MEDSCAPE考试你是否了解罕见疾

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MedscapeFastFiveQuizzesQuiz:DoYouKnowKeySignsandSymptomsofRareDiseases?GermaineL.Defendi,MD,MS;EmmanuelC.Besa,MD;MichaelStuartBronze,MDSeptember29,

Rarediseasesaredefinedasconditionsthatoccurinfewerthan,peopleintheUnitedStates.Someofthesediseasesareattheupperrangeofprevalence,whereasothersaremuchmorerare.Althoughyoumaynotencounterthemfrequentlyinpractice,havingakeeneyeforcertainsignsandsymptomsmayhelpidentifyrareconditions.Areyouabletoidentifythesehallmarksofrarediseases?Testyourselfwithourshortquiz.

罕见病定义为美国发病人数不足,人的疾病。一些罕见病发病人数相对较多，另一些罕见病则极为少见。尽管在日常工作中不一定会经常遇到罕见病，但对于某些症状体征保持警觉可能有助于发现罕见病。

你能否发现罕见病的典型表现？请接受以下的考试。

Achronic,progressiveclinicalcoursewithmultisysteminvolvement;phenotypicfeatures(eg,growthfailure,coarsefacialfeatures,hirsutism,organomegaly,jointcontractures);urinaryexcretionofglycosaminoglycan(GAG)fragments;presenceofleukocyteinclusionbodies;andradiographicabnormalities(eg,dysostosismultiplex)arehallmarksofwhichofthefollowing?

以下那种疾病可有如下表现：慢性进展性病程伴多系统受累；生长障碍，面部粗糙，多毛，器官增大，关节挛缩；尿液中排泄粘多糖(glycosaminoglycan)片段；存在白细胞包涵体；影像学异常（如脂肪软骨营养不良）？

[上期问题答案]

问题1：以下哪种疾病可有上述表现？

脂质积累症(Lipidstoragedisease)

粘多糖症(Mucopolysaccharidoses)

糖原累积症(Glycogenstoragediseases)

获得性部分性脂质营养不良(Acquiredpartiallipodystrophy)

答案1：粘多糖症

Themucopolysaccharidoses(MPSs)areafamilyofinheritedlysosomalstoragedisorderscausedbythedeficiencyofenzymesrequiredforthestepwisebreakdownofGAGs.GAGsareimportantconstituentsoftheextracellularmatrix,jointfluid,andconnectivetissuesofthebody.ProgressiveaccumulationoffragmentsofpartiallydegradedGAGsinthelysosomescausescellulardysfunctionandclinicalabnormalities.WithintheMPSfamily,theprimaryorgansitesofdiseasedifferdependingonthespecificenzymedeficiency;therefore,clinicalpresentationandtreatmentapproachesvaryforthedifferentdiseasetypes.TheMPStypesdosharethefollowingclinicalhallmarks:

粘多糖症(MPSs)是一组因缺乏GAGs逐步讲解所需酶缺乏引起的遗传性溶酶体积累疾病。GAGs是细胞外基质、关节液及机体结缔组织重要的组分。部分降解的GAGs片段在溶酶体内进行性积累，可导致细胞功能障碍及临床异常。在MPS家族中，根据特异性的酶缺乏不同，原发器官也有所不同；因此，不同疾病种类的临床表现也不相同。不同类型的MPS均有以下临床表现：

Achronicprogressiveclinicalcoursewithmultisysteminvolvement临床病程慢性进展性，且累及多个系统

Phenotypicfindings:growthfailure,coarsefacialfeatures,hirsutism,organomegaly,jointcontractures临床表现：生长障碍，面部粗糙，多毛，器官增大，关节挛缩

Laboratoryfindings:urinaryexcretionofGAGfragmentsandleukocyteinclusionbodies实验室检查：尿排泄GAG片段及白细胞包涵体

Radiographicabnormalities(eg,dysostosismultiplex)影像学异常（如脂肪脂质营养不良）

Formoreonmucopolysaccharidoses,readhere.

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