waxman said: "Vitamin C has become our medicine cabinet and the food was the most misunderstood substances, the study and other similar studies will help explained that the chemical is how to help some people but not all prevention failure, and to help them prevent premature aging of the cause. "[1]

Progeria - Clinical Case

According to reports, now 7-year-old Ai Chanti Elliott Smith, who is near the city of Brighton, when she was born in May 2003, the weight of 2.55 kilograms, she looks like a normal and healthy baby.

However, when Ai Chanti 3 weeks after birth, her body suddenly began to cramp, the parents sent her to hospital quickly, doctors conducted a series of Ai Chanti medical testing, but did not identify her with any problems. But in the next few months, Ai Chanti's condition began to worsen, and even further up. Ai Chanti until a birthday, the London Great Ormond Street Children's Hospital experts Ai Chanti was diagnosed suffering from a rare "哈钦森吉尔 Crawford premature aging syndrome." Phoebe recalls her mother: "I was surprised to spot syncope in the past. When I regained consciousness, the doctor told me that we need the same care as the care of a grandmother Ai Chanti."

Doctors said the premature aging disease is usually caused by a genetic defect, but not necessarily genetic, Ai Chanti Lou 4-year-old sister, Brandy would not suffer from progeria. Children "progeria" can be quite rare, even worldwide, only 52 are currently known to have progeria patients, and Ai Chanti is the only UK one of the two progeria patients. Children with progeria usually appear normal at birth, but about one year old will accelerate aging, and appear bald, arthritis, hardening of the arteries, heart disease and other geriatric problems.

In the past few years, the AI Chanti to 8 times faster than the average speed of rapid aging. Although Ai Chanti now only 7 years old, but her appearance seems to have retired as a woman late 6.

According to the British Medical experts said the Ai Chanti age of 10, her body will be like a senile old woman late 8. However, the brave Ai Chanti has been unyielding in the fight against disease and premature aging, even as she, like other children her age to a mainstream school to school. However, average life expectancy of patients with premature aging up to only 13 years old, so Ai Chanti's life has begun to enter the "countdown", and her parents even give up their jobs to accompany and take care of her special home, and daughter get along with all every day as a gift of God.

Progeria - Related Information

"Progeria" marriage of girls and boys spend few time

Aged 18-year-old British girl Amy Hughes and the 17-year-old American boy is a juvenile 尼克贾米尼 special couple. Heartbreak is both suffering from a rare premature aging syndrome - Cockayne syndrome, although they are not 20 years old, but their bodies have been like six or seven-year-old elderly. They probably could not live more than 20 years old! However, although they can not with getting older, but they have vowed life and death, dependency, Nick has to Amy in a formal marriage proposal last summer, this summer they plan to hold a romantic wedding, husband and wife in this life. However, according to medical experts said they may not even live up to this summer to participate in their dream wedding!

Aged 18-year-old British girl Amy Hughes and the 17-year-old American boy is a juvenile 尼克贾米尼 special couple. Heartbreak is both suffering from a rare premature aging syndrome - Cockayne syndrome, although they are not 20 years old, but their bodies have been like six or seven-year-old elderly. They probably could not live more than 20 years old! However, although they can not with getting older, but they have vowed life and death, dependency, Nick has to Amy in a formal marriage proposal last summer, this summer they plan to hold a romantic wedding, husband and wife in this life. However, according to medical experts said they may not even live up to this summer to participate in their dream wedding!

The body of 70-year-old young girls

According to Amy's mother Jenny, 43, said Amy was a doctor before its 15th birthday diagnosed with a rare Cockayne syndrome, but before that, she appeared in a series of unexplained symptoms . Mother Jenny said: "Amy is a premature birth, her birth appearance was surprisingly 小. When she was 14 months old in her body weight is still only 5.4 kg, which made me Rest is, even now, she The height also is still only 8 years old body. "

Because growth retardation, Amy was on the school children of a cognitive impairment, but not until 11 years old, her condition began deteriorating rapidly. Jenny said: "She suddenly began to lose sense of balance to walk, often falls to the ground, but we are they do not know why. Her knees began to bend like the same old, then she, like butter, Parkinson's disease began to hands and feet trembling. She was so severe jitter, so that she could not feed their own hands to eat. "3 years ago, the British doctor finally diagnosed Amy suffered a rare" Cockayne syndrome. "

Misery loves love across the ocean

In 2006, when the 14-year-old Amy, followed his family to Boston to participate in a medical conference held there when Amy actually met at the meeting to another with the same "Cockayne syndrome" American boy - Nick was only 13 years old. Probably suffered the same fate, these two unfortunate boys and girls actually love at first sight. Amy told reporters: "I saw him liked him immediately because he is so funny, always makes me laugh." Nick said: "Amy and I absolutely love at first sight, when I first see to her, my eyes no longer can not do without her. "

When Amy returned to the UK, which the young couple fall in love almost every day to communicate by phone and network, in addition, Amy often with their families to vacation in Dallas, and Nick to be able to meet. They even spend Christmas together, but Nick has been to England to visit Amy.

Door to let her marry him fainted

Last year in June, when Nick came to the UK to visit Amy, he suddenly open to Amy to marry him and gave her an engagement ring. Due to excessive excitement, Amy actually on the spot in a coma for the past. Amy recalled: "I was really very surprised, I have no idea what he proposed to me, I gave it away without thinking." Last year in November, in the UK, "Caldwell Children" charity With the help of Amy and the family to another Florida vacation, and there and "sweetheart" Nick met again.

It is reported that Cockayne syndrome is an incurable progeria, the disease is only 87 millionth the probability that patients usually do not survive past the age of 20. Very clear about their own fate decisions and both Nick and Amy, a race against time, they plan to hold a romantic summer wedding to husband and wife in this life. Nick told reporters: "I just want all the time, and Amy together."

Could not wait until the wedding day

According to medical experts, the two unfortunate lovers may die at any time, they may not even live up to this summer to participate in their dream wedding! Because of the recent period, their "progeria" start condition worsened. Amy is gradually losing his hearing and vision, she also suffers from high blood pressure, chronic kidney disease and other senile diseases, in addition to her hands and feet are still the same as Parkinson's disease continue to shake, and the situation is more serious, she must rely on people to feed eating. In addition, Amy is also no longer walk with their feet.

Amy speech voices became vague, and Nick There was also deterioration in condition, and his speech would have been equally vague, but the couple together, they can perfectly understand each other's words, the if they were the heart have the same.

Amy mother Jenny said: "Amy and Nick really in love, but sadly, both of whom appear to have no future. If one of them died first, imagine another person What grief will be. However, not every think they may even live to wedding day, my heart began to more pain, I really hope their happiness can last forever, but sadly, I know that this is an unrealistic dream. "[2]

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