NBME Free 120 The second CFTR mutation was not detected by the testing obtained (NBME Answers)

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free120/Block 3/Question#27 (reveal difficulty score)
A 30-year-old woman comes to the physician ...
The second CFTR mutation was not detected by the testing obtained 🔍 / 📺 / 🌳 / 📖
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submitted by ∗bwdc(697)

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tscCyi bfirsois is an lmsotaoau crsieesev sieaeds nnoivlvig FRCT iw(hch dnoseec the FRTC o,te)prni icwhh esmna uoy ende a ldoeub thi ot espsrxe eth esised.a fI het ingeetc tets onyl ceipdk up n,oe thne it sumt veah edissm teh .ehrto

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drdoom The reason something is an “autosomal recessive” disease is because the protein encoded by the gene (of which you have two alleles, remember) does something where as long as you make SOME protein, your body should be okay. That’s kind of vague, so take the case of Cystic Fibrosis: you don’t present with Cystic Fibrosis if you have at least one functional allele -- that’s because CFTR protein is a protein that (in the case of bronchiole tissue) moves Chloride ion from inside cells to the outside lumen, which brings with it H2O and keeps the bronchiole lumen nice and watery, and fluid and non-viscous and non-pluggy. So long as you make enough of this protein, you don’t “need” both alleles to be good; the good allele can “make up for” (make enough of the protein product) to compensate for the “broken allele.” So, once again, understanding the pathophys of a disease allows you to reason through and predict things like disease penetrance and expressivity. +3

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submitted by ∗drdoom(1202)

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Teh asoner ntehsoimg si an ltoomaua“s eeirvse”sc eadisse is ebaceus eth inperto edocend by eht gene f(o hwhci uyo vahe otw llsaee,l fo cusroe) does gemhntois heewr sa nolg sa oyu meak OMSE eptro,in uyro body ulhods eb kayo.

hastT’ dikn of g,euav os eatk hte case fo tiycsC bso:iriFs uoy tn’do neetprs iwht tCsciy robFsisi if ouy vahe ta tasle one anifutncol aleell -- ’thats aebescu CFTR tperoin si a riotpen ahtt ni( het acse of icoehlonrb esut)si moves lC- romf eisidn elscl ot eht odtueis lunem, chiwh gnisbr hitw ti HO2 nda skpee the rnbocoleih lmuen cien nad tywa,re and lufid adn sc-nusovnio and noggu.pynl-

oS olng sa oyu akem oeungh fo hist t,pieonr oyu ’tndo ne“”de otbh lleasel ot be godo; hte odgo llleea anc a“kem pu ofr” kaem( nohgeu of hte ipnrote copdtur ot mecetsonap )orf hte obkren“ ll”e.ela So, ceno an,gai dunedrgninats eth pspyothha of a eaidsse alsolw oyu ot esrona grhhtuo nda tpceidr htsing ikle eesdisa ecntepnare dan sxrs.eytiivpe

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submitted by ∗dixie96(3)

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esdo tno deen ot be eht ames tmiotuna arelcl CF sah myan otnsuatim atth ucase ti os lieylk hsit naeitpt hsa 2 tifrndefe nttiuasom tboh fo hcwih eld ot reh vghina FC nda eth sett swa pfesicci nyol ofr eno of rhe isaunttmo

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submitted by ∗melchior(79)

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To ohets ergwnondi how a RCTF touanmit is otn teeetcdd:

FC cna seutlr mfor orme hatn a aothdusn eefirtdfn .omut[a5]si4tn sA of 21,06 ytlyialcp ynlo hte msot mcomon umintstao are detste f,ro csuh sa [54Δ]F508 sMto lmccolaimyer lliaebava stets ookl rof 23 ro efewr ffnetedri iunttosma.

idWaiiepk

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chaosawaits So she has a different mutation on the other gene that is not common that also causes a deficiency of the channel protein? Bad luck, Charlie +1

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submitted by ∗an1(114)

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AR se.iadse 'sShe gto lal eth pymtsos,m esh stum vhae ohtb veceeditf gnsee. eiGncte sttgnie for the 63 smto omcomn aoisnmttu swohs a acelbttede ttnioaum D55G)1( ni one lellae fo eht CFTR e.neg taWh autob het 2nd ngee... ew KNOW she ash the is.seaed It na'wts t.tedcdee

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