摘要
6月龄男性患儿因咳嗽1个月余于2021-06-22入院,该例生长发育落后于同龄儿,肝脾肿大,多次查乳酸脱氢酶及甲胎蛋白明显高于正常值,尿乳清酸及尿嘧啶轻度增高,血氨正常。胸部CT示间质性肺炎,肝脏活检电镜下提示部分肝细胞内有大小不一的脂滴沉积,部分肝细胞内有较多色素颗粒沉积。经全外显测序显示SLC7A7基因复合杂合变异,最终诊断赖氨酸尿性蛋白耐受不良。该病属于一种罕见的常染色体隐性遗传病,病变早期诊断及时治疗可显著改善患儿预后,但因其常常累及多个系统,临床表现缺乏特异性,极易被漏诊或误诊,6月龄内小婴儿诊断该病罕见,文章总结该例临床特点及诊治经过,并结合相关文献,为早期诊断该类疾病及其并发症防治提供了参考依据。
A 6-month-old male child was admitted to hospital due to cough for more than 1 month.The child's growth and development lags behind that of children of the same age.Hepatosplenomegaly existed,and lactate dehydrogenase and alpha-fetoprotein were checked for multiple times and were significantly higher than normal values.Urine orotic acid and uracil slightly increased,and blood ammonia was normal.Chest CT showed interstitial pneumonia.Electron microscope of liver biopsy showed that lipid droplets of different sizes were deposited in some hepatocytes,and many pigment particles were deposited in some hepatocytes.Whole-exome sequencing revealed a compound heterozygous variation in the SLC7A7 gene,and the final diagnosis of lysinuric protein intolerance was made.The disease is a rare autosomal recessive disease.Early diagnosis and timely treatment of the disease can significantly improve the prognosis of children.However,because it often involves multiple systems and lacks specificity in clinical manifestations,it is easy to be missed or misdiagnosed.Diagnosed cases of small infants are rare.This article summarizes the clinical characteristics,diagnosis and treatment of this patient,and by reviewing relevant literature,provides a reference for the early diagnosis of such disease and the prevention and treatment of its complications.
作者
易迎晴
钟礼立
王珍
林小娟
丁小芳
YI Ying-qing;ZHONG Li-li;WANG Zhen(Children's Medical Center,the First Affiliated Hospital of Hunan Normal University(Hunan Provincial People's Hospital),Changsha 410005,China)
出处
《中国实用儿科杂志》
CSCD
北大核心
2023年第6期477-480,共4页
Chinese Journal of Practical Pediatrics
基金
湖南省儿童呼吸疾病重点实验室项目(2019TP1043)。
