Thailand a newborn that is, since the diagnosis of citrullinemia baby boy , due in critical condition, as a physician in the mother running under the sea to come to Taiwan for medical treatment , emergency imposed by the National Taiwan University Hospital hemodialysis, as well as giving exclusion ammonia drugs, lucky save a life.
National Taiwan University Hospital , director of gene therapy, Dr. Hu pointed out that the boy to come to Taiwan for medical expenses, hospital to give 30% discount roughly NT $ 60 to 700,000 yuan . Currently boy has returned to Thailand four months , the disease is still in control, still rely on every day can help eliminate ammonia and drug Buphenyl special formula milk , medication alone may take 3 to 4 month yuan.
National Taiwan University Hospital 's department of pediatrics Jane Ying show that citrullinemia is autosomal recessive metabolic disorder , is a rare disease , the incidence is about 2-3 births 1 ; mainly in the human body after eating protein metabolic process , can not effectively convert the toxic ammonia into non-toxic urea, citrulline accumulation and resulting hyperammonemia . Over the past eight years, the National Taiwan University Hospital screening of 24 sick children , but more severe as the first type citrullinemia , NTU also has a sick children currently waiting for a liver transplant .
Hu says , this newborn baby boy in the third day, ie vomiting, drowsiness, restlessness , shortness of breath , examination revealed blood ammonia over 500 units , must be urgently dialysis . Fortunately, the boy 's mother is immune to general practitioners , see NTU has published neonatal metabolic disorders undergoing hemodialysis papers , and thus sea to NTU for help.
National Taiwan University Hospital International CEO Ching-Ting Tan said that this name in the middle of the night wearing a respirator sick infants delivered by an aircraft Taoyuan airport, has shown signs of liver failure and respiratory failure, delivered directly by ambulance NTU .
National Taiwan University Hospital pediatrician Caiyi Rong said that the sick infants successfully placed double-lumen catheter , hemodialysis that night , after dialysis three times , and finally exclude ammonia , and in the special formula and rare disease drug treatment , the condition stabilized , nearly four weeks after hospitalization discharge return.
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