Puas muaj leej twg hauv koj tsev neeg muaj kab mob Danon? Cia peb tham txog nws!

Koj puas tau hnov ​​txog Kab Mob Danon? Lub npe no tej zaum yuav tshiab me ntsis rau koj. Nws yog ib yam kab mob uas tsis tshua muaj, uas tsis cuam tshuam rau ntau tus neeg. Tab sis nws tsim nyog paub txog vim nws tuaj yeem cuam tshuam rau lub plawv, cov leeg nqaij, qhov muag, thiab txawm tias lub hlwb. Cia peb tham txog nws kom meej hnub no.

Kab mob Danon yog dab tsi?

Hais yooj yim xwb, Kab mob Danon yog ib yam mob tsis tshua muaj uas peb cov noob caj noob ces kis tau los ntawm ib tiam dhau ib tiam. Nws tuaj yeem ua rau ntau qhov ntawm peb lub cev puas tsuaj, tshwj xeeb tshaj yog lub plawv, cov leeg, daim tawv muag, thiab lub hlwb . Txawm li cas los xij, tsis yog txhua tus yuav muaj cov tsos mob zoo ib yam, nws txawv ntawm ib tus neeg mus rau ib tus neeg.

Kab mob Danon yog ib pawg kab mob loj hu ua 'Lysosomal Storage Disorders' (LSD). Muaj ntau tshaj 50 hom kab mob nyob rau hauv pawg no. Xav txog, hauv peb lub hlwb muaj cov khoom zoo li cov chaw tsim khoom me me hu ua 'lysosomes'. Lub luag haujlwm tseem ceeb ntawm cov no yog rhuav tshem thiab ntxuav cov khoom tsis tsim nyog thiab cov khib nyiab uas tsim tawm hauv cov hlwb. Nws zoo li tshem tawm cov khib nyiab hauv peb lub tsev.

Yog li ntawd, cov hlwb ntawm ib tug neeg uas muaj tus kab mob 'Lysosomal Storage Disorder' no tsis muaj peev xwm ua txoj haujlwm no kom raug. Tom qab ntawd yuav ua li cas? Cov khoom tsis xav tau, cov tshuaj lom, pib sib sau ua ke hauv cov hlwb. Raws li lub sijhawm dhau mus, cov tshuaj lom no ua rau cov hlwb puas tsuaj thiab, los ntawm lawv, cov kabmob. Qhov no yog qhov tshwm sim hauv tus kab mob Danon.

Kab mob no yog los ntawm niam txiv los . Qhov no txhais tau tias feem ntau nws kis tau los ntawm niam txiv mus rau menyuam yaus. Tshwj xeeb, cov tub hluas muaj feem yuav mob thiab muaj cov tsos mob hnyav dua li cov ntxhais.

Cov tsos mob ntawm tus kab mob Danon yog dab tsi?

Txawm hais tias cov tsos mob ntawm tus kab mob Danon txawv ntawm ib tus neeg mus rau ib tus neeg, muaj ntau yam tsos mob tseem ceeb uas tuaj yeem pom:

• Kab mob plawv (Cardiomyopathy): Feem ntau qhov no yog thawj cov tsos mob uas tshwm sim. Nws tuaj yeem suav nrog mob hauv siab lossis nruj, qaug zog, co lossis ntaus hauv siab. Qee zaum, ua pa luv luv thiab o ntawm ob txhais ceg kuj tuaj yeem tshwm sim.
• Cov leeg tsis muaj zog (Myopathy): Xav txog, koj muaj teeb meem zaum hauv lub rooj zaum, taug kev, lossis koj hnov ​​​​​​qhov tsis muaj zog ntawm koj nraub qaum, caj dab, xub pwg nyom, caj npab sab saud, lossis ceg sab saud. Yog tias koj yog menyuam yaus, koj yuav tsis xav khiav thiab ua si, lossis koj yuav muaj teeb meem nce ntaiv. Cov no yog cov tsos mob ntawm cov leeg tsis muaj zog.
• Teeb meem qhov muag (Retinopathy): Qhov no tuaj yeem ua rau pom kev tsis meej, qhov muag ntab, lossis lub teeb ci ntsa iab. Qhov no tuaj yeem ua rau nws nyuaj rau nyeem ntawv lossis saib TV.
• Kev tsis taus ntawm lub hlwb: Cov no feem ntau tshwm sim rau cov tub hluas. Cov teeb meem kev coj cwj pwm, xws li kev hloov pauv ntawm tus cwj pwm thaum nyob ib puag ncig lwm tus, thiab kev hais lus lossis kev qeeb lus, yog qhov tshwm sim ntau. Txawm hais tias tsis tshua muaj, cov teeb meem kev puas siab puas ntsws kuj tuaj yeem tshwm sim. Piv txwv li suav nrog kev nyuaj siab rau kev tsom mus rau kev ua haujlwm hauv tsev kawm ntawv thiab qeeb ntawm kev kawm tej yam tshiab.

Yuav ua li cas poj niam txiv neej cuam tshuam

Rau cov tub hluas, cov tsos mob feem ntau pib tshwm sim thaum lawv tseem hluas, uas yog, thaum lawv tseem yog menyuam yaus lossis thaum lawv tseem hluas . Thiab cov tsos mob no feem ntau tuaj yeem loj hlob sai thiab hnyav zuj zus.

Tiam sis thaum koj saib cov ntxhais, qee zaum yuav tsis muaj tsos mob li. Los yog, cov tsos mob yuav tshwm sim thaum kawg ntawm lub hnub nyoog hluas lossis thaum laus. Cov tsos mob ntawm cov ntxhais feem ntau tshwm sim qeeb dua, thiab feem ntau tsis hnyav heev. Txawm li cas los xij, nws yog ib qho tseem ceeb uas yuav tsum nco ntsoov tias qee zaum lawv tuaj yeem hnyav heev.

Cov Hom Kab Mob Cardiomyopathy

Muaj ob hom kab mob plawv loj uas pom muaj nyob rau hauv kab mob Danon:

• Kab mob plawv dhia ceev heev (Hypertrophic Cardiomyopathy): Qhov no yog hom kab mob uas pom ntau tshaj plaws. Hais yooj yim xwb, nws yog ib qho mob uas cov leeg plawv tuab zuj zus tsis zoo li qub.
• Kab mob plawv dhia ceev: Qhov no feem ntau tshwm sim rau cov poj niam. Qhov no yog qhov uas cov chav plawv loj zuj zus thiab lub plawv qaug zog.

Dab tsi yog cov ua rau muaj kab mob Danon?

Qhov ua rau muaj kab mob Danon yog kev hloov pauv, lossis kev hloov pauv, hauv ib hom noob tshwj xeeb hu ua 'LAMP2'. Raws li koj paub, txhua yam hauv peb lub cev yog tswj los ntawm cov noob. Ib yam li software hauv lub computer, cov noob no kuj qhia peb lub cev ua haujlwm.

Yog li ntawd, cov kws tshawb fawb ntseeg tias thaum muaj kev hloov pauv hauv cov noob 'LAMP2' no, muaj qee qhov teeb meem nrog phab ntsa lossis daim nyias nyias ntawm lub cell hu ua lysosome uas kuv tau hais ua ntej. Txawm li cas los xij, tseem tsis tau muaj kev nkag siab meej 100 feem pua ​​​​​​txog qhov tseeb tias tus kab mob no tshwm sim li cas. Kev tshawb fawb tseem tab tom ua mus ntxiv rau qhov ntawd.

Yuav kuaj mob li cas txog tus kab mob Danon?

Yog koj lossis koj tus kws kho mob pom cov tsos mob ntawm tus kab mob Danon, lawv yuav xav tias muaj. Koj tus kws kho mob mam li nug koj txog koj cov tsos mob. Tsis tas li ntawd xwb, lawv yuav ua ntau yam kev kuaj mob kom paub tseeb tias yog tus kab mob Danon thiab tshem tawm lwm yam mob.

Feem ntau, kev kuaj DNA (kev kuaj noob caj ces) pab kuaj mob no. Qhov no tuaj yeem txiav txim siab tau meej tias puas muaj kev hloov pauv hauv cov noob 'LAMP2'.

Nyob ntawm seb koj cov tsos mob zoo li cas, koj tus kws kho mob yuav pom zoo kom kuaj ntxiv. Piv txwv li:

• Kev kuaj ntshav (Kev kuaj ntshav hauv chaw soj ntsuam).
• Kev kuaj qhov muag.
• Ib qho ultrasound.
• Kev kuaj mob los ntawm kev siv CT scan (computed tomography).
• Kev kuaj MRI (kev thaij duab magnetic resonance).
• Kev kuaj cov leeg nqaij ntawm cov pob txha ( ib daim me me ntawm cov leeg nqaij raug coj mus kuaj).

Kuj tseem muaj kev kuaj plawv tshwj xeeb kom pom tias lub plawv ua haujlwm zoo li cas:

• Kev kuaj lub plawv - kev kuaj lub plawv (siv ib daim me me ntawm lub plawv los kuaj).
• MRI ntawm lub plawv.
• Kev kuaj ECG (Electrocardiogram - EKG) (sau cov hluav taws xob ntawm lub plawv).

Muaj lwm yam mob dab tsi zoo sib xws li Kab Mob Danon?

Muaj qee yam mob uas cov tsos mob yuav zoo ib yam li Kab Mob Danon. Yog vim li ntawd nws thiaj li tseem ceeb kom tau txais kev kuaj mob kom raug. Nov yog ob peb yam kab mob uas muaj cov tsos mob zoo sib xws:

• Kab mob khaws cia glycogen hauv lub plawv (GSD) txij thaum yug los.
• Kab mob autophagic vacuolar myopathy rau menyuam yaus.
• Lwm yam kab mob plawv, piv txwv li sarcomeric hypertrophic cardiomyopathy lossis dilated cardiomyopathy.
• Kab mob Pompe.
• Wolff-Parkinson-White (WPW) syndrome - Qhov no qee zaum pom ua ke nrog Danon kab mob.
• X-linked myopathy nrog ntau dhau autophagy.

Qhov no yuav zoo li nyuaj me ntsis, tab sis cov kws kho mob xav txog txhua yam no thiab tuaj txog qhov kev kuaj mob tseeb.

Cov kev kho mob rau tus kab mob Danon yog dab tsi?

Kev kho mob rau tus kab mob Danon nyob ntawm seb koj cov tsos mob thiab lawv qhov hnyav npaum li cas. Koj pab neeg kho mob yuav ua haujlwm nrog koj los tsim ib txoj kev npaj kho mob uas zoo tshaj plaws rau koj. Qhov no yuav suav nrog:

• Cov khoom siv pab: Piv txwv li, tsom iav lossis lwm yam khoom pab pom kev, khoom pab hnov ​​lus, lub cuab yeej taug kev, lossis lub rooj zaum muaj log.
• Kev kho mob hlwb - kev kho mob tham lossis kev kho mob hais lus.
• Yog tias muaj kev tsis taus hauv kev kawm, kev txhawb nqa kev kawm muaj.
• Kev kho lub cev kom cov leeg muaj zog.

Rau cov teeb meem plawv, koj tus kws kho mob tshwj xeeb yuav pom zoo cov yam xws li:

• Ib lub tshuab ua kom lub plawv dhia ceev (ICD) uas muab cog rau hauv lub plawv siv yog siv los kho cov teeb meem plawv dhia tsis xwm yeem (arrhythmia).Yog qhov no ua rau lub plawv dhia tsis xwm yeem, nws tuaj yeem kho tau.
• Lub Holter monitor los sau koj lub plawv ua haujlwm thoob plaws hnub.
• Cov tshuaj siv los tswj cov teeb meem plawv, tshwj xeeb yog cardiomyopathy.
• Cov kev kho mob xws li ablation therapy los kho cov plawv dhia tsis sib xws.

Yog tias tus kab mob cardiomyopathy hnyav zuj zus sai sai, tej zaum yuav tsum tau hloov lub plawv . Kev kuaj mob thiab kev kho mob thaum ntxov yog qhov tseem ceeb kom tiv thaiv cov teeb meem uas yuav ua rau tuag taus xws li kev tuag sai sai ntawm lub plawv thiab kev ua tsis tau haujlwm ntawm lub plawv thaum ntxov .

Leej twg thiaj li koom tau nrog kuv pab neeg kho mob?

Thaum kho tus kab mob Danon, ib tus kws kho mob tsis txaus. Nws xav tau ib pab pawg kws tshwj xeeb. Cov kws tshwj xeeb no ua haujlwm nrog koj tus Kws Kho Mob Qib Siab (PCP) los pab koj. Koj pab neeg yuav suav nrog:

• Kws Kho Mob Plawv: Ib tug kws kho mob tshwj xeeb hauv lub plawv thiab cov hlab ntsha.
• Cov kws kho mob qhov muag / Kws kho qhov muag: Rau cov teeb meem ntsig txog qhov muag.
• Kws Tshawb Fawb Txog Genetics: Ib tug neeg uas tshwj xeeb hauv kev tshawb fawb txog genetics.
• Kws Kho Mob Hlwb: Ib tug kws kho mob uas tshwj xeeb hauv lub hlwb, cov hlab ntsha, thiab cov hlab ntsha.
• Kws tshwj xeeb txog cov leeg nqaij thiab cov hlab ntsha: Ib tug kws tshwj xeeb hauv cov leeg thiab cov hlab ntsha.

Nyob ntawm koj tus mob thiab cov kev mob tshwm sim uas koj ntsib, pab neeg kho mob no yuav saib xyuas koj cov tshuaj thiab kev kho mob thiab ua txhua yam kev hloov pauv uas tsim nyog.

Kab mob Danon puas kho tau?

Tu siab kawg li, tsis muaj tshuaj kho tau tus kab mob Danon. Txawm li cas los xij, koj tus kws kho mob tuaj yeem pom zoo cov kev kho mob uas tuaj yeem pab tswj koj cov tsos mob thiab tswj koj txoj kev noj qab haus huv thiab lub neej zoo tshaj plaws. Yog li qhov tseem ceeb tshaj plaws yog ua raws li koj tus kws kho mob cov lus qhia yam tsis ntshai.

Kab mob Danon zoo li cas?

Qhov uas tus kab mob Danon yuav cuam tshuam rau koj li cas, nyob ntawm ntau yam. Cov no suav nrog koj cov tsos mob, lawv hnyav npaum li cas, thiab tus kab mob loj hlob sai npaum li cas. Koj tus kws kho mob tuaj yeem qhia koj zoo tshaj plaws txog koj tus mob.

Kab Mob Danon thiab Lub Neej

Qhov nruab nrab, lub neej ntev ntawm cov txiv neej uas muaj kab mob Danon yog li ntawm 19 xyoo, thiab cov poj niam yog li ntawm 34 xyoo. Muaj ntau tus neeg xav tau kev hloov plawv. Nws yog ib qho ntuj tsim uas yuav ntshai thaum koj pom cov ntaub ntawv no. Tab sis nco ntsoov, cov no tsuas yog qhov nruab nrab xwb. Txhua tus neeg txawv.

Koj pab neeg kho mob yuav ua haujlwm nrog koj los tswj koj cov tsos mob. Lawv kuj tseem yuav qhia koj txog qhov chaw uas koj thiab koj tsev neeg tuaj yeem tau txais kev txhawb nqa uas koj xav tau.

Kuv puas txo tau qhov kev pheej hmoo ntawm kev mob Danon rau kuv tus menyuam?

Kab mob Danon yog tshwm sim los ntawm kev hloov pauv caj ces. Yog li ntawd, tsis muaj dab tsi koj ua tau los txo qhov kev pheej hmoo ntawm kev mob rau koj tus menyuam. Yog tias ib tug neeg hauv koj tsev neeg muaj Kab Mob Danon, nws yog ib lub tswv yim zoo los tham nrog koj tus kws kho mob txog kev kuaj caj ces ua ntej yug menyuam, uas tuaj yeem ua tau thaum cev xeeb tub .

Leej twg yog tus thawj uas tau tshawb pom kab mob Danon?

Tus kab mob no tau piav qhia thawj zaug hauv xyoo 1981 los ntawm tus kws kho mob hlwb Asmeskas Maurice Danon, MD . Nws tau xaus lus no tom qab kuaj xyuas ob tug neeg mob hluas uas muaj teeb meem kev txawj ntse, lub plawv loj (cardiomegaly), thiab cov leeg tsis muaj zog (proximal myopathy).

Kev nrhiav pom koj muaj tus mob caj ces tsis tshua muaj li no yuav nyuaj thiab ua rau koj ntxhov siab heev. Thaum koj pib nyob nrog tus mob no, sim ua txhua hnub. Nrhiav kev txhawb nqa los ntawm koj pab neeg kho mob, cov phooj ywg, thiab tsev neeg. Vim tias tus mob no tsis tshua muaj, koj kuj yuav tsum qhia rau lwm tus txog nws. Txawm tias online, nws yuav nyuaj rau nrhiav lwm tus neeg uas nyob hauv qhov xwm txheej zoo sib xws. Txawm li cas los xij, koj tuaj yeem nrhiav kev txhawb nqa hauv cov pab pawg uas coj cov neeg mob thiab tsev neeg uas muaj lwm yam kab mob tsis tshua muaj lossis mob plawv los ua ke.

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

Kab mob Danon yog ib yam mob nyuaj heev. Txawm li cas los xij, nco ntsoov cov no:

• Kab mob Danon yog ib yam kab mob uas muaj los ntawm noob caj noob ces. Nws tsis yog los ntawm leej twg ua txhaum.
• Cov tsos mob tsis zoo ib yam rau txhua tus. Muaj qhov sib txawv ntawm cov txiv neej thiab cov poj niam.
• Nws yog ib qho tseem ceeb heev uas yuav tsum kuaj mob thaum ntxov thiab pib kho. Qhov no yuav pab txo tau cov teeb meem.
• Txawm hais tias tus kab mob no kho tsis tau tag nrho los xij, muaj kev kho mob uas tuaj yeem tswj cov tsos mob.
• Koj tsis yog tib leeg xwb. Ib pab neeg kws kho mob, tsev neeg, thiab cov pab pawg txhawb nqa uas muaj peev xwm pab koj.
• Kev qhia txog noob caj ces tuaj yeem tseem ceeb heev rau tsev neeg.

Thaum koj ua raws li cov kev kho mob uas koj cov kws kho mob pom zoo thiab nyob rau hauv lawv txoj kev qhia, koj tuaj yeem ua lub neej zoo tshaj plaws. Peb vam tias cov ntaub ntawv no yuav pab tau koj.

`Kab mob Danon, kab mob Danon, kab mob caj ces, kab mob plawv, Cardiomyopathy, cov leeg tsis muaj zog, Lysosomal Storage Disorder, LAMP2 gene