摘要
目的总结罕见病酪氨酸血症Ⅲ型(Tyrosinemia Type Ⅲ)的临床资料,为临床医生对该病的早期诊治提供帮助。方法回顾分析1例氨酸血症Ⅲ型患儿的临床特点、基因变异情况,并进行文献综述。结果患儿,男,6月,主因“出生足底血筛查串联提示酪氨酸增高”到我院遗传代谢科门诊就诊。门诊检查发现患儿除串联提示酪氨酸明显增高及尿有机酸提示4-羟基苯乙酸、4-羟基苯乳酸、4-羟基苯丙酮酸显著升高外,临床情况良好,无肝大、黄疸、贫血及出血倾向,无皮肤及眼部病变,无神经精神症状及肌张力改变,无喂养不耐受等,基因检测提示HPD基因复合杂合突变,诊断酪氨酸血症Ⅲ型(HPD基因变异),因患儿疾病发现早,干预及时,目前患儿治疗效果良好,发育正常。结论随着串联质谱技术被纳入新生儿遗传代谢病筛查,越来越多遗传代谢病的患儿在发病早期即可以得到诊断与干预,从而有效避免患儿发生代谢危象,改善疾病预后,并有助于延长患儿寿命。
Objective To summarize the clinical data of Tyrosinemia TypeⅢ,a rare disease,to assist clinicians in its early diagnosis and treatment.Methods We retrospectively analyzed the clinical features and gene variations of a pediatric patient with Tyrosinemia Type Ⅲ and conducted a literature review.Results The patient,a 6-month-old male,visited our hospital's genetic metabolism clinic due to elevated tyrosine levels detected by tandem mass spectrometry in neonatal screening.Outpatient examination showed significantly increased tyrosine levels and elevated 4-hydroxyphenylacetate,4-hydroxyphenyllactate,and 4-hydroxyphenylpyruvic acid in urine organic acids.However,the patient had a good clinical status with no hepatomegaly,jaundice,anemia,bleeding tendency,skin or eye lesions,neuropsychiatric symptoms,muscle tone changes,or feeding intolerance.Ge netic testing revealed compound heterozygous mutations in the HPD gene,leading to a diagnosis of Tyrosinemia Type Ⅲ(HPD gene variation).Timely intervention resulted in good treatment outcomes and normal development.Conclusion We conclude that incorporating tandem mass spectrometry into neonatal genetic metabolism screening can facilitate early diagnosis and intervention for metabolic diseases,prevent metabolic crises,and improve prognosis and life expectancy.
作者
钟丽梅
于雯雯
陈黎
ZHONG Li-mei;YU Wen-wen;CHEN Li(Shantou University Medical College,Shantou 515063,Guangdong Province,China;Shenzhen Children’s Hospital,Shenzhen 518000,Guangdong Province,China)
出处
《罕少疾病杂志》
2026年第1期1-4,共4页
Journal of Rare and Uncommon Diseases
基金
深圳市‘医疗卫生三名工程’项目资助(No.SZSM202311005)。
