高鸟氨酸血症-高氨血症-高同型瓜氨酸尿症综合征1例报告并文献复习  

Hyperornithinemia-hyperammonia-hyperisocitrullinuria syndrome:A case report and literature review

作　　者：焦玉帅 刘文晶 袁兆红[2] JIAO Yushuai;LIU Wenjing;YUAN Zhaohong(School of Clinical Medicine,Jining Medical University,Jining,Shandong 272067,China;Department of Children′s Rehabilitation,Affiliated Hospital of Jining,Medical University,Jining,Shandong 272029,China)

机构地区：[1]济宁医学院临床医学院,山东济宁272067 [2]济宁医学院附属医院儿童康复科,山东济宁272029

出　　处：《现代医药卫生》2024年第6期941-943,948,共4页Journal of Modern Medicine & Health

摘　　要：高鸟氨酸血症-高氨血症-高瓜氨酸尿症综合征(HHH综合征)是一种罕见的常染色体隐性遗传的尿素循环障碍性疾病。该院收治了1例HHH综合征患儿,平素挑食严重,厌食高蛋白食物,运动倒退,多次实验室检查示转氨酶、血氨升高及凝血功能异常,全外显子基因检测显示患儿携带SLC25A15基因c.521C>G(p.S174x)纯合变异,患儿父母均携带该基因杂合变异,患儿经肝移植后好转。对于该类患儿建议早期进行血尿遗传代谢及基因检测以挽救患儿生命及提高其生活质量。Hyperornithinemia-hyperammonia-hypercitrullinuria syndrome(HHH syndrome)is a rare autosomal recessive urea cycle disorder.A patient with HHH syndrome was admitted to the hospital with severe picky eating,anorexia of high-protein foods and exercise regression.Multiple laboratory tests showed high transaminase,elevated blood ammonia and abnormal coagulation function.The whole exon gene test showed that the child carried a homozygous mutation of SLC25A15 gene c.521C>G(p.S174x).Both parents carried the heterozygous mutation of the gene,and the child improved after liver transplantation.For these patients,early hematuria genetic metabolism and gene detection are recommended to save lives and improve quality of life.

关 键 词：高鸟氨酸血症-高氨血症-高同型瓜氨酸尿症 尿素循环障碍 SLC25A15基因 病例报告 

分 类 号：R596.1[医药卫生—内科学]