Koj tus menyuam puas muaj cov tsos mob no? Cia peb kawm txog Cohen Syndrome.

Koj puas tau xav tias vim li cas qee tus menyuam yaus thiaj coj tus cwj pwm thiab loj hlob txawv ntawm lwm tus? Qee zaum, txawm tias tej yam me me kuj muaj zaj dab neeg loj tom qab lawv. Hnub no, peb yuav tham txog ib qho mob caj ces uas cuam tshuam rau ntau yam rau cov menyuam yaus, xws li lawv qhov tsos, kev loj hlob, thiab lub zog ntawm cov leeg. Qhov mob no hu ua Cohen Syndrome.

Cohen Syndrome yog dab tsi?

Hais yooj yim xwb, Cohen Syndrome yog ib yam mob uas tshwm sim los ntawm kev hloov pauv caj ces. Nws tuaj yeem cuam tshuam rau ntau qhov ntawm lub cev, suav nrog kev pom kev, kev loj hlob ntawm menyuam yaus, cov leeg nqaij, thiab kev txawj ntse. Nws kuj tseem tuaj yeem ua rau muaj cov tsos mob ntawm lub cev xws li lub taub hau me, cov plaub hau tuab, thiab luv.

Cov menyuam yaus uas yug los nrog tus mob no muaj kev loj hlob qeeb . Qhov no txhais tau tias tej yam xws li dov, taug kev, thiab tham lus yuav lig dua li qhov xav tau. Piv txwv li, thaum koj tus phooj ywg tus menyuam yuav dov thaum muaj rau lub hlis, tus menyuam uas muaj tus mob no yuav siv sijhawm ntev dua. Txawm li cas los xij, txawm tias muaj cov kev ncua no los xij, cov menyuam no feem ntau qab zib heev, zoo siab, thiab sib raug zoo. Lawv muaj kev hlub tshua thaum lawv luag nyav thiab tham lus.

Qhov no yog tshwm sim los ntawm kev hloov pauv ntawm cov noob caj noob ces, thiab tam sim no tsis muaj kev kho. Txawm hais tias feem ntau cov neeg uas muaj Cohen Syndrome nyob tau lub neej zoo li qub, lawv yuav xav tau kev txhawb nqa thoob plaws lawv lub neej.

Tus mob no hu ua Cohen Syndrome no muaj ntau npaum li cas?

Qhov tseeb, Cohen Syndrome tsis yog ib yam mob uas pom ntau heev. Qee qhov kev tshawb fawb qhia tias muaj tsawg dua 1,000 tus neeg thoob ntiaj teb tau kuaj pom tias muaj tus mob no. Txawm li cas los xij, vim tias feem ntau tsis tau kuaj pom tus mob no, tus lej tiag tiag yuav ntau dua. Yog li ntawd, nws yog ib qho tseem ceeb uas yuav tsum paub txog cov mob no.

Cov tsos mob ntawm Cohen Syndrome yog dab tsi?

Muaj ntau yam tsos mob ntawm Cohen Syndrome. Nws yog ib qho tseem ceeb uas yuav tsum nco ntsoov tias tsis yog txhua tus yuav muaj tag nrho cov tsos mob. Cia peb saib cov tsos mob tseem ceeb uas tuaj yeem pom:

• Teeb meem kev loj hlob ntawm lub hlwb: Qhov no txhais tau tias nws yuav siv sijhawm ntev me ntsis los kawm thiab nkag siab txog tej yam. Tej zaum koj yuav xav tau kev pab ntxiv nrog kev ua haujlwm hauv tsev kawm ntawv.
• Cov leeg nqaij tsis muaj zog (hypotonia): Ib qho kev xav tias lub cev tsis muaj zog lossis tsis khov kho. Qhov no tuaj yeem hnov ​​​​​​txawm tias thaum tsa tus menyuam.
• Kev txav mus los ntau dhau: Cov pob qij txha yoog tau yooj yim dhau. Ib txhia menyuam yaus yuav khoov lawv ob txhais ceg ua tej yam txawv txawv.
• Kev pom kev tsis meej (myopia) uas nce ntxiv thaum muaj hnub nyoog: Pom tej yam ze tab sis tsis pom tej yam deb kom meej. Qhov no nce ntxiv thaum muaj hnub nyoog, yog li nws yog ib qho tseem ceeb uas yuav tsum tau kuaj qhov muag tsis tu ncua.
• Kab mob Retinal dystrophy los yog chorioretinitis: Kev puas tsuaj rau ib feem ntawm lub qhov muag uas pab kom pom kev zoo. Qhov no tuaj yeem ua rau maj mam poob qhov muag pom kev.

Cov tsos mob uas cov menyuam mos tshiab tuaj yeem pom

Tej zaum koj yuav pom tej yam zoo li no rau cov menyuam mos tshiab:

• Qhov nyuaj ntawm kev pub niam mis: Qhov nyuaj ntawm kev pub niam mis rau tus menyuam.
• Qw tsis muaj zog los yog nrov heev: Tus me nyuam quaj tej zaum yuav txawv, qaug zog dua li niaj zaus.
• Ua pa nyuaj: Tus menyuam ua pa nyuaj.
• Nyuaj siab nce phaus: Tus menyuam mos qhov hnyav tsis nce raws li qhov xav tau.

Tseem ceeb heev: Yog tias koj tus menyuam ua pa nyuaj lossis zoo li tig xiav, hu rau 119 lossis koj tus xov tooj xwm txheej ceev hauv zos tam sim ntawd thiab coj nws mus rau tsev kho mob.

Kev loj hlob qeeb thiab tus cwj pwm

Cov menyuam yaus yuav xav tau sijhawm ntau dua los kawm thiab loj hlob dua li lwm tus uas muaj hnub nyoog li lawv. Qhov kev loj hlob qeeb no tuaj yeem pib thaum lawv tseem yog menyuam yaus. Piv txwv li, tej yam xws li dov thiab zaum ntawm lawv tus kheej yuav qeeb. Koj tus menyuam yuav pib taug kev tom qab muaj hnub nyoog 2 xyoos, tab sis ua ntej muaj hnub nyoog 5 xyoos. Nws kuj tseem yuav siv sijhawm ntev rau lawv pib tham.

Txawm hais tias qhov mob no tuaj yeem ua rau muaj qee qhov teeb meem kev coj cwj pwm , raws li tau hais ua ntej, feem ntau cov menyuam yaus muaj kev sib raug zoo thiab zoo siab. Lawv nyiam sib raug zoo thiab ua si nrog lwm tus.

Tiam sis nco ntsoov, cov tsos mob no tsis tshwm sim rau txhua tus menyuam tib yam. Tej zaum ib txhia menyuam yuav tsis muaj tag nrho cov tsos mob no.

Cov tsos mob ntawm Cohen Syndrome yog dab tsi?

Muaj ntau yam ntxwv ntawm lub ntsej muag thiab lub cev uas pom tau rau cov menyuam yaus uas muaj Cohen Syndrome. Qee yam ntawm cov no pom tau thaum yug los, thaum lwm yam pom tau thaum lawv loj hlob tuaj.

Cov yam ntxwv ntawm lub ntsej muag:

• Microcephaly: Lub taub hau me dua li qub.
• Cov plaub hau tuab, cov pob muag tuab, thiab cov plaub muag ntev.
• Qhov muag nqes mus rau hauv qab (cov kab nrib pleb palpebral zoo li nthwv dej): Cov tawv muag muaj cov duab zoo li nthwv dej.
• Lub qhov ntswg puag ncig.
• Qhov nrug luv luv ntawm lub qhov ntswg thiab daim di ncauj sab saud (philtrum).
• Cov hniav sab saud tawm los.
• Pob ntseg loj.

Qee yam ntawm cov yam ntxwv no yuav pom tseeb dua thaum tus menyuam loj hlob tuaj, feem ntau tom qab muaj hnub nyoog 5 xyoos.

Lwm yam ntxwv ntawm lub cev:

Ntxiv rau, lwm yam tsos mob ntawm lub cev feem ntau yuav tshwm sim thaum yau thiab tom qab ntawd. Cov no suav nrog:

• Cov rog tsis zoo li qub hauv thaj tsam lub cev thiab cov ceg nyias nyias: Qhov no txhais tau tias nruab nrab ntawm lub cev (nyob ib puag ncig lub plab) loj dua thiab cov ceg nyias dua.
• Luv luv.
• Kev laus zuj zus qeeb.
• Cov noob qes tsis nqis los rau hauv cov tub hluas.
• Kev nkhaus ntawm tus txha nqaj qaum (scoliosis lossis kyphosis).

Lwm yam mob dab tsi tuaj yeem tshwm sim nrog Cohen Syndrome?

Cov menyuam yaus uas kuaj pom tias muaj Cohen Syndrome muaj feem yuav mob lwm yam mob uas cuam tshuam rau lawv lub cev tiv thaiv kab mob. Nws yog ib qho tseem ceeb uas yuav tsum paub txog cov no thiab.

• Neutropenia: Qhov no yog qhov txo qis ntawm ib hom qe ntshav dawb (hu ua neutrophils) hauv lub cev. Cov neutrophils no tawm tsam cov kab mob thiab cov kab mob uas nkag mus rau hauv peb lub cev. Yog li thaum cov no qis, peb tuaj yeem mob tau yooj yim. Peb tuaj yeem kub taub hau, mob khaub thuas, thiab lwm yam kab mob.
• Cov mob autoimmune: Qhov no txhais tau hais tias lub cev lub cev tiv thaiv kab mob tawm tsam cov hlwb noj qab haus huv hauv lub cev. Xav txog nws zoo li peb cov tub rog tawm tsam peb. Piv txwv li suav nrog ntshav qab zib mellitus , kab mob thyroid, thiab kab mob celiac (kev ua xua rau cov protein gluten).

Dab tsi ua rau muaj Cohen Syndrome?

Cohen Syndrome yog tshwm sim los ntawm kev hloov pauv hauv VPS13B gene (tseem hu ua COH1 gene) . Hais yooj yim xwb, nws yog qhov tsis zoo hauv ib lub gene hauv peb lub cev.

Xav txog seb, hauv peb lub cev peb muaj ib yam dab tsi hu ua Golgi apparatus . Nws zoo li lub Hoobkas ntim cov protein. Thaum ib qho protein tshiab raug tsim, peb lub cev xa cov khoom siv raw mus rau Golgi apparatus, qhov chaw nws hloov kho qee yam thiab muab tso ua ke nrog lwm cov protein zoo sib xws los cais lawv. Tom qab cov kev hloov kho no tau ua tiav, Golgi apparatus ntim cov protein nrog lawv cov lus qhia thiab xa lawv mus rau lawv qhov chaw mus.

Tus VPS13B gene ua glycosylation tshwj xeeb, uas yog cov txheej txheem uas cov suab thaj molecules txuas nrog cov protein. Nws kuj pab npaj thiab xa cov cim rau cov neurons thiab cov hlwb rog (adipocytes) .

Yog li, thaum muaj kev hloov pauv hauv VPS13B gene, nws zoo li lub Hoobkas ntawd tsis tuaj yeem ua haujlwm tau zoo. Qhov ntawd txhais tau tias nws tsis tuaj yeem tsim cov khoom zoo. Qhov ntawd yog qhov ua rau muaj cov tsos mob ntawm Cohen Syndrome.

Cohen Syndrome puas yog los ntawm noob caj noob ces?

Yog, Cohen Syndrome yog ib yam mob uas los ntawm noob caj noob ces. Tus mob no kis tau los ntawm tus qauv autosomal recessive.Yog tias qhov no zoo li nyuaj me ntsis rau kev nkag siab, xav txog nws li no: Ib tug menyuam tau txais tus mob thaum lawv tau txais ob daim qauv ntawm cov noob caj noob ces uas ua rau nws (ib daim los ntawm lawv niam thiab ib daim los ntawm lawv txiv). Cov niam txiv yug los ua tus nqa cov noob caj noob ces. Qhov ntawd txhais tau tias lawv tsis muaj tus mob vim lawv tsuas muaj ib daim qauv ntawm cov noob caj noob ces uas tsis zoo. Daim qauv lwm daim yog noj qab nyob zoo. Txawm li cas los xij, yog tias ob tug nqa tuaj ua ke, muaj feem ntau uas lawv tus menyuam yuav muaj tus mob.

Leej twg muaj feem yuav raug qhov no tshaj?

Cohen Syndrome tuaj yeem cuam tshuam rau txhua tus neeg. Txawm li cas los xij, tus mob no feem ntau tshwm sim rau qee pawg neeg. Piv txwv li:

• Cov neeg Amish
• Cov neeg Finnish
• Cov neeg Greek (Mediterranean) keeb kwm
• Cov neeg Irish

Txawm hais tias qhov no tsis yog qhov tshwj xeeb rau peb hauv Sri Lanka, nws yog qhov zoo uas paub.

Cov teeb meem uas yuav tshwm sim ntawm Cohen Syndrome yog dab tsi?

Cohen syndrome tuaj yeem ua rau muaj cov teeb meem hauv qab no:

• Cov kab mob sib kis ntau zaus, xws li cov kab mob pob ntseg nruab nrab (otitis media) (vim tsis muaj zog tiv thaiv kab mob vim yog neutropenia)
• Cov teeb meem kev noj qab haus huv ntawm cov hniav thiab qhov ncauj xws li mob gingivitis thiab mob canker sores .
• Ua rau muaj teeb meem qhov muag ntau ntxiv.
• Kev tsis taus ntawm kev txawj ntse ntawm ntau theem.

Yuav kuaj mob Cohen Syndrome li cas?

Tus kws kho mob tuaj yeem kuaj pom Cohen Syndrome tom qab kuaj lub cev thiab lwm yam kev kuaj mob. Ua ib tug niam txiv, yog tias koj xav tias koj tus menyuam tsis tau loj hlob raws li nws lub hnub nyoog (piv txwv li, tsis luag nyav, tsis teb rau lub suab, tsis dov, tsis hais lus zoo li lwm tus menyuam), mus ntsib koj tus menyuam tus kws kho mob. Qhov no yuav yog ib qho cim qhia ntxov ntawm tus mob.

Kev kuaj mob Cohen Syndrome tej zaum yuav nyuaj vim tias nws cov tsos mob zoo ib yam li ntau lwm yam mob. Kev kuaj mob tuaj yeem pab koj tus kws kho mob tshem tawm cov mob no. Kev kuaj ntshav caj ces tuaj yeem txheeb xyuas qhov kev hloov pauv ntawm cov noob caj ces uas ua rau muaj cov tsos mob no.

Yuav kho tus mob Cohen Syndrome li cas?

Tam sim no tsis muaj tshuaj kho tau Cohen Syndrome. Kev kho mob feem ntau yog tsom mus rau kev tswj cov tsos mob thiab pab tus menyuam kom muaj sia nyob zoo li sai tau. Qhov no yuav suav nrog:

• Cov kev pab cuam kev kawm thaum ntxov: Cov kev pab cuam tshwj xeeb uas pab tus menyuam txoj kev loj hlob thiab kev kawm.
• Kev kho mob ua haujlwm: Kev kho mob uas pab koj ua haujlwm txhua hnub (xws li noj mov, hnav khaub ncaws, thiab ua si) ntawm koj tus kheej.
• Kev Kho Mob Lub Cev: Kev kho mob uas pab txhim kho kev txav mus los ntawm lub cev thiab cov leeg nqaij kom muaj zog. Qhov no tseem ceeb heev rau hypotonia.
• Kev Kho Mob Hais Lus: Kev kho mob uas pab txhim kho lub peev xwm hais lus thiab sib txuas lus nrog lwm tus.
• Hnav tsom iav los yog kev cob qhia uas tsis pom kev zoo.

Feem ntau cov neeg uas muaj tus kab mob Cohen Syndrome no yuav tsum txhaj tshuaj Granulocyte-Colony Stimulating Factor (G-CSF) rau hauv cov pob txha kom pab tsim cov qe ntshav dawb ntau dua, uas yuav pab txo qhov kev pheej hmoo ntawm kev kis kab mob.

Yog koj tus menyuam muaj mob ntau zaus, tus kws kho mob yuav sau ntawv kom siv tshuaj tua kab mob los kho lawv raws li qhov xav tau.

Lub neej cia siab ntawm ib tus neeg uas muaj Cohen Syndrome yog dab tsi?

Vim tias Cohen Syndrome tsis yog ib yam mob uas pom ntau heev, tsis muaj pov thawj txaus los hais tias nws cuam tshuam li cas rau lub neej ntawm ib tus neeg. Txawm hais tias ntau tus neeg uas muaj tus mob no nyob tau lub neej ib txwm muaj, tsis yog txhua tus neeg muaj. Qhov no yuav cuam tshuam rau lub neej, tshwj xeeb tshaj yog tias koj tus menyuam muaj lwm yam mob uas cuam tshuam rau lub cev tiv thaiv kab mob (xws li kev kis kab mob hnyav heev).

Yuav ua li cas thiaj paub tias Cohen Syndrome yuav muaj li cas?

Cohen Syndrome muaj peev xwm cuam tshuam rau ntau yam hauv koj tus menyuam lub neej. Txawm li cas los xij, yog tias kho kom zoo thiab saib xyuas zoo, lawv yuav muaj kev kwv yees zoo.

Tus kws kho mob yuav pom zoo ntau yam kev kho mob uas tsim los rau lawv cov tsos mob. Cov no yuav txawv ntawm ib tus neeg mus rau ib tus neeg. Kev kho mob feem ntau suav nrog kev kho mob thiab cov kev kawm. Cov no pab tus menyuam kom ncav cuag cov theem tseem ceeb ntawm kev loj hlob uas tsim nyog rau lawv lub hnub nyoog.

Koj tus menyuam tej zaum yuav muaj teeb meem pom kev thiab teeb meem hniav. Feem ntau cov no pib thaum lawv mus txog hnub nyoog kawm ntawv. Yog li ntawd, mus ntsib kws kho qhov muag , kws kho hniav, thiab lwm tus kws kho mob kom saib xyuas lawv cov tsos mob thaum lawv loj hlob tuaj.

Puas tiv thaiv tau Cohen Syndrome?

Vim Cohen Syndrome yog ib yam mob uas muaj los ntawm noob caj ces, tsis muaj ib txoj kev twg los tiv thaiv nws . Yog tias koj tab tom npaj yuav pib tsev neeg, thiab ib tug neeg hauv koj tsev neeg muaj tus mob no, lossis yog tias koj xav paub txog koj qhov kev pheej hmoo ntawm kev muaj ib tug menyuam uas muaj tus mob uas muaj los ntawm noob caj ces zoo li Cohen Syndrome, nws yog ib qho tseem ceeb heev uas yuav tsum tham nrog koj tus kws kho mob cev xeeb tub lossis tus kws kho mob txog kev kuaj noob caj ces/kev qhia tswv yim .

Kuv yuav tsum mus ntsib kws kho mob thaum twg?

Ua tus saib xyuas koj tus menyuam, koj paub nws zoo tshaj plaws. Yog tias koj pom muaj dab tsi txawv txawv lossis tsis zoo li qub hauv nws txoj kev loj hlob, hu rau nws tus kws kho mob. Tsis txhob ntshai tham txog nws, txawm tias nws tsuas yog ib qho me me xwb los xij.

Ua tib zoo mloog koj tus menyuam txoj kev loj hlob . Feem ntau cov menyuam uas kuaj pom tias muaj Cohen Syndrome siv sijhawm ntev dua los ua tiav cov theem tseem ceeb xws li dov thiab hais lawv thawj lo lus. Koj tus kws kho mob tuaj yeem qhia koj yuav ua li cas pab koj tus menyuam thaum lub sijhawm no.

Xwm Ceev! Yog tias koj tus menyuam muaj teeb meem ua pa, lossis muaj daim tawv nqaij thiab rau tes dawb lossis xiav, hu rau cov kev pabcuam xwm txheej ceev tam sim ntawd.

Kuv yuav tsum nug kuv tus kws kho mob li cas?

Thaum nrog tus kws kho mob tham txog koj tus menyuam, nws yuav pab tau yog tias nug cov lus nug zoo li no:

• Kuv yuav tsum ua li cas yog tias kuv tus menyuam tsis muaj cov theem tseem ceeb ntawm kev loj hlob?
• Kuv yuav tsum saib xyuas cov tsos mob twg?
• Koj pom zoo kom muaj kev kho mob dab tsi?
• Puas muaj tej yam tshwm sim ntawm kev kho mob?
• Kuv yuav pab kuv tus menyuam kom kawm tau zoo li cas hauv tsev kawm ntawv?
• Puas muaj lwm pawg niam txiv lossis cov koom haum uas peb tuaj yeem ncav tes mus rau kom tau kev txhawb nqa?

Puas yog Cohen Syndrome Autism?

Tsis yog. Autism Spectrum Disorder (ASD) yog ib yam kab mob ntawm lub hlwb . Cohen Syndrome yog ib yam mob uas muaj los ntawm noob caj noob ces. Ob yam no tsis zoo ib yam. Txawm li cas los xij, ntau tus menyuam uas kuaj pom tias muaj Cohen Syndrome yuav muaj cov tsos mob zoo ib yam li autism (ASD) (piv txwv li, muaj teeb meem hauv zej zog, ua tej yam rov ua dua), lossis tej zaum yuav muaj ASD nrog rau Cohen Syndrome. Tus kws kho mob tuaj yeem piav qhia qhov no kom meej meej.

Thaum kawg, yuav tsum nco ntsoov li cas (Cov Lus Coj Mus Tsev)

Nws yog ib qho ib txwm muaj uas yuav ntxhov siab thiab tu siab thaum koj tus menyuam tsis tau mus txog qhov kawg raws li lawv lub hnub nyoog. Nws kuj tseem yuav ua rau ntxhov siab ntxiv thaum cov kws kho mob kuaj seb muaj dab tsi tshwm sim. Txawm li cas los xij, txawm hais tias Cohen Syndrome yog ib qho mob tsis tshua muaj, cov kws kho mob tab tom kawm ntxiv txog qhov mob thiab yuav ua li cas tswj nws txhua hnub.

Cov kev pab cuam thaum ntxov tuaj yeem pab koj tus menyuam ua tiav lawv lub hom phiaj kev loj hlob, txawm tias nws yuav siv sijhawm ntev dua li lwm tus hnub nyoog lawv. Vim tias Cohen Syndrome kuj tseem tuaj yeem cuam tshuam rau tus menyuam lub peev xwm kev txawj ntse, lawv yuav xav tau koj txoj kev hlub, kev txhawb nqa, thiab kev pab thoob plaws lawv lub neej.

Tsis txhob xav tias koj nyob ib leeg.Cov kws kho mob, cov kws kho mob hlwb, thiab lwm pab pawg txhawb nqa yeej nyob ntawd los pab koj thiab koj tus menyuam. Nug koj cov lus nug, qhia koj txoj kev xav. Peb xav kom koj muaj lub zog los muab qhov zoo tshaj plaws rau koj tus menyuam!

Cohen Syndrome, Cov Kab Mob Genetic, Kev Loj Hlob qeeb, Kev Noj Qab Haus Huv ntawm Menyuam, Neutropenia, Microcephaly, Hypotonia