(1.2)--拓展内容（2）蚕豆病和葡萄糖6磷酸脱氢酶缺乏症.doc

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(1.2)--拓展内容（2）蚕豆病和葡萄糖6磷酸脱氢酶缺乏症.doc

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FavismandGlucose-6-PhosphateDehydrogenaseDeficiency

Jan04,2018?-WrittenbyCarlaRothaus

WhatarethechemicalsinthefavabeanthattriggerafavismattackinpatientswithG6PDdeficiency?

Favismisbyfarthemostcommonformofglucose-6-phosphatedehydrogenase(G6PD)deficiency–relatedacutehemolyticanemia.SinceinEuropeandtheUnitedStatestheincidenceofautoimmuneacutehemolyticanemiaisestimatedtobeontheorderof1caseper50,000population,favismisalsooneofthemostcommontypesofacutehemolyticanemia,especiallyamongchildren.Readthelastest?NEJMReviewArticle.

ClinicalPearls

Q:Whereisfavismmostprevalent?

A:FavismoccurscommonlyonlywherethefrequencyofG6PDdeficiencyisrelativelyhighandwherefavabeans(alsoknownasbroadbeans)areapopularfooditem,whichreflectsitsbifactorialnature.Thisistrue,forinstance,insouthernEurope,intheMiddleEast,andinSoutheastAsiabutnot,forexample,innorthernGermany,wherefavabeansaregrownbutG6PDdeficiencyisrare,orforinstance,inWestAfrica,whereG6PDdeficiencyhasahighprevalencebutfavabeansarenotgrown.

Q:WhereistheG6PDgenelocated?

A:TheG6PDgenemapstothesubtelomericregionofthelongarmoftheXchromosome,anditissubjecttothephenomenonofX-chromosomeinactivation.Inmostcases,thepatientpresentingwithanattackoffavismisaboybetweentheagesof2and10yearswhoisbroughttotheemergencydepartmentbecauseheappearstobequiteill,withpallor,jaundice,abdominalpain,andoftenfever.Theparents,ifasked,almostalwaysreportthattheirsonhasdarkurineandhaseatenfavabeans.Anyseriesofpatientswithfavismalsoincludesfemales,mostofwhomareheterozygous.Inaheterozygousfemalepatient,Xinactivationproducesadualred-cellpopulation:someredcellshavenormallevelsofG6PD,whereasothersareG6PD-deficient.Thelatter,onexposuretoredoxagents,arejustas