Koj puas tau pom tias ib feem ntawm koj tus menyuam lub cev, tej zaum yog ib sab caj npab, ceg, lossis ntiv tes, loj heev piv rau lwm qhov ntawm lawv lub cev? Lossis koj puas tau pom ib yam dab tsi txawv txawv, zoo li ib lub qhov loj ntawm lawv daim tawv nqaij lossis ib qho chaw ntawm cov hlab ntsha? Nws yog ib txwm muaj rau txhua tus niam txiv yuav txhawj xeeb thaum lawv pom tej yam zoo li no. Niaj hnub no peb tab tom tham txog ib pawg ntawm cov mob tsis tshua muaj uas tuaj yeem ua rau muaj cov no. Nws hu ua PROS, lossis PIK3CA-Related Overgrowth Spectrum.
Cia peb nkag siab meej tias PROS thiab PIK3CA yog dab tsi.
Ua ntej tshaj plaws, PROS tsis yog ib yam kab mob xwb. Nws yog ib qho kab mob uas muaj ntau yam mob sib txawv. Tag nrho cov mob no muaj ib yam zoo sib xws. Qhov ntawd yog, qee qhov ntawm lub cev loj dhau (loj hlob dhau) lossis loj hlob mus ua ib yam tsis zoo.
Tam sim no cia peb saib seb vim li cas qhov no thiaj tshwm sim. Qhov laj thawj tseem ceeb rau qhov no yog kev hloov pauv, uas yog, kev hloov pauv, hauv cov noob hu ua 'PIK3CA' hauv peb lub cev.
Hais yooj yim xwb, peb lub cev zoo li lub Hoobkas loj. Muaj ib pawg lus qhia tias txhua yam hauv lub Hoobkas no yuav tsum ua kom raug. `PIK3CA` yog ib hom noob tseem ceeb uas muab cov lus qhia zoo li no. Nws yog tus uas qhia peb cov hlwb, "Okay, tam sim no koj faib," "Tam sim no koj loj hlob," "Okay, tam sim no koj lub sijhawm tas lawm, tuag."
Txawm li cas los xij, yog tias tsab ntawv hauv phau ntawv qhia ntawm cov noob 'PIK3CA' no tsis raug, uas yog, yog tias muaj kev hloov pauv tshwm sim, cov lus uas cov hlwb ntawd tau txais yuav tsis meej pem. Tom qab ntawd qee cov hlwb faib sai dhau, lossis tsis tuag thaum lawv yuav tsum tuag. Qhov ntawd yog thaum peb pom kev loj hlob tsis zoo hauv qhov chaw uas cov hlwb ntawd nyob, uas yog, hauv qhov chaw xws li daim tawv nqaij, cov hlab ntsha, pob txha, cov nqaij rog thiab lub hlwb .
Muaj ib qho tseem ceeb heev uas koj yuav tsum nco ntsoov ntawm no. PROS tsis yog ib yam kab mob uas kis tau los ntawm niam txiv mus rau menyuam. Qhov no txhais tau tias yog koj muaj tus kab mob no, koj tus menyuam yuav tsis muaj nws, thiab yog tias ib tug ntawm koj cov menyuam muaj nws, lwm tus menyuam yuav tsis muaj nws. Qhov kev hloov pauv caj ces no tsis tshwm sim hauv txhua lub cell ntawm tus menyuam lub cev, tab sis tsuas yog tshwm sim hauv qee lub cell xwb. Yog li ntawd, tsis txhob ntshai qhov no yam tsis tsim nyog.
Ntau yam mob uas muaj nyob rau hauv PROS
Qee zaum cov kws kho mob yuav kuaj mob ncaj qha rau tus kab mob uas muaj PROS. Lwm lub sijhawm, lawv yuav hais ib qho mob tshwj xeeb (mob hnyav) uas yog PROS. Qee qhov ntawm cov no tau teev nyob rau hauv lub rooj hauv qab no.
| Lub npe ntawm tus kab mob (Syndrome) | Cov yam ntxwv tseem ceeb thiab kev piav qhia |
|---|---|
| Fibroadidipose hyperplasia | Hauv qhov xwm txheej no, cov nqaij rog, cov nqaij fibrous, lossis cov hlab ntsha loj hlob ntau dhau ua rau muaj cov pob zoo li pob hauv cov ceg lossis lwm qhov ntawm lub cev. Raws sijhawm, cov no tuaj yeem loj hlob thiab cuam tshuam kev taug kev thiab kev txav mus los. |
| CLOVE syndrome | Lub npe yog los ntawm cov tsiaj ntawv thawj zaug ntawm cov tsos mob. C - Congenital (muaj txij thaum yug los), L - Lipomatous (cuam tshuam nrog rog - ntau tus menyuam tuaj yeem pom ib yam dab tsi zoo li lub pob rog), O - Overgrowth (loj hlob ntau dhau), V - Vascular malformations (cov hlab ntsha txawv txawv - zoo li cov cim yug, cov leeg ntshav), E - Epidermal nevus (ib hom mole uas tshwm sim ntawm daim tawv nqaij), S - Spinal/Skeletal (teeb meem nrog tus txha nqaj qaum lossis pob txha - piv txwv li mob nraub qaum). |
| Megalencephaly-capillary malformation (MCAP) syndrome | Lub hlwb, cov hlab ntsha, thiab cov yam ntxwv ntawm lub ntsej muag loj hlob ntau dhau. Cov menyuam no yuav muaj kev loj hlob qeeb thiab cov ntiv tes zoo li tsis zoo. |
| Kab mob Hemihyperplasia-multiple lipomatosis (HHML) | Feem ntau nws cuam tshuam rau kev loj hlob ntawm caj npab thiab ceg. Cov qog nqaij rog (lipomas) uas loj hlob qeeb, tsis mob tsim nyob rau hauv qab daim tawv nqaij ntawm ntau qhov ntawm lub cev, tshwj xeeb tshaj yog nraub qaum, lub cev, ceg, thiab cov ntiv tes. |
| Hemimegalencephaly | Hauv qhov xwm txheej no, tag nrho lub hlwb lossis ib nrab ntawm lub hlwb yuav loj dua li qub. Cov menyuam no yuav muaj kev qaug dab peg, tuag tes tuag taw, thiab kev loj hlob qeeb. |
| Kev kis tus kab mob lipomatosis ntawm lub ntsej muag | Ib qho o lossis loj hlob tsis mob ntawm ib feem ntawm lub ntsej muag. Qhov no feem ntau tshwm sim rau ib sab ntawm lub taub hau xwb. Qee zaum ib feem ntawm tus nplaig tuaj yeem loj hlob thiab pob txha thiab cov hniav tuaj yeem raug cuam tshuam. |
Cov kev kho mob rau qhov no yog dab tsi?
Tseem tsis tau muaj tshuaj kho tau tus mob PROS. Txawm li cas los xij, muaj ntau txoj hauv kev los tswj tus mob thiab nws cov tsos mob.
Koj tus kws kho mob yuav txiav txim siab seb yuav kho koj tus menyuam li cas. Nws yuav txiav txim siab tom qab kuaj xyuas koj tus menyuam tus mob thiab sab laj nrog ntau tus kws tshwj xeeb (piv txwv li, kws phais, kws kho mob hlwb). Nov yog qee txoj kev kho mob tseem ceeb:
- Kev Phais Mob: Tej zaum yuav pom zoo kom phais mob kom tshem tawm cov nqaij uas loj hlob dhau, tshwj xeeb tshaj yog tias qhov kev loj hlob cuam tshuam rau koj tus menyuam txoj kev taug kev lossis ua cov haujlwm txhua hnub, muab kev nyuaj rau lub hlwb, lossis xav tau los kho qhov mob xws li scoliosis.
- Cov Tshuaj: Koj tus kws kho mob yuav sau ntawv kom koj noj cov tshuaj los tswj cov tsos mob tshwj xeeb, xws li qaug dab peg. Kev tshawb fawb kuj tseem tab tom ua rau cov tshuaj tshiab uas tsom mus rau kev ua haujlwm ntawm PIK3CA gene.
Yav tom ntej ntawm kuv tus menyuam yuav zoo li cas?
Qhov no yog ib qho ntawm cov kev txhawj xeeb thiab kev ntshai loj tshaj plaws rau txhua tus niam txiv. PROS yog ib qho mob uas yuav tshwm sim mus ib txhis. Vim tias cov tsos mob sib txawv ntawm ib tus neeg mus rau ib tus neeg, yav tom ntej ntawm tus menyuam tuaj yeem sib txawv raws li.
Qhov no txhais tau tias qee tus menyuam yaus tuaj yeem ua neej nyob li qub yam tsis muaj teeb meem loj. Lwm tus, tshwj xeeb tshaj yog tias lub hlwb raug cuam tshuam, yuav muaj kev kawm sib txawv thiab kev loj hlob qeeb.
Tsis tas li ntawd xwb, nws tau pom tias qee tus neeg uas muaj PROS muaj qee qhov kev pheej hmoo ntawm kev mob qog noj ntshav, vim tias qhov kev hloov pauv ntawm PIK3CA gene no kuj pom muaj nyob rau hauv cov hlwb qog noj ntshav hauv cov neeg uas tsis muaj PROS.
Tsis txhob ntshai qhov no yam tsis tsim nyog. Qhov tseem ceeb tshaj plaws yog tham nrog koj tus kws kho mob txog qhov kev pheej hmoo no. Tom qab ntawd, koj tuaj yeem ua qhov kev kuaj mob tsim nyog raws sijhawm thiab saib seb puas muaj kev pheej hmoo ntawm qhov xwm txheej zoo li no. Koj tus kws kho mob yuav saib xyuas koj tus menyuam tus mob tas li thiab muab cov lus qhia tsim nyog.
Cov Lus Qhia Txog Kev Coj Mus Tsev
- PROS yog ib pawg mob uas tshwm sim los ntawm kev hloov pauv hauv cov noob caj noob ces 'PIK3CA'. Qhov no tsis yog tshwm sim los ntawm qhov txhaum ntawm niam txiv.
- Qhov no tsis yog ib yam kab mob uas los ntawm noob caj noob ces. Tsuas yog vim ib tug ntawm koj cov menyuam muaj tus kab mob no xwb tsis tau txhais hais tias lwm cov menyuam yuav muaj tus kab mob no thiab.
- Cov tsos mob yuav txawv ntawm ib tug me nyuam mus rau ib tug me nyuam. Qee qhov yuav muaj teeb meem me me, thaum lwm tus yuav muaj teeb meem loj heev.
- Txawm hais tias tsis muaj kev kho rau PROS, cov tsos mob tuaj yeem tswj tau zoo heev nrog kev phais thiab tshuaj.
- Nws yog ib qho tseem ceeb heev uas yuav tsum tham nrog koj tus kws kho mob yam qhib siab thiab tsis tu ncua txog txhua yam kev txhawj xeeb lossis kev ntshai uas koj muaj txog koj tus menyuam tus mob, kev kho mob, thiab yav tom ntej.
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Tsis muaj lus teb tau muab tso tawm. Ntxiv koj cov lus tawm ntawm no thawj zaug.
Ntxiv koj cov lus