口服苯丁酸钠治疗先天性门体分流相关性高血氨症：一例报告。
Oral sodium phenylbutyrate for hyperammonemia associated with congenital portosystemic shunt: a case report.
机构信息
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Department of Pediatric Surgery, Keio University School of Medicine, Tokyo, Japan.
出版信息
J Pediatr Endocrinol Metab. 2020 Dec 14;34(3):407-410. doi: 10.1515/jpem-2020-0603. Print 2021 Mar 26.
OBJECTIVES
The efficacy of sodium phenylbutyrate (SPB) for hyperammonemia associated with congenital portosystemic shunt (CPSS) remains unknown. We show the effectiveness of oral SPB.
CASE PRESENTATION
Our patient had CPSS with severe hypoplasia of extrahepatic portal veins. At 9 months of age, to assess the efficacy of oral SPB, we evaluated the 24 h fluctuations of venous ammonia levels. In the first two days without SPB, ammonia levels were above 80 μmol/L for half a day. On the third and fourth days, administration of oral SPB three times a day decreased ammonia to acceptable levels, except at midnight. On the fifth day, another oral SPB administration at 8 pm decreased ammonia at midnight. Low levels of branched-chain amino acids, as well as coagulation disturbances, were observed without apparent symptoms. At 12 months of age, he showed normal psychomotor development.
CONCLUSIONS
Oral SPB may be effective for hyperammonemia associated with CPSS.
目的
苯丁酸钠（SPB）治疗与先天性门体分流（CPSS）相关的高氨血症的疗效尚不清楚。我们展示了口服 SPB 的有效性。
病例介绍
我们的患者患有 CPSS 和肝外门静脉严重发育不良。在 9 个月大时，为了评估口服 SPB 的疗效，我们评估了静脉氨水平 24 小时的波动。在没有 SPB 的前两天，氨水平有半天超过 80 μmol/L。在第三和第四天，每天口服三次 SPB 可将氨降至可接受水平，但午夜除外。在第五天，晚上 8 点再次口服 SPB 可降低午夜时的氨水平。观察到支链氨基酸水平低和凝血障碍，而无明显症状。在 12 个月大时，他表现出正常的精神运动发育。
结论
口服 SPB 可能对 CPSS 相关的高氨血症有效。
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