Niemann-Pick Disease Type C2：a Case Report and Literature Review

doi:10.12114/j.issn.1007-9572.2020.00.561

Abstract

Abstract: Niemann-Pick disease （NPD） is a group of lysosomal storage disorder with autosomal recessive inheritance.At present，there is no universally accepted effective treatment，and clinical interventions consist of mainly symptomatic treatments.The main clinical manifestations of NPD type C are severe infant jaundice，psychomotor retardation，hypotonia，aphasia，diffuse pulmonary lesions and hepatosplenomegaly.NPD type C2，in particular，is very rare，and respiratory distress is its most prominent symptom.In this paper，the clinical manifestations and gene sequencing results of an infant case of NPD type C2 were summarized，with relevant literature was reviewed，aiming to improve pediatrician's understanding of the disease to reduce the possibilities of missed diagnosis and misdiagnosis.

Key words: Niemann-Pick disease, type C；Gene mutation；Genetic phenomena；Rare diseases

摘要： 尼曼-皮克病（NP）是一组常染色体隐性遗传性溶酶体内脂质贮积病，目前尚无公认有效的治疗方法，临床上多为对症治疗。婴儿期严重黄疸、精神运动发育落后、肌张力低下、失语、肺部弥散性病变、肝脾肿大是NP C型的主要临床表现，其中C2型非常罕见，呼吸窘迫是NP C2型最突出的症状。本文总结了1例NP C2型患儿的临床表现和基因测序结果，对其诊治过程进行总结，并进行文献复习，以提高儿科医生对该疾病的认识，减少漏诊、误诊。

关键词: 尼曼-皮克病, C型, 基因突变, 遗传现象, 少见病

MAO Chunting,YANG Jun,SHI Jun, et al. Niemann-Pick Disease Type C2：a Case Report and Literature Review　[J]. Chinese General Practice, 2021, 24(3): 367-371. DOI: 10.12114/j.issn.1007-9572.2020.00.561.
毛春婷,杨军,时珺等. 尼曼-匹克病C2型一例报道并文献复习[J]. 中国全科医学, 2021, 24(3): 367-371. DOI: 10.12114/j.issn.1007-9572.2020.00.561.

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