"Non-keto high glycine hyperlipidemia" is a fairly rare disease, according to unofficial statistics, the country is not more than ten cases. It is a genetic disease, mainly in the parent chromosome is defective, the body can not properly metabolize toxins excreted through the blood to accumulate in the body, the brain, causing severe cramps, coma and eating difficulties and other symptoms, the condition often died young happen. As is currently not learned from prenatal care, drug treatment is also limited, for this disease can be said to be helpless.
Chiayi County named James City, there are one pair of twin sisters suffer Nonketotic high profile acid hyperlipidemia, life experience in a very poor, the children do not laugh nor cry trouble, a lie down close your eyes, even the breast are no strength, painted his wife to be with a needle to milk the baby mouth before each feeding, the baby burp at least ten minutes, to cough up sputum to feed. Where little sister had died in April this year, Mrs Kugan painted eyes, only expect God to grow up in peace little sister home kei.
Specializing in genetic disorders in children Mackay Memorial Hospital pediatrician Shuan-Pei Lin said that as the current drug treatment for this disease is not ideal, at most reduce the deterioration of it, slightly improve symptoms, can not be prevented from abnormal prenatal care, only the first one child only after the second child was born a specific inspection.
Currently in the National Taiwan University Hospital has found two cases, the history of Taiwan's medical literature there have been four cases, there is a premature deaths, did not seek medical treatment, Shuan-Pei Lin said that this autologous metabolic disorders are very rare, I hope the pharmaceutical industry can be treated as early as possible this invention kinds of diseases, alleviate their suffering.
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