类脂质蛋白沉积症一例  

A case of lipoid proteinosis

作　　者：郎春梅 邵华 马静[1] 高映勤[1] 陈泉东[1] LANG Chun-mei;SHAO Hua;MA Jing;GAO Ying-qin;CHEN Quan-dong(Department of Otolaryngology,Head and Neck Surgery,Kunming Children's Hospital/Kunming Key Laboratory of Birth Defects Prevention and Control in Children/Yunnan Key Laboratory of Major Diseases in Children,Kunming 650228,Yunnan,CHINA)

机构地区：[1]昆明市儿童医院耳鼻咽喉头颈外科、昆明市儿童先天出生缺陷防控研究重点实验室、云南省儿童重大疾病研究重点实验室,云南昆明650228

出　　处：《海南医学》2023年第16期2422-2424,共3页Hainan Medical Journal

摘　　要：类脂质蛋白沉积症(lipoid proteinosis,LP)是一种非常罕见的常染色体隐性遗传病。以往研究显示,LP是由于位于染色体1q21的细胞外基质蛋白1(ECM1)基因突变所致。由于该病的发病率极低,临床症状不典型,导致临床上误诊率高。本文通过对1例以声嘶为首发症状的LP儿童进行病例分析,以提高临床医生在工作中对LP的认识,做到早诊断、早治疗。Lipoid proteinosis(LP)is a very rare autosomal recessive genetic disease.Previous studies have shown that LP is caused by mutations in the extracellular matrix protein 1(ECM1)gene located on chromosome 1q21.Due to the extremely low incidence of the disease and the atypical clinical symptoms,the clinical misdiagnosis rate is high.In this paper,a case analysis of a child with LP who had hoarseness as the first symptom was carried out in order to improve clinicians'understanding of LP at work and achieve early diagnosis and early treatment.

关 键 词：儿童 类脂质蛋白沉积 声音嘶哑 文献复习 

分 类 号：R394[医药卫生—医学遗传学]