Wolfram Syndrome yog dab tsi? Cia peb tham txog nws!

Koj puas tau hnov ​​txog Wolfram Syndrome? Lub npe tej zaum yuav tshiab rau koj. Nws yog ib qho mob caj ces tsawg tsawg uas cuam tshuam rau ob peb tus neeg xwb, tab sis nws tuaj yeem ua rau mob hnyav heev. Nws tuaj yeem ua rau koj lub hlwb thiab lwm cov nqaij hauv koj lub cev puas tsuaj. Nws yog ib qho tseem ceeb uas yuav tsum paub txog qhov mob no, tshwj xeeb tshaj yog vim cov tsos mob tuaj yeem pib tshwm sim thaum yau.

Wolfram Syndrome yog dab tsi tiag?

Hais yooj yim xwb, Wolfram syndrome yog ib yam mob caj ces uas kis tau los ntawm ib tiam dhau ib tiam. Nws yog ib qho kev puas tsuaj rau lub hlwb, uas txhais tau tias nws ua rau lub hlwb thiab lub paj hlwb puas tsuaj mus tas li. Qhov no ua rau cov tsos mob maj mam tshwm sim, feem ntau pib thaum yau thiab txuas ntxiv mus txog thaum laus. Mob ntshav qab zib thiab teeb meem pom kev feem ntau yog thawj cov cim qhia ntawm tus kab mob ua ntej hnub nyoog 15 xyoos. Raws li lub sijhawm dhau mus, kev ua haujlwm ntawm lub hlwb tuaj yeem ua rau tsis zoo thiab qee zaum ua rau tuag taus.

Puas muaj hom mob Wolfram Syndrome?

Yog lawm, cov kws kho mob tau pom ob hom noob caj noob ces uas cuam tshuam nrog tus kab mob no. Koj paub, noob caj noob ces yog cov DNA me me uas muaj tag nrho cov ntaub ntawv hauv peb lub cev. Cov neeg uas muaj Wolfram syndrome muaj qee qhov kev hloov pauv hauv cov noob caj noob ces no, uas peb hu ua kev hloov pauv. Yog li, nws raug faib ua pawg raws li noob caj noob ces uas cuam tshuam:

• Wolfram syndrome hom 1: Qhov no yog tshwm sim los ntawm kev hloov pauv hauv cov noob hu ua "WFS1 gene".
• Wolfram syndrome hom 2: Qhov no yog tshwm sim los ntawm kev hloov pauv hauv cov noob hu ua '(WFS2 (CISD2) gene)'.

Tej zaum yuav muaj qhov sib txawv me ntsis ntawm cov tsos mob ntawm ob hom no.

Tus kab mob no tau txais los ntawm leej twg?

Feem ntau, yog ib tug me nyuam muaj tus mob Wolfram syndrome, ob leeg niam txiv yuav tsum yog cov neeg nqa cov noob caj noob ces uas ua rau muaj tus kab mob no. Qhov no txhais tau tias tus me nyuam yuav tsum tau txais cov noob caj noob ces uas hloov pauv los ntawm ob leeg niam txiv. Txawm li cas los xij, tsis tshua muaj, tus mob Wolfram syndrome hom 1 tuaj yeem tau txais los ntawm ib tug niam txiv xwb.

Wolfram Syndrome no muaj ntau npaum li cas?

Vim tias nws yog ib qho mob tsis tshua muaj, nws nyuaj rau hais tias muaj pes tsawg tus neeg muaj nws. Ib txoj kev tshawb fawb pom tias hauv tebchaws United Kingdom, tus mob no cuam tshuam txog ib tus neeg ntawm 770,000 tus neeg . Kev tshawb fawb los ntawm lwm lub tebchaws tau qhia tias tus mob no tshwm sim ntau dua hauv qee thaj chaw, tshwj xeeb tshaj yog hauv cov zej zog uas cov txheeb ze ze sib yuav thiab muaj menyuam.

Tus mob Wolfram syndrome hom 2 no tsis tshua muaj. Tsuas yog muaj neeg tshaj tawm tias muaj ob peb tsev neeg thoob ntiaj teb xwb.

Cov tsos mob tseem ceeb ntawm Wolfram syndrome hom 1 yog dab tsi?

Tsis yog txhua tus neeg uas muaj tus mob Wolfram syndrome hom 1 yuav muaj cov tsos mob zoo ib yam, thiab lawv tuaj yeem sib txawv ntawm ib tus neeg mus rau ib tus neeg. Txawm li cas los xij, feem ntau, cov tsos mob no tshwm sim raws li qee qhov kev txiav txim, thaum yau thiab thaum hluas. Nov yog qhov kev txiav txim ib txwm muaj, thiab hnub nyoog ib txwm muaj uas cov tsos mob tshwm sim:

• Kab Mob Ntshav Qab Zib - Feem ntau thaum muaj hnub nyoog 6 xyoos: Kab mob ntshav qab zib yog teeb meem nrog lub cev lub peev xwm los nqus cov suab thaj, lossis glucose, los ntawm cov khoom noj uas peb noj. Feem ntau, peb lub pancreas tsim cov tshuaj hormones hu ua insulin. Cov insulin no pab peb cov hlwb nqus cov suab thaj los ntawm cov ntshav. Yog li, yog tias insulin tsis tsim tawm zoo, lossis yog tias cov hlwb tsis teb rau cov insulin uas tsim tawm zoo, cov ntshav qab zib tuaj yeem siab heev. Kab mob ntshav qab zib cuam tshuam nrog Wolfram syndrome zoo ib yam li Kab Mob Ntshav Qab Zib Hom 1, tab sis nws tsis yog kab mob autoimmune. Cov tsos mob ntawm kab mob ntshav qab zib suav nrog kev tso zis ntau zaus, nqhis dej ntau dhau, pom kev tsis meej, thiab poob phaus tsis paub meej .

• Qhov muag Atrophy - Feem ntau tshwm sim thaum muaj hnub nyoog 11 xyoos: Qhov no yog qhov maj mam lwj ntawm cov hlab ntsha optic, uas nqa cov lus los ntawm lub qhov muag mus rau lub hlwb. Qhov no kuj hu ua Optic Atrophy. Cov tsos mob yuav suav nrog pom kev tsis meej, tsis meej, tsis pom xim, lossis tsis pom kev . Piv txwv li, cov ntawv ntawm ntawv xov xwm yuav tsis meej li yav dhau los, lossis tus menyuam yuav tsis pom lub rooj tsavxwm hauv tsev kawm ntawv lawm.

• Kev hnov ​​​​​​lus tsis zoo - Feem ntau tshwm sim thaum muaj hnub nyoog 13 xyoos: Qhov no yog kev hnov ​​​​​​lus tsis zoo los ntawm kev puas tsuaj rau cov khoom rhiab heev ntawm pob ntseg sab hauv. Qhov no hu ua kev hnov ​​​​​​lus tsis zoo. Qhov kev hnov ​​​​​​lus tsis zoo no tuaj yeem hnyav zuj zus thaum muaj hnub nyoog, thiab qee zaum , nws tuaj yeem ua rau lag ntseg tag nrho. Koj yuav tsum tig lub TV kom hnov, lossis koj yuav tsum nug "Koj nyuam qhuav hais dab tsi?" thaum ib tug neeg tab tom tham.

• Kab mob ntshav qab zib Insipidus - Feem ntau thaum muaj hnub nyoog 14 xyoos: Qhov no puas yog kab mob ntshav qab zib '(Diabetes Mellitus)' uas tau hais los saum toj no? Qhov no hu ua '(Diabetes Insipidus)'. Qhov tshwm sim hauv qhov no yog tias cov tshuaj hormones '(antidiuretic hormone)' uas tswj cov dej hauv peb cov zis tsis tsim tawm kom raug, lossis lub cev tsis teb rau nws kom raug. Qhov no ua rau muaj ntau cov zis tawm, uas zoo li ntau cov dej. Vim yog qhov no tso zis ntau dhau, lub cev qhuav dej, electrolyte tsis sib npaug, qaug zog, qhov ncauj qhuav, thiab cem quav tuaj yeem tshwm sim.

Wolfram syndrome muaj lub npe qub, "(DIDMOAD)" . Nws yog tsim los ntawm kev muab cov tsiaj ntawv thawj zaug ntawm cov tsos mob tseem ceeb no ua ke:

* Ntshav Qab Zib Insipidus (DI) - Mob plab

* Kab mob ntshav qab zib (DM) - Kab mob ntshav qab zib

* Kev puas tsuaj ntawm qhov muag (OA) - Kev pom kev tsis zoo

* Lag ntseg (D) - Tsis hnov ​​lus zoo/lag ntseg

Lwm cov tsos mob ntawm Wolfram syndrome hom 1 yog dab tsi?

Ntxiv rau plaub yam tsos mob tseem ceeb no, tej zaum yuav muaj lwm yam tsos mob tshwm sim. Tab sis cov no tsis tshwm sim rau txhua tus neeg.

• Cov teeb meem hormone: Hypopituitarism, hypogonadism, kev loj hlob qeeb, thiab kev pib muaj hli qeeb rau cov ntxhais.
• Cov tsos mob ntsig txog lub paj hlwb: tsis ruaj khov thaum taug kev thiab txav mus los (ataxia), tsis nco qab thiab tsis xav tau dab tsi (dementia), mob taub hau, tsis ua pa ib ntus thaum pw tsaug zog (central sleep apnea), qaug dab peg (epilepsy), thiab tsis saj thiab tsis hnov ​​tsw.
• Teeb meem ntawm lub hlwb: kev nyuaj siab, kev ntxhov siab, kev ntshai heev, kev hloov pauv ntawm lub siab, thiab qee zaum kev coj cwj pwm phem.
• Teeb meem ntawm cov kab mob tso zis: Muaj kab mob hauv cov zis ntau zaus, tso zis tsis tau, thiab tso zis tsis tau tag.

Cov tsos mob ntawm Wolfram syndrome hom 2 yog dab tsi?

Cov neeg uas muaj tus mob Wolfram syndrome hom 2 muaj cov tsos mob zoo ib yam li hom 1. Txawm li cas los xij, lawv kuj tseem yuav muaj cov tsos mob hauv qab no:

• Kev los ntshav txawv txawv.
• Cov kab mob plab hnyuv.

Txawm li cas los xij, cov neeg uas muaj hom 2 feem ntau muaj tsawg dua qhov mob hu ua ntshav qab zib insipidus thiab teeb meem kev puas siab puas ntsws.

Dab tsi ua rau muaj Wolfram Syndrome?

Raws li peb tau tham txog lawm, qhov no yog tshwm sim los ntawm cov yam ntxwv caj ces. Qhov ua rau tseem ceeb yog kev txais cov noob caj ces '(WFS1)' lossis '(WFS2 (CISD2)' los ntawm niam txiv mus rau cov menyuam.

Yuav kuaj mob li cas?

Qhov tseeb, kev kuaj mob Wolfram syndrome tej zaum yuav nyuaj me ntsis. Vim tias cov kws kho mob yuav kho txhua yam tsos mob sib cais, lawv yuav tsis paub tam sim ntawd tias lawv txhua tus yog ib feem ntawm tib yam kab mob. Feem ntau, tsuas yog tom qab ntau yam tsos mob tshwm sim xwb ces kev xav tias nws yuav yog Wolfram syndrome.

Yog tias tus kws kho mob xav tias qhov no, nws yuav pom zoo kom kuaj noob caj noob ces.Qhov kev kuaj no tuaj yeem ntes tau qhov tseeb seb puas muaj kev hloov pauv hauv cov noob caj noob ces `(WFS1)` thiab `(WFS2 (CISD2)`. Qhov no tuaj yeem lees paub qhov kev kuaj mob.

Yuav kho tus mob Wolfram Syndrome li cas?

Tu siab kawg li, tam sim no tsis muaj kev kho mob uas siv tau los kho tus kab mob no kom zoo, tiv thaiv kom tus kab mob tsis txhob loj hlob sai, lossis ua kom qeeb qeeb. Tam sim no, txhua yam uas ua tau yog tswj cov tsos mob uas tshwm sim. Piv txwv li:

• Cov neeg uas muaj mob ntshav qab zib mellitus raug muab tshuaj insulin los tswj lawv cov ntshav qab zib.
• Cov khoom siv pab hnov ​​lus tuaj yeem siv rau cov neeg uas hnov ​​lus tsis zoo.
• Lwm cov tsos mob kuj raug kho raws li ntawd.

Puas muaj kev kho mob tshiab uas tab tom tshawb nrhiav?

Yog lawm, qhov no yog xov xwm zoo! Cov kws tshawb nrhiav tseem niaj hnub nrhiav kev kho mob tshiab uas tuaj yeem txhim kho lub neej zoo rau cov neeg uas muaj tus mob Wolfram syndrome. Nov yog qee qhov kev kho mob uas tam sim no tau txais kev saib xyuas ntau tshaj plaws:

• Cov tshuaj uas txo qhov kev puas tsuaj rau cov cell uas tshwm sim los ntawm kev cuam tshuam ntawm cov protein ua haujlwm.
• Kev kho mob gene kho cov gene `(WFS1)` thiab `(WFS2 (CISD2)` uas tau hloov pauv lossis hloov lawv nrog cov gene zoo.
• Kev kho mob rov qab kho dua tshiab yog kev kho mob uas kho cov nqaij uas puas lawm lossis tsim cov nqaij tshiab.

Qee cov kev kho mob no twb nyob rau hauv kev sim tshuaj kho mob lawm. Lwm cov tseem nyob rau theem tshawb fawb. Tham nrog koj tus kws kho mob txog cov kev kho mob tshiab no. Nws yuav muaj peev xwm qhia rau koj seb lawv puas yog rau koj lossis koj tus menyuam.

Puas tiv thaiv tau Wolfram Syndrome?

Tu siab kawg li, cov mob caj ces zoo li Wolfram syndrome tsis tuaj yeem tiv thaiv tau.

Tus kab mob no puas ua rau tuag taus?

Cov neeg uas muaj tus mob Wolfram syndrome feem ntau muaj kev kwv yees tsis zoo. Hauv ib txoj kev tshawb fawb ntawm 45 tus neeg mob, lawv lub neej ntev li ntawm 25 thiab 49 xyoo, nrog rau lub neej nruab nrab li ntawm 30 xyoo. Feem ntau, qhov ua rau tuag yog qhov qaug zog ntawm lub hlwb, qhov ntawm lub hlwb uas tswj cov haujlwm tseem ceeb xws li kev ua pa thiab lub plawv dhia.

Txawm li cas los xij, qhov xwm txheej no zoo dua me ntsis vim muaj kev txhim kho cov txheej txheem kuaj mob, kev txhim kho hauv kev tswj cov tsos mob, thiab kev cia siab rau cov kev kho mob tshiab.

Thaum twg koj yuav tsum nrog kws kho mob tham txog kev kuaj noob caj noob ces?

Yog tias ib tug neeg hauv koj tsev neeg muaj tus mob Wolfram syndrome, lossis muaj keeb kwm ntawm tus mob no, nws yog ib qho tseem ceeb uas yuav tsum tham nrog koj tus kws kho mob txog kev kuaj noob caj noob ces. Kev kuaj ntshav yooj yim lossis cov qauv qaub ncaug tuaj yeem qhia koj:

• Koj muaj feem yuav muaj menyuam nrog tus kab mob no li cas?
• Ua ntej cov tsos mob tshwm sim, nrhiav seb koj tus menyuam puas muaj mob Wolfram syndrome.

Txawm hais tias tam sim no tsis muaj kev kho rau Wolfram syndrome, kev tshawb fawb thiab kev sim tshuaj kho mob tau pom tias muaj kev cia siab rau kev kho mob tshiab. Yog tias koj lossis ib tus neeg hauv koj tsev neeg muaj Wolfram syndrome, nug koj tus kws kho mob txog cov kev sim tshuaj kho mob no.

Nyob nrog tus kab mob tsis tshua muaj xws li Wolfram Syndrome tuaj yeem nyuaj heev, thiab nws tuaj yeem ua rau koj ntxhov siab heev. Tab sis nco ntsoov, koj yeej tsis nyob ib leeg. Nug koj tus kws kho mob kom tau kev txhawb nqa, cov ntaub ntawv, thiab tej zaum yuav pab koj txuas nrog lwm tus uas tab tom dhau los ntawm tib yam. Kev txhawb nqa zoo li ntawd tuaj yeem pab tau zoo heev.

Thaum kawg, tej yam yuav tsum nco ntsoov (Cov Lus Coj Mus Tsev)

Wolfram Syndrome yog ib qho mob caj ces uas tsis tshua muaj thiab nyuaj. Txawm li cas los xij, nws yog ib qho tseem ceeb uas yuav tsum paub txog nws, paub txog cov tsos mob thaum ntxov, thiab nrhiav kev kho mob kom tsim nyog.

• Ceev faj txog cov cim qhia thaum ntxov: Nrhiav kev pab tswv yim los ntawm kws kho mob, tshwj xeeb yog tias ib tug me nyuam muaj mob ntshav qab zib (Diabetes Mellitus) thiab teeb meem pom kev (Optic Atrophy) thaum tseem hluas.
• Kev Qhia Txog Genetic yog Qhov Tseem Ceeb: Yog tias ib tug neeg hauv koj tsev neeg muaj tus kab mob no, xav txog kev qhia thiab kuaj noob caj ces.
• Cov tsos mob tuaj yeem tswj tau: Txawm hais tias tam sim no tseem tsis tau muaj kev kho mob tag nrho, cov tsos mob tuaj yeem kho tau thiab lub neej zoo tuaj yeem tswj tau qee yam.
• Cia siab rau cov kev kho mob tshiab: Kev tshawb fawb tseem txuas ntxiv mus, yog li peb tuaj yeem cia siab rau kev kho mob zoo dua yav tom ntej.
• Koj tsis nyob ib leeg: Nws yuav nyuaj rau kom muaj lub siab tawv hauv qhov xwm txheej zoo li no. Txawm li cas los xij, nrhiav kev pab los ntawm cov kws kho mob, tsev neeg, thiab cov pab pawg txhawb nqa.

Vam tias cov ntaub ntawv no yuav pab tau koj. Yog tias koj muaj kev txhawj xeeb dab tsi, tsis txhob hnov ​​qab mus ntsib kws kho mob.

Wolfram Syndrome, kab mob caj ces, ntshav qab zib, qhov muag tsis pom kev, hnov ​​lus tsis zoo, kab mob ntawm lub paj hlwb, DIDMOAD