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Rare disease treatment - Citrullinemia Infant from Thailand successfully saved at NTUH An infant in Thailand was noticed to be lethargic and poor feeding on the third day after his birth. His blood test indicated hyperammonemia (over ≦50µmol/L) and abnormal increase of Citrullin. 500µmol/L, normal level≦ He has immediately received peritoneal dialysis therapy and protein-restricted diet; however, he still appeared hyperammonemia. His parents learned that hemodialysis therapy is the most effective way to rapidly reduce the blood ammonia level, but also disappointedly realized the fact that hemodialysis therapy is not available on infants in their home country. They consequently looked for a hospital overseas that has full experience in infant hemodialysis therapy. They found out that NTUH meets all the qualifications and decided to give it a try. The infant had been placed on endotracheal tube connected to ventilator machines when he was transported to Taiwan by airplane accompanied by his parents and a medical team. He immediately received a medical examination at NTUH. The examination report revealed his high blood ammonia level (over 500µmol/L), high blood Citrullin level (over 3000µmol/L), liver failure and respiration failure. The patient’s blood ammonia level has been successfully brought down to the normal range within 4 hours after hemodialysis therapy. Subsequently, he received plasma fibrinogen infusion, amino acid supplement and three more rounds of hemodialysis therapy. His condition gradually improved and had remained stable when he was discharged after three weeks of hospital stay. He then safely returned to Thailand. This infant weighed only 4 kilograms when he was admitted to NTUH. The medical team had to be very circumspect and careful while performing the hemodialysis therapy on his tiny artery. With successful integration of the professionals from department of pediatrics, department of medical genetics historical background, department of surgery and intensive care into the treatment for metabolic birth defects, genetic diseases and rare disorders, NTUH has obtained good results. Before treatment After treatment