Peutz-Jeghers mob ntsws

Peutz-Jeghers syndrome (PJS) yog qhov tsis tshua muaj tshwm sim hauv kev loj hlob uas hu ua polyps nyob rau hauv cov hnyuv. Ib tug neeg uas mob PJS muaj qhov pheej hmoo siab tias yuav mob khees xaws.

Kuj tsis paub meej tias muaj pes tsawg tus neeg tau cuam tshuam los ntawm PJS. Txawm li cas los xij, National Institutes of Health kwv yees hais tias nws cuam tshuam txog 1 ntawm 25,000 txog 300,000 qhov kev yug.

PJS tshwm sim los ntawm kev sib pauv hauv cov gene hu ua STK11 (yav tas los hu ua LKB1). Muaj ob txoj hauv kev uas PJS tuaj yeem tau txais txiaj ntsig:

• Familial PJS tau txais los ntawm cov tsev neeg raws li kev muaj qhov tseem ceeb ntawm nws tus kheej. Qhov ntawd txhais tau hais tias yog ib tus ntawm koj niam koj txiv muaj hom PJS no, koj muaj 50% muaj feem los ntawm caj ces thiab muaj tus kab mob.
• Spontaneous PJS tsis tau txais los ntawm niam txiv. Lub noob hloov tau tshwm sim ntawm nws tus kheej. Thaum ib tug neeg nqa lub keeb hloov, lawv cov menyuam muaj 50% yuav muaj feem los ntawm nws.

Cov tsos mob ntawm PJS yog:

• Qhov muag daj lossis xiav xiav txho ntawm daim di ncauj, cov pos hniav, sab hauv ntawm lub qhov ncauj, thiab tawv nqaij
• Caws ntiv tes lossis ntiv taw
• Txoj kev mob plab hauv plab
• Tsaus tsaus nti ncig thiab ncig ntawm tus menyuam daim di ncauj
• Cov ntshav hauv cov quav uas tuaj yeem pom nrog qhov muag liab qab (qee zaum)
• Ntuav

Cov polyps loj hlob tsuas yog nyob rau hauv txoj hnyuv me, tab sis kuj nyob rau hauv lub plab hnyuv loj (cov hnyuv tws). Kev kuaj mob ntawm txoj hnyuv hu ua kev kuaj txoj hnyuv yuav qhia pom lub plab hnyuv tws. Cov hnyuv me yog soj ntsuam los ntawm ob txoj kev. Ib qho yog xoo duab xoo barium (xoo me me quav). Lwm qhov yog cov tshuaj ntsiav qhov ntev, hauv uas lub koob thaij me me tau nqos thiab tom qab ntawd siv ntau daim duab thaum nws taug kev hauv txoj hnyuv.

Cov kev kuaj ntxiv yuav pom:

• Ib feem ntawm txoj hnyuv quav rau nws tus kheej (intussusception)
• Cov hlav qog nqaij hlav hauv lub qhov ntswg, txoj hlab pa, txoj hlab zis, lossis zais zis

Kev kuaj sim yuav suav nrog:

• Ua kom tiav cov ntshav suav (CBC) - tej zaum yuav ua kom pom ntshav khiav ceev
• Kev tshuaj ntsuam caj ces
• Lub plab guaiac, txhawm rau saib ntshav hauv cov quav
• Tag nrho cov hlau-khi khi muaj peev xwm (TIBC) - tej zaum yuav cuam tshuam nrog cov hlau tsis muaj zog

Kev phais mob yuav tsum tau tshem tawm polyps uas ua rau muaj teeb meem ntev. Cov tshuaj noj pab cuam pab cuam tiv thaiv kev ua kom cov ntshav ploj.

Cov neeg muaj tus mob no yuav tsum tau saib xyuas los ntawm tus neeg saib xyuas kev noj qab haus huv thiab tshuaj xyuas tsis tu ncua rau kev hloov pauv mob qog nqaij hlav cancer.

Cov chaw pabcuam hauv qab no tuaj yeem muab cov ntaub ntawv qhia ntau ntxiv rau PJS:

• Lub Koom Haum Tebchaws rau Cov Tsis Txaus (NORD) - rarediseases.org/rare-diseases/peutz-jeghers-syndrome
• NIH / NLM Genetics Hauv Tsev Ntawv - ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome

Tej zaum yuav muaj kev pheej hmoo siab rau cov polyps no ua rau mob loj. Qee qhov kev tshawb fawb txuas PJS nrog cov qog nqaij hlav hauv plab hnyuv, lub ntsws, lub mis, lub tsev menyuam, thiab cov zes qe menyuam.

Teeb meem yuav suav nrog:

• Intussusception
• Cov polyps uas ua rau mob cancer
• Cov hlwv ntawm zes qe menyuam
• Ib hom qog ntawm zes qe menyuam hu ua poj niam qog hlav

Hu teem sijhawm nrog koj tus kws khomob yog koj lossis koj tus menyuam muaj cov tsos mob no. Kev mob plab heev tuaj yeem yog cov cim ntawm kev mob ti tes ti taw xws li kev xav ua kom tiav.

Kev tawm tswv yim rau caj ces yog pom zoo yog tias koj tab tom npaj kom muaj menyuam thiab muaj tsev neeg muaj keeb kwm ntawm tus mob no.

PJS

• Digestive system plab hnyuv siab raum

McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers mob ntsws. Hauv: Adam MP, Ardinger HH, Pagon RA, li al, eds.GeneReviewsCov. Seattle, WA: University of Washington. www.ncbi.nlm.nih.gov/books/NBK1266. Hloov kho thaum Lub Xya Hli 14, 2016. Nkag mus Lub Kaum Ib Hlis 5, 2019.

Wendel D, Murray KF. Cov qog ntawm lub plab zom mov. Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: cha 372.