中华实用儿科临床杂志
中華實用兒科臨床雜誌
중화실용인과림상잡지
Journal of Applied Clinical Pediatrics
2014年
24期
1844-1847
,共4页
蛋白脂蛋白1相关性疾病%佩梅病%痉挛性截瘫%基因
蛋白脂蛋白1相關性疾病%珮梅病%痙攣性截癱%基因
단백지단백1상관성질병%패매병%경련성절탄%기인
Proteolipid protein 1-related disorders%Pelizaeus-Merzbacher disease%Spastic paraplegia%Gene
蛋白脂蛋白1(PLP1)相关性疾病是指PLP1基因突变所致的一组临床宽泛且重叠的疾病谱系,连续的疾病谱系包括从严重脑白质病变的佩梅病(PMD,MIM# 312080)到症状相对温和的痉挛性截瘫(SPG2,MIM# 312920).PLP1相关性疾病的致病基因型处于不断发现和更新当中,其临床表型之间存在明显的异质性,同时与PLP1相关性疾病表型相似的疾病众多,因此,临床准确诊断这一组疾病存在巨大挑战.现将PLP1相关性疾病的表型和基因型及其之间的关系综述如下,希望能对临床医师诊断这一复杂谱系疾病有所帮助.
蛋白脂蛋白1(PLP1)相關性疾病是指PLP1基因突變所緻的一組臨床寬汎且重疊的疾病譜繫,連續的疾病譜繫包括從嚴重腦白質病變的珮梅病(PMD,MIM# 312080)到癥狀相對溫和的痙攣性截癱(SPG2,MIM# 312920).PLP1相關性疾病的緻病基因型處于不斷髮現和更新噹中,其臨床錶型之間存在明顯的異質性,同時與PLP1相關性疾病錶型相似的疾病衆多,因此,臨床準確診斷這一組疾病存在巨大挑戰.現將PLP1相關性疾病的錶型和基因型及其之間的關繫綜述如下,希望能對臨床醫師診斷這一複雜譜繫疾病有所幫助.
단백지단백1(PLP1)상관성질병시지PLP1기인돌변소치적일조림상관범차중첩적질병보계,련속적질병보계포괄종엄중뇌백질병변적패매병(PMD,MIM# 312080)도증상상대온화적경련성절탄(SPG2,MIM# 312920).PLP1상관성질병적치병기인형처우불단발현화경신당중,기림상표형지간존재명현적이질성,동시여PLP1상관성질병표형상사적질병음다,인차,림상준학진단저일조질병존재거대도전.현장PLP1상관성질병적표형화기인형급기지간적관계종술여하,희망능대림상의사진단저일복잡보계질병유소방조.
Proteolipid protein 1 (PLP1)-related disorders are a series rare X-linked recessive disorders caused by mutations of PLP1 gene.There is a spectrum of PLP1-related disorders from very severe connatal PelizaeusMerzbacher disease(PMD,MIM# 312080),through classical PMD to mild spastic paraplegia type 2 (SPG2,MIM# 312920),with some correlation between the type of mutation and the phenotype.The genotype of PLP1-related disorders was constantly discovered and updated,meanwhile there was obvious heterogeneous within clinical phenotypes.Moreover,there were so many diseases similar to PLP1-related disorders.Therefore,there was a huge challenge when clinician met with PLP1-related disorders.The aim of this report is to summarize correlation between the genotype and the phenotype of PLP1-related disorders,and give a help for clinician to diagnose this group complicated disorders.
