Koj tus me nyuam puas muaj tus kab mob tawv nqaij tsawg tsawg no? Cia peb tham txog Harlequin Ichthyosis

Feem ntau cov tawv nqaij ntawm tus menyuam mos mos mos thiab du thiab mos heev, puas yog? Tab sis xav txog nws, qee zaum qee tus menyuam yug los muaj cov mob tawv nqaij uas tsis tshua muaj, me ntsis loj heev. Ib qho mob tawv nqaij uas tsis tshua muaj, thiab thaum xub thawj siab ib muag, hu ua Harlequin Ichthyosis. Tej zaum koj yuav txhawj me ntsis thaum koj hnov ​​txog qhov no, tab sis cia peb tham txog nws kom meej thiab yooj yim.

Harlequin Ichthyosis yog dab tsi?

Hais yooj yim xwb, Harlequin Ichthyosis yog ib yam mob tawv nqaij uas tsis tshua muaj neeg paub txog thiab cuam tshuam rau cov menyuam mos. Thaum ib tug menyuam yug los muaj tus mob no, tag nrho lawv lub cev puv nrog cov tawv nqaij tuab, tawv, thiab tawv nqaij. Lawv zoo li daim pob zeb diamond. Cov tawv nqaij no tawv heev uas lawv tuaj yeem tawg thiab tev tawm.

Qhov tawv nqaij nruj no tuaj yeem hloov pauv tus menyuam lub ntsej muag. Cov cheeb tsam xws li pob ntseg, qhov muag, qhov ntswg, thiab qhov ncauj yuav ncab thiab tsis zoo. Tsis yog li ntawd xwb, tab sis kev txav ntawm ob txhais ceg yuav raug txwv, thiab nws yuav nyuaj rau noj thiab ua pa.

Peb daim tawv nqaij zoo li ib daim ntaub thaiv ntawm peb lub cev thiab ib puag ncig. Tab sis hauv qhov teeb meem no ntawm Harlequin Ichthyosis, daim ntaub thaiv no raug cuam tshuam vim muaj cov teeb meem tsis zoo no hauv daim tawv nqaij ntawm tus menyuam. Tom qab ntawd, ntawm no yog cov teeb meem uas tshwm sim:

• Nws nyuaj rau tswj kev tso dej tawm ntawm lub cev.
• Qhov kub ntawm lub cev tsis tuaj yeem tswj tau zoo.
• Lub peev xwm los tawm tsam kev kis kab mob txo qis.

Qhov no ua rau tus menyuam mos yooj yim raug lub cev qhuav dej thiab muaj kab mob loj heev uas yuav ua rau tuag taus hauv ob peb lub lis piam thawj zaug ntawm lub neej. Tom qab lub sijhawm yug menyuam mos, cov khaubncaws sab nraud tuab ntawd maj mam tev tawm, ua rau daim tawv nqaij liab thiab tawv nqaij thoob plaws tus menyuam.

Harlequin Ichthyosis yog hom kab mob tawv nqaij ichthyosis hnyav tshaj plaws. Muaj ntau tshaj 20 hom ichthyosis sib txawv. Piv txwv li lamellar ichthyosis thiab ichthyosis vulgaris. Yav dhau los, cov menyuam mos uas yug los nrog Harlequin Ichthyosis muaj feem yuav ciaj sia tsawg heev. Txawm li cas los xij, nrog kev kho mob siab heev thiab kev kho mob hnyav, cov menyuam mos muaj feem yuav ciaj sia thaum yau thiab thaum hluas.

Kab mob no muaj lwm lub npe hu ua:

• "Autosomal recessive congenital ichthyosis — harlequin type ichthyosis"
• 'Harlequin baby syndrome'
• 'Tus menyuam Harlequin'
• `Ichthyosis congenita`
• `Ichthyosis fetalis`

Tus mob no feem ntau tshwm sim li cas?

Qhov no yog ib qho mob tsis tshua muaj. Txawm tias nyob hauv lub tebchaws zoo li Tebchaws Meskas, tus kab mob no cuam tshuam txog li ib tus ntawm txhua 300,000 txog 500,000 tus menyuam mos uas yug los.Qhov no yog qhov xwm txheej uas tsis tshua muaj pom hauv Sri Lanka.

Cov tsos mob ntawm Harlequin Ichthyosis yog dab tsi?

Cov menyuam mos uas muaj tus kab mob Harlequin Ichthyosis feem ntau yug ua ntej lub sijhawm. Thaum lawv yug los, lawv lub cev puv nrog cov nplai tuab zoo li phaj. Daim tawv nqaij tuab heev ua rau muaj qhov sib cais tob ntawm cov nplai. Tsis tas li ntawd, tus menyuam lub qhov muag thiab daim di ncauj tig sab hauv vim daim tawv nqaij ncab. Lub hauv siab thiab lub plab ncab nruj nreem, ua rau nws nyuaj rau ua pa thiab noj mov.

Nov yog qee cov tsos mob ntxiv:

• Muaj lub qhov ntswg tiaj tus.
• Cov pob ntseg tau muab tso rau zoo li lawv tau txuas rau lub taub hau.
• Tes thiab taw me me thiab o.
• Kev hnov ​​lus tsis zoo.
• Kab mob ua pa ntau zaus.
• Txo kev txav mus los ntawm cov pob qij txha.
• Qhov kub ntawm lub cev qis.

Dab tsi ua rau qhov no?

Qhov ua rau muaj tus kab mob Harlequin Ichthyosis yog kev hloov pauv ntawm cov noob caj noob ces hu ua ABCA12 . Cov noob caj noob ces ABCA12 no qhia peb lub cev kom tsim cov protein uas tseem ceeb rau kev loj hlob ntawm cov hlwb tawv nqaij noj qab haus huv. Ib qho ntawm cov haujlwm tseem ceeb tshaj plaws ntawm cov protein no yog thauj cov lipids mus rau txheej sab nraud ntawm daim tawv nqaij, epidermis, thiab tsim ib daim thaiv kev tiv thaiv.

Rau cov neeg uas muaj tus kab mob no, lub cev tsim cov protein ABCA12 me me xwb los yog tsis tsim li. Qhov no cuam tshuam kev loj hlob ntawm daim tawv nqaij, ua rau muaj cov tsos mob hnyav.

Tus mob no yog tau txais los ntawm txoj kev autosomal recessive. Hais yooj yim xwb, qhov no txhais tau tias tus menyuam yuav tsum tau txais ob daim qauv ntawm cov noob caj noob ces uas cuam tshuam - ib daim los ntawm niam thiab ib daim los ntawm txiv. Ob leeg niam txiv tuaj yeem yog cov neeg nqa cov noob caj noob ces hloov pauv. Qhov no txhais tau tias lawv muaj cov noob caj noob ces, tab sis feem ntau tsis qhia cov tsos mob.

Tej yam teeb meem uas yuav tshwm sim yog dab tsi?

Cov teeb meem ntawm Harlequin Ichthyosis tuaj yeem sib txawv ntawm qhov hnyav. Qee qhov teeb meem suav nrog:

• Cov plaub hau loj hlob qeeb.
• Cov kev hloov pauv ntawm cov rau tes.
• Daim tawv nqaij feem ntau khaus.
• Nyuaj siab rau qhov kub thiab txias.
• Cov kab mob ntawm daim tawv nqaij rov tshwm sim dua.
• Kev tsis sib npaug ntawm cov electrolyte hauv lub cev.
• Ua kom cov leeg nqaij, cov leeg nqaij, daim tawv nqaij, thiab lwm cov nqaij tawv tawv thiab tawv.
• Kev ua pa tsis zoo thiab ua tsis tau haujlwm.
• Sepsis yog ib qho kab mob bacterial uas kis tau sai sai thiab hnyav heev.

Yuav kuaj mob li cas?

Feem ntau, cov kws kho mob tuaj yeem kuaj mob thaum yug los raws li tus menyuam lub cev zoo li cas. Yog tias ib tug neeg hauv tsev neeg tau muaj tus mob no ua ntej, kev kuaj noob caj noob ces ua ntej yug menyuam tuaj yeem ua tau thaum cev xeeb tub.Cov kws kho mob yuav pom zoo kom kuaj seb puas muaj kev hloov pauv hauv cov noob ABCA12. Tsis tas li ntawd, qee zaum kev kuaj ultrasound ua thaum lub sijhawm thib ob thiab thib peb ntawm cev xeeb tub tuaj yeem pom cov cim ntawm tus mob.

Cov kev kho mob rau Harlequin Ichthyosis yog dab tsi?

Thaum tus menyuam mos uas muaj tus mob no yug los, nws yuav raug xa mus rau Chav Saib Xyuas Menyuam Mos (NICU) . Nyob ntawd, tus menyuam mos yuav raug muab tso rau hauv lub tshuab ua kom sov uas muaj av noo ntau kom pab tswj tus menyuam lub cev kub. Nov yog li cas cov kws tu mob saib xyuas tus menyuam mos:

• Pub niam mis ntau zaus.
• Ntxuav koj lub cev tsis tu ncua kom cov tawv nqaij mos thiab pab tshem tawm cov nplai.
• Yuav kom tshem tawm cov nplai, qee zaum maj mam txhuam nrog ib yam dab tsi zoo li pob zeb pumice lossis daim txhuam cev ntxhib.
• Siv cov tshuaj moisturizers los txo qhov qhuav ntawm daim tawv nqaij thiab muab daim tawv nqaij elasticity.

Yog tias koj tus menyuam muaj mob Harlequin Ichthyosis hnyav, koj tuaj yeem kho nws nrog cov tshuaj retinoid hu ua etretinate . Cov tshuaj no pab tshem tawm cov tawv nqaij tuab thiab tawv. Nws kuj tseem tuaj yeem pab txo cov tsos mob xws li loog ntawm cov ntiv tes, ua pa nyuaj, nruj hauv siab, thiab noj mov nyuaj. Txawm li cas los xij, cov tshuaj retinoids no tuaj yeem ua rau muaj kev phiv loj heev thaum siv ntev, yog li cov kws kho mob tsuas yog siv lawv yog tias koj tus menyuam muaj cov tsos mob hnyav.

Kev Saib Xyuas Mob Hnyav (NICU)

Thaum koj tus menyuam nyob hauv chav saib xyuas menyuam mos (NICU), cov kws kho mob tshwj xeeb thiab cov neeg ua haujlwm saib xyuas menyuam yuav saib xyuas koj tus menyuam ze heev. Lawv ib txwm saib xyuas qhov kub ntawm lub cev, cov kua dej, thiab cov cim qhia tias muaj kab mob . Lawv siv cov ntaub qhwv thiab tshuaj pleev tshwj xeeb kom daim tawv nqaij noo. Qee zaum, tus menyuam yuav tsum tau pub mis los ntawm lub raj mis.

Cov tshuaj tshwj xeeb

Ntxiv rau cov tshuaj retinoids uas tau hais los saum toj no, koj tseem yuav xav tau cov tshuaj tua kab mob kom tiv thaiv kev kis kab mob, cov tshuaj loog mob, thiab cov tshuaj pleev kom txo qhov qhuav thiab khaus. Tag nrho cov no yuav tsum siv raws li koj tus kws kho mob qhia.

Pawg kho mob mus sij hawm ntev

Txawm hais tias koj tuaj yeem coj koj tus menyuam mus tsev tom qab cov tawv nqaij tuab poob tawm lawm, koj tseem yuav xav tau kev kho mob thiab kev saib xyuas tas mus li. Harlequin Ichthyosis xav tau kev pab los ntawm pab pawg kws kho mob ntau yam. Pab pawg no yuav suav nrog:

• cov kws kho mob menyuam yaus
• Cov kws kho mob tawv nqaij
• Cov kws phais yas
• Cov kws tshawb fawb txog noob caj noob ces
• kws kho qhov muag
• Cov kws kho mob pob ntseg, qhov ntswg, thiab caj pas (Otolaryngologists)
• Cov kws kho lub cev
• Cov kws kho pob txha
• Cov kws noj haus

Pawg kws kho mob no ua haujlwm los muab kev kho mob tsim nyog rau tus menyuam thoob plaws nws lub neej.

Yog tias kuv tus menyuam muaj tus mob no, kuv yuav cia siab li cas?

Kab mob Harlequin Ichthyosis yog ib yam mob uas mob ntev mus tas li, uas txhais tau tias nws yuav tsum tau saib xyuas mus tas li. Yog li ntawd, nws yog ib qho tseem ceeb uas yuav tsum nrhiav ib tus kws kho mob tawv nqaij uas tshwj xeeb hauv qhov mob no. Qhov no yuav ua kom koj tus menyuam tau txais kev kho mob tsim nyog thoob plaws lawv lub neej. Nws tseem yog ib qho tseem ceeb uas yuav tsum tsim kom muaj kev saib xyuas tawv nqaij txhua hnub uas yuav pab tswj cov teeb meem tawv nqaij (tawv nqaij tawg, tawv nqaij tawg, khaus). Cov kev saib xyuas no yuav tsum tau ua raws li thoob plaws lawv lub neej.

Ntxiv rau qhov teeb meem ntawm daim tawv nqaij, tus menyuam cov ntiv tes thiab cov ntiv taw yuav tuab thiab tawv . Qhov no yuav ua rau nws nyuaj rau tuav tej yam. Tsis tas li ntawd, cov pob luj taws thiab lub hauv caug yuav tawv, ua rau nws nyuaj rau taug kev. Kuj tseem yuav muaj qee qhov kev ncua sij hawm hauv tus menyuam txoj kev loj hlob thiab kev loj hlob . Txawm li cas los xij, kev loj hlob ntawm lub hlwb yuav tsum tshwm sim li qub.

Kev saib xyuas ib tug me nyuam zoo li no yog ib qho nyuaj, tab sis nws yog ib qho tseem ceeb heev uas yuav tsum ua raws li cov lus qhia kho mob, kev hlub, thiab kev ua siab ntev.

Yuav ua li cas thiaj pom tau tus kab mob no?

Txawm hais tias muaj kev kho mob zoo rau Harlequin Ichthyosis los xij, hmoov tsis zoo, qee tus menyuam mos tseem tuag los ntawm tus mob no. Hauv ib txoj kev tshawb fawb, 44% ntawm cov menyuam mos uas yug los nrog tus mob no tau tuag. Cov ua rau tuag hauv thawj peb lub hlis ntawm lub neej yog sepsis, ua pa tsis ua haujlwm, lossis ob qho tib si ua ke.

Txawm li cas los xij, kev kho mob thaum ntxov nrog cov tshuaj xws li cov tshuaj retinoids noj tau pom tias ua rau muaj kev ciaj sia ntau dua. Hauv tib txoj kev tshawb fawb uas tau hais ua ntej, 83% ntawm cov menyuam mos uas tau kho nrog cov tshuaj retinoids noj tau ciaj sia.

Puas tiv thaiv tau kab mob Harlequin Ichthyosis?

Qhov no yog ib qho mob uas los ntawm noob caj noob ces thiab peb tsis tuaj yeem tiv thaiv tau. Yog tias ib tug neeg hauv koj tsev neeg muaj tus mob no, lossis tau muaj nws yav dhau los, nws yog ib lub tswv yim zoo los tham nrog kws kho mob txog kev kuaj noob caj noob ces lossis kev sab laj txog noob caj noob ces . Cov ntaub ntawv ntawd tuaj yeem pab tau thaum txiav txim siab txog kev muaj lwm tus menyuam.

Kuv yuav saib xyuas kuv tus menyuam li cas?

Yog koj tus menyuam muaj tus mob no, ntawm no yog qee yam los pab saib xyuas nws:

• Kawm txog koj tus menyuam tus mob kom zoo. Nyeem cov ntaub ntawv txhim khu kev qha thiab sim ua tus kws tshaj lij txog qhov no.
• Ua kom tus me nyuam noj qab nyob zoo li sai tau.Muab cov khoom noj muaj txiaj ntsig zoo, xyuas kom lawv tau tawm dag zog txaus, thiab coj lawv mus kuaj mob raws sijhawm.
• Nrhiav seb yam twg zoo rau koj tus menyuam. Txhua tus menyuam txawv. Yam uas zoo rau ib tus neeg tej zaum yuav tsis zoo rau lwm tus. Tsim kom muaj kev saib xyuas daim tawv nqaij txhua hnub uas haum rau koj tus menyuam cov kev xav tau.
• Xav txog ib puag ncig ntawm tus menyuam. Qhov chaw qhuav, txias, lossis kub dhau, nrog rau "kev yuam cua sov," tuaj yeem ua rau tus menyuam daim tawv nqaij qhuav thiab tsis muaj zog. Qhov no kuj tseem tuaj yeem cuam tshuam rau tus menyuam txoj kev noj qab haus huv tag nrho.
• Khaws ib lub thawv khoom siv rau kev saib xyuas daim tawv nqaij. Ib txwm khaws ib lub hnab nrog cov khoom uas koj tus menyuam xav tau, xws li tshuaj pleev thaiv hnub, tshuaj pleev, thiab tshuaj tua kab mob.
• Muab qee lub luag haujlwm rau koj tus menyuam. Maj mam me ntsis, koj tus menyuam yuav kawm paub saib xyuas lawv daim tawv nqaij. Muab qee lub luag haujlwm rau koj tus menyuam rau lawv cov kev xav tau kev saib xyuas daim tawv nqaij.
• Thaum tseem yog menyuam yaus: Txhawb kom muaj kev saib xyuas daim tawv nqaij thiab pub niam mis rau menyuam.

Cov lus nug tseem ceeb uas yuav tsum nug koj tus kws kho mob

Yog koj tus menyuam muaj tus kab mob Harlequin Ichthyosis, tej zaum koj yuav muaj ntau lo lus nug. Nov yog qee cov lus nug uas koj tuaj yeem nug tus kws kho mob:

• Puas yog Harlequin Ichthyosis mob heev?
• Vim li cas qhov no thiaj hnyav dua li lwm hom ichthyosis?
• Koj xav kom kuv tus menyuam kho li cas?
• Kuv yuav pab kuv tus menyuam ua neej li cas?
• Dab tsi yog cov yam ua rau tus menyuam mob hnyav dua thiab yuav tsum zam?
• Puas tsis zoo dua rau kuv tus menyuam tawm mus rau hauv lub hnub?
• Kuv yuav tsum ceev faj txog lwm yam teeb meem lossis tej yam kev noj qab haus huv twg?
• Kuv yuav nrhiav tau ib lub koom haum txhawb nqa zoo nyob qhov twg?

Thaum kawg, nco ntsoov qhov no ! (Cov Lus Coj Mus Tsev)

Nws yog ib qho ib txwm muaj uas yuav ntshai thiab xav tsis thoob thaum koj pom tias koj tus menyuam muaj tus mob tsis tshua muaj xws li Harlequin Ichthyosis. Tej zaum koj yuav xav tias koj nyob ib leeg thiab tsis paub tseeb tias yuav ua li cas. Tab sis qhov tseem ceeb tshaj plaws yog nrhiav cov kws kho mob uas paub txog tus kab mob no. Lawv tuaj yeem pab koj tus menyuam tswj hwm tus mob, thiab coj koj mus nrhiav kev pab thiab kev txhawb nqa uas koj xav tau.

Kev tham nrog lwm cov niam txiv ntawm cov menyuam uas muaj cov mob zoo sib xws tuaj yeem yog qhov chaw zoo ntawm lub zog. Los ntawm kev sib qhia cov kev paub dhau los thiab cov lus qhia, koj tuaj yeem nrhiav txoj hauv kev los pab koj tus menyuam kom nyob zoo. Nws tsis yooj yim pom koj tus menyuam nyob nrog tus kab mob tawv nqaij tsawg, tab sis nco ntsoov, muaj ntau tus menyuam uas nyob zoo siab nrog cov mob no. Koj tsis nyob ib leeg. Nrog kev paub, kev txhawb nqa, thiab kev hlub, koj tuaj yeem ntsib qhov kev cov nyom no.

`Harlequin Ichthyosis, kab mob tawv nqaij caj ces, mob tawv nqaij menyuam mos, ABCA12 gene, ichthyosis, daim tawv nqaij thaiv, kev saib xyuas menyuam mos, retinoids