Neonatal screening in Taiwan in 74 years since the implementation of neonatal screening by Taipei Veterans General Hospital were indeed Clinic for drug-type of 12 cases of children with phenylketonuria by Rong-Yang team for many years after treatment follow-up and hair Is to replace close clinical observation of frequent lumbar puncture Detect children neurotransmitter concentration Degrees, at any time to adjust drug dosages and the use of methods, may jeopardize the child's intelligence, disease The average IQ of children up to 97, compared to overseas studies of 76 children with average IQ much higher, The treatment and research results has been the United States first-class nerve Medical journals (Archives of Neurology) Accepted, published, not only to Taiwan in the drug-based treatment of phenylketonuria outcome of a new world record Record, but also shows the effectiveness of neonatal screening in Taiwan remarkable, and rare genetic diseases outstanding
Clinical outcome.
Phenylketonuria pathogenesis lies mainly in the liver to body phenylalanine (Phenylalanine,
Phe) metabolism into tyrosine (Tyrosine, Tyr) have taken place in the process of defects, leading to amphetamine
Substantial accumulation of acid in the body, which have had a lot of toxic metabolites, resulting in brain injury
Harm. Phenylketonuria in Europe and the U.S. rate of one ten thousandth of happened, our country is about 30,000 parts per statistics
1. PKU can be divided into drug-based and Food phenylketonuria two patients with phenylketonuria need food
Have to keep on the use of strict control of the treatment of low-protein diet. The so-called low-protein diet is fish,
Meat, milk, eggs, beans, etc. are rich in high-protein food for human consumption should not only eat fruits and vegetables and carefully
Deployment of special milk formula to supplement the amino acids necessary for human body to maintain normal hair growth
Required education. But more than food-type phenylketonuria phenylketonuria rare type of drug, such patients in addition to
A has the above-mentioned errors of metabolism, at the same time the merger of the central nervous system neurotransmitter synthesis of dispensable
Lack of clinical symptoms than phenylketonuria more serious type of food, and the conductive material due to the central nervous system drugs
Supplementary material is extremely difficult, so doctors in Europe and America, also known as drug-type phenylketonuria as "malignant PKU",
Is generally believed that even if early treatment, patients may be in irreparable damage to the intelligence.
Type of drug treatment in patients with phenylketonuria greatest difficulty lies in the side effects must be added great
Neurotransmitter substances, such as: Sinemet (Nanjing heart-US) ,5-HTP (Hydroxy Tryptophan Friday)
And so on, and add the required dose of the world up to now failed conclusion. General mining in the West Country
Lumbar puncture with regular inspections, to take a patient's spinal fluid, measurement of these neurotransmitter concentration
Degree to determine the dose used; but at home parents in general more difficult to accept the frequent lumbar spine wear
Thorns, and the medical team that even if the spinal fluid concentration of nerve conduction material will not be able to correct the anti -
Should be sick of nerve conduction material needs.
For newborn screening before the onset of serious damage to the brain lead to illness, Rong-Yang team
Clinical experience has shown that foreign substances for nerve conduction supplement recommended dose may be not
Adequate, it is much higher than abroad, the use of the therapeutic dose to treat this group of patients, for fear of nerve conduction were
Quality will have serious side effects, so the medical team with patients and their parents between a hot
Line for parents to return children to the situation at any time, at any time to adjust drug dosages and the use of
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Ways. The medical department of our children cow Daoming track since physicians from 1988 to 2000 born between 12 cases of disease
Child found to replace the frequent clinical observation of the lumbar puncture nerve conduction Detect the concentration of a substance can be
Prejudice the child's intelligence, children with average IQ as high as 97, there are many children who score has been
Out come out on top, there is one of two pairs of patients for the different egg twins, children's performance at school and even
Are better than non-ill brother.
To achieve the world's first treatment results, hidden behind a lot of behind-the-scenes hero. First of all, The Guardian
Department of Health Bureau of Health more than 20 years ago set up a sound and effective newborn screening systems, and
In the ensuing continuously for so many years of support and guidance, so that Taiwan can reach the neonatal screening
International standards. In addition, cooperation with our two neonatal screening centers - the Republic of China Wei
Health Care Foundation and the Taipei pathology center, using the highest specifications and accurate testing method. Work
Usually the expense of staff holidays, encounters positive cases will be in the shortest time possible positive and Units
North General Hospital and the collection agency contact, be sure to let each case in the shortest possible time came to Taipei Veterans General Hospital
Accepted diagnostic tests and treatment to confirm. National Yang Ming University, Kwang-Jen Hsiao and Professor Liu Zizi to help build hospital
Erect the most comprehensive diagnosis of phenylketonuria drug type flow; and our quality medical team to provide
Patients and their families up in the medical, social resources, psychological assistance and care and so on.
And really the most important hero finally, is that this group of patients tirelessly parents, their
Attentive care for children, regular medication, and medical team to reach its present stage with such
Results. Especially those born at neonatal screening in a timely manner can not be found in patients and their
Parents, although these patients have been intellectual harm and there is lot of complications, but
Since they are not giving up, are willing to regularly come to our hospital for treatment and examination, so that we in their
Serious clinical symptoms, the study to more experience, so for those in the neonatal screening
Found that patients in a timely manner to obtain a more precise outcome of the treatment.
Case prior to the implementation of neonatal screening
Jia-yu was born, it usually will cramp, or is completely unable to move, our eyes will be less likely to be
Rotation, the doctor diagnosed as caused by premature cerebral palsy. However, more symptoms of ongoing
Occur - skin eczema, cramps when the body stiffness, usually when the muscles are weak and can not self -
Others eat eat, we must rely on the feeding, so thin that the skin and bones, to the two-year-old still not walking, brother
Di Yan Xiang after birth is also the same situation. Lot of doctors told Huang mother: "You children
Not saved. "But mother will not give up yellow, and even told the doctor:" I must have saved the child,
My daughter grow up to be Miss China! . " Although Huang was reluctant to give up next, but the large treatment
Costs, it is going to bankrupt the! Fortunately, Jia-yu, at two-year-old, nine-Yan Cheung, the yellow house
Taipei Veterans General Hospital to seek treatment, diagnosis, both drug-based phenylketonuria. Take medicine two days after treatment, eye
Eye can move one month after the good yu can walk, yellow mother would like to thank God for her encountered, although both the child's intellectual impairment, but they are still alive and well, good
Yu, now 24 years old, Yan Xiang, 22-year-old.
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Newborn screening before and after the two cases
Guo mother (do not shoot the children's positive)
Lin-lin at 77 years are born not long after birth on the hospital to inform the hospital to return to review by the
Taipei Veterans General Hospital after inspection confirmed phenylketonuria drug type. Guo said the mother have a sister-ping
Ping was born are 67, have similar symptoms. Pingping 4 ~ 5 months beginning phenomena have cramps, and thereafter every
Days cramps, eyes turned upward, the body rigid and will not speak nor walk, hair every month
Burning cold, when a doctor diagnosed as cerebral palsy. Later, Lin-lin because only found out that her sister-ping
Ping is also the drug-type phenylketonuria.
Ping-Ping, 30-year-old, are in Taiwan, neonatal screening system set up before the patients have
The situation of intellectual impairment, mental retardation are now studying in a school; 20-year-old this year, Lin-lin, at birth
That is, screening for phenylketonuria patients out, it is now a college business administration department of fresh people, both children's hair
Selective indeed different.
After the implementation of neonatal screening case
Young Mother (Do not shoot the children's positive)
Happy to greet the twins were born, but after the newborn screening found benzene Tak Tak suspected urine ketone
Disease, by the Veterans General Hospital, Chiayi referral northward to do further checks to see little body and stuck the needle body
Tube, Yang mother to tears every day face, identified as phenylketonuria, the mother not only blame Yang heaven,
Have been to blame themselves, why are there only to her children by these sufferings? Yang mother slowly accepted
The facts, and to adjust mood brave face after the determination, actively cooperate with the cow care physicians and Taipei Veterans General Hospital Human
Members of the treatment. When Tak-Tak 7 months when she found Young mother pregnant, during pregnancy in the Taipei Veterans General Hospital for
The chorion puncture, is still highly suspected phenylketonuria, because after discussions with the President was reluctant to give up child
Son, the brave decision to give birth to children. After the birth of the second mining encyclical to the Taipei Veterans General Hospital for examination to determine
Phenylketonuria, but saw his brother Tak-Tak-treatment good results, he was growing up with other small
Friend is no different. Encyclical so mining has also taken an active drug treatment, hoping that he can have a
Happy childhood.
Tak-shing primary current 5-year primary mining encyclical 4 grades, from kindergarten to primary school, their brother and sister
At the same age with the study on children are no different, even more so than the average child should be excellent, Tak-shing of the study
Grade school or even twin brother than even excellent, at the piano mining encyclical on the study are also quite talented,
Yang saw my mother and normal child growth and learning, a sincere appreciation Daoming cow physicians and Taipei-rong
Total medical team carefully take care of, as well as the Republic of China Association of congenital metabolic diseases to help.
Yang mother more phenylketonuria patients want to tell every parent, and must not abandon them, as long as with the cow
Physicians and all Tongren with the job, will be able to have a satisfactory outcome!
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Chen mother
Yi Xuan is a pretty lively little girl, was born not long that is diagnosed as drug-type benzene urine ketone
Disease, like a bolt from the blue to know their parents, but later in the cow Daoming physician encouragement, daily time
Take medicine, Yi Xuan to normal growth. However, when two-year-old Yi Xuan, his younger brother was born, David shuen this
Take medicine when beginning to resist, she often argued brother and parents why we did not take medicine and she wanted to take medicine? This
Yi Xuan's parents made a very annoyance, do not take medicine because of drug type phenylketonuria in a significant
Impact, no drugs will appear cramps, cramps, similar to the symptoms of Parkinson's disease. After To have a younger brother must also take medicine for flu, to see his younger brother David shuen ill must take medicine on the involute Gradually the. Yi Xuan is now six years old, the medication twice a day, although occasional temper or refuse Must take medicine, but to persuade the patient under the Parent, David always come shuen Finally put the. Children - my pride - you are the world's first Who says a rare disease patients and normal people can not like
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Phenylketonuria patients with drug-based performance NO.1
Many years ago, a group of rare congenital metabolic diseases in patients with poor parents, have witnessed their own child
Son with patients in Taiwan society neglected corner of the suffering of helpless struggling for life, and many home dumping
Dang production house in search for appropriate drugs or food, or to go abroad for medical treatment, or even forced to give up child
Son. In fact, enough of these children as long as drugs, diet controls properly, they can also be normal
Like children - grow up, work, marry, have children, as has a dazzling life.
Republic of China, congenital and metabolic diseases Friends of care is also based on the establishment of such a shape
Conditions established under the domestic for the care of patients with rare diseases have not been proper planning, so
These have the same face the same difficult experience and parents are actively seeking self-help, and professional medical
Treatment under the concerted efforts of all members, the association was set up! Our goal is to:
First, to assist patients with congenital and metabolic diseases for the National Health Insurance medicine, special food and inspection costs.
Second, encourage the drug-related diseases and special R & D and manufacture of food products.
Three, assist patients and families receiving treatment and counseling and psychological counseling.
Four, holding club, seminars introduce new knowledge and the strengthening of medical patients and patients between home
Encouraged.
Friday in support of the relevant medical research.
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