Koj puas paub txog tus mob ROHHAD Syndrome? Koj tus menyuam puas muaj cov tsos mob no?

Koj tus me nyuam puas tau pib loj hlob sai heev? Los yog koj puas tau pom tias lawv ua pa nyuaj thaum pw tsaug zog? Qee zaum cov no tuaj yeem yog cov cim qhia ntawm tus mob tsis tshua muaj hu ua ROHHAD Syndrome. Cia peb tham txog qhov no kom meej me ntsis, vim nws tseem ceeb heev uas yuav tsum paub txog tej yam zoo li no.

ROHHAD Syndrome yog dab tsi?

Hais yooj yim xwb, ROHHAD Syndrome yog ib yam mob uas tsis tshua muaj thiab ua rau tuag taus uas cuam tshuam rau cov menyuam yaus. Nws feem ntau cuam tshuam rau lub cev endocrine, lub paj hlwb autonomic, thiab kev ua pa. Cov menyuam yaus uas muaj tus mob no tuaj yeem hnyav dua hauv lub sijhawm luv luv . Lawv kuj tuaj yeem hloov pauv cov qauv ua pa, tus cwj pwm, thiab kev tswj hwm kev xav thaum pw tsaug zog thiab qee zaum thaum sawv.

Kab mob ROHHAD yog ib yam mob tshiab uas tsis tshua muaj neeg paub txog. Nws tau raug txheeb xyuas thiab piav qhia thawj zaug xyoo 1965. Xav txog nws, muaj tsawg dua 200 tus neeg mob no tau tshaj tawm thoob ntiaj teb. Yog li koj tuaj yeem xav txog nws tsawg npaum li cas. Cov kws kho mob tseem tab tom tshawb nrhiav tus mob no kom nrhiav tau qhov ua rau thiab nrhiav kev kho kom zoo. Tam sim no, tsis muaj kev kuaj mob lossis kev kho mob tshwj xeeb rau kab mob ROHHAD. Yog li ntawd, cov kws kho mob kho txhua tus menyuam raws li lawv cov tsos mob.

Cov tsos mob ntawm tus mob ROHHAD syndrome yog dab tsi?

Cov menyuam yaus uas muaj tus kab mob ROHHAD feem ntau muaj kev noj qab haus huv thiab loj hlob zoo li qub ua ntej cov tsos mob tshwm sim. Txawm hais tias cov tsos mob tuaj yeem tshwm sim thaum muaj hnub nyoog 9 xyoos, feem ntau cov menyuam yaus pom lawv cov tsos mob thawj zaug ntawm hnub nyoog 2 thiab 4 xyoos.

Lub npe 'ROHHAD' yog los ntawm cov tsiaj ntawv thawj zaug ntawm plaub yam tsos mob tseem ceeb ntawm tus kab mob no. Cia peb saib seb lawv yog dab tsi:

• (RO) Kev Rog Phem Sai Sai: Qhov no yog thaum tus menyuam txoj kev ntshaw zaub mov sai sai nce siab heev, ua rau nws hnyav nce li ntawm 20-30 phaus (9-13 kilograms) hauv lub sijhawm luv luv, feem ntau ntawm peb thiab kaum ob lub hlis. Qhov no feem ntau yog thawj qhov cim ntawm kev rog dhau. Xav txog nws, nws tsis yog tsuas yog nce qhov hnyav xwb, nws yog kev hloov pauv sai heev, pom tseeb.

• (H) Hypothalamic Dysregulation: Lub hypothalamus yog ib feem ntawm koj lub hlwb uas tswj lub qog pituitary. Nws kuj tswj ntau yam xws li kev loj hlob ntawm lub cev, qhov hnyav, kev noj mov, kev laus, kev xav, thiab tus cwj pwm. Yog li, yog tias muaj teeb meem hauv nws txoj haujlwm, tus menyuamTej zaum yuav muaj cov tsos mob xws li rog dhau, luv luv, qaug dab peg, loj hlob qeeb, tso zis ntau dua lossis tsawg dua, thiab laus sai lossis qeeb . Tsis tas li ntawd, tej yam mob xws li hypothyroidism thiab ntshav qab zib mellitus kuj tseem yuav tshwm sim.

• (H) Tsis ua pa: Cov menyuam yaus uas muaj tus kab mob ROHHAD tsis tuaj yeem tswj lawv txoj kev ua pa kom zoo. Qhov no txhais tau tias thaum cov pa oxygen hauv cov ntshav txo qis lossis cov pa roj carbon dioxide nce ntxiv, lub cev tsis ua pa tob lossis ua pa sai txaus los them rov qab. Qhov no yog ib qho mob txaus ntshai heev. Qee zaum, nws tuaj yeem tshwm sim sai sai, xws li tom qab muaj kab mob me me ntawm txoj hlab pa, xws li mob khaub thuas, lossis tom qab siv tshuaj loog.

• (AD) Kev Tsis Txawj Ua Haujlwm: Peb lub cev lub paj hlwb autonomic (ANS) tswj cov haujlwm tseem ceeb uas peb tswj tsis tau, xws li ua pa, zom zaub mov, lub plawv dhia ceev, thiab qhov kub ntawm lub cev. Yog li, cov menyuam yaus uas muaj kev puas tsuaj rau lub paj hlwb autonomic no yuav muaj cov tsos mob xws li lub plawv dhia qeeb qeeb (Bradycardia), qhov kub ntawm lub cev qis, thiab kev hnov ​​​​​​mob tsawg dua . Xav txog, kev hnov ​​​​​​mob tsawg dua txhais tau tias txawm tias muaj xwm txheej loj heev, tus menyuam yuav tsis paub txog nws.

Dab tsi yog cov ua rau muaj tus mob ROHHAD syndrome?

Qhov tseeb, cov kws kho mob tseem tsis tau pom qhov ua rau muaj tus mob ROHHAD syndrome no. Txawm li cas los xij, muaj peb lub tswv yim tseem ceeb uas tab tom tshawb nrhiav uas tuaj yeem piav qhia txog nws.

1. Kev Txheeb Xyuas Txog Genes: Muaj ntau tus kws tshawb fawb ntseeg tias tus kab mob ROHHAD yog los ntawm kev hloov pauv ntawm cov noob caj noob ces . Txawm li cas los xij, tseem tsis tau paub meej tias yog hom noob caj noob ces twg. Txhua yam hauv peb lub cev yog tswj los ntawm cov noob caj noob ces, yog li txhua yam kev hloov pauv hauv nws tuaj yeem cuam tshuam rau nws.

2. Epigenetics: Qee cov kws tshawb fawb ntseeg tias cov noob caj noob ces uas tswj qee yam haujlwm hauv peb lub cev tuaj yeem qhib thaum xav tau thiab kaw thaum tsis xav tau. Qhov no hu ua epigenetics. Lub tswv yim no yog raws li kev tshawb fawb uas tau ua rau cov menyuam ntxaib zoo sib xws. Hauv nws, ib tug menyuam tau mob ROHHAD syndrome, thaum lwm tus tsis tau mob. Yog li, nws tuaj yeem xav tias tsis yog cov noob caj noob ces xwb, tab sis kuj muaj qhov sib txawv ntawm txoj kev uas cov noob caj noob ces ua haujlwm yuav cuam tshuam rau qhov no.

3. Kev tiv thaiv kab mob los ntawm tus kheej: Qee qhov kev tshawb fawb qhia tias tus kab mob ROHHAD kuj yog ib qho kab mob tiv thaiv kab mob los ntawm tus kheej.Muaj kev sib txuas ntawm cov kab mob autoimmune, uas lub cev lub cev tiv thaiv kab mob tawm tsam nws cov hlwb. Hauv ib txoj kev tshawb fawb, ob tug menyuam uas muaj ROHHAD syndrome tau pom tias muaj cov tshuaj tiv thaiv hu ua immunoglobulins hauv cov kua dej cerebrospinal (CSF) , cov kua dej uas nyob ib puag ncig lub hlwb thiab tus txha caj qaum. Siv cov ntaub ntawv no, cov kws tshawb fawb tau xaus lus tias muaj kev o hauv lub paj hlwb hauv nruab nrab (CNS) , lub hlwb thiab tus txha caj qaum. Qhov no txhais tau tias lub cev lub cev tiv thaiv kab mob tau tawm tsam lub hlwb tsis raug.

Cov teeb meem ntawm tus mob ROHHAD syndrome yog dab tsi?

Ntxiv rau cov tsos mob tseem ceeb uas peb tau tham ua ntej, cov menyuam yaus uas muaj tus kab mob ROHHAD syndrome tuaj yeem muaj lwm yam teeb meem , uas yog, teeb meem kev noj qab haus huv ntxiv. Nws yog ib qho tseem ceeb uas yuav tsum paub txog cov no thiab:

• Teeb meem ntawm lub hlwb thiab tus cwj pwm: Cov menyuam no yuav muaj tej yam mob xws li tsis nyob twj ywm, chim siab, ua ub ua no ntau dhau, qaug zog tas li, ntxhov siab, nyuaj siab, thiab tsis muaj peev xwm txawj ntse . Tej no tuaj yeem cuam tshuam rau tus menyuam lub neej txhua hnub thiab tsev neeg.

• Teeb meem ntawm lub paj hlwb: Cov menyuam yaus uas muaj tus kab mob ROHHAD yuav muaj tej yam mob xws li qaug dab peg, qhov muag tsis txav (nystagmus), pw tsaug zog apnea, lossis kev loj hlob tsis zoo .

• Kev Mob Hlwb Hauv Lub Cev: Cov kev mob hlwb hauv lub cev uas feem ntau tshwm sim ntawm cov menyuam no yog Mob Ntshav Qab Zib, Kev Tsis Txawj Insulin, Kev Tsis Txawj glucose, thiab Kab Mob Siab Steatotic (fatty) (mob siab rog). Cov no yog cov mob uas yuav muaj teeb meem rau kev noj qab haus huv mus sij hawm ntev.

• Cov qog nqaij hlav ntawm cov hlab ntsha: Ntawm 40% thiab 56% ntawm cov menyuam yaus uas muaj tus kab mob ROHHAD syndrome muaj cov qog nqaij hlav ntawm cov hlab ntsha. Ib qho piv txwv yog ib hom qog nqaij hlav hu ua ganglioneuroma . Feem ntau ntawm cov qog nqaij hlav no yog cov qog nqaij hlav tsis muaj teeb meem , tab sis qee zaum lawv tuaj yeem yog cov qog nqaij hlav phem . Yog li ntawd, cov kws kho mob yeej ib txwm saib xyuas qhov no.

• Kev ua pa tsis taus: Qhov no yog qhov teeb meem txaus ntshai tshaj plaws. Nws yog kev ua pa tsis taus thiab lub plawv tsis ua haujlwm tam sim ntawd. Qhov no tuaj yeem ua rau tuag taus.

Yuav kuaj mob ROHHAD syndrome li cas? (Kev kuaj mob)

Tam sim no, tus mob ROHHAD hu uaTsis muaj ib qho kev kuaj mob twg uas tuaj yeem lees paub qhov kev kuaj mob. Hloov chaw, ib pab pawg kws kho mob ua haujlwm ua ke los kuaj mob raws li tus menyuam cov tsos mob sib xyaw ua ke . Nws zoo li tus kws tshawb nrhiav, sau cov pov thawj thiab xaus lus.

Yuav kom kuaj tau tias muaj tus mob ROHHAD syndrome, ib tug menyuam yuav tsum ua tau raws li cov qauv hauv qab no:

• Yuav tsum muaj ob qho tsos mob ntawm kev rog dhau sai sai thiab hypoventilation thaum pw tsaug zog.
• Yuav tsum muaj cov tsos mob ntawm kev ua haujlwm tsis zoo ntawm hypothalamic (piv txwv li, qhov hnyav nce sai, hypothyroidism, lossis kev hloov pauv hauv kev laus - thaum ntxov lossis lig).
• Nws yog ib qho tseem ceeb kom paub tseeb tias tsis muaj kev hloov pauv (gene variant) hauv cov gene 'PHOX2B'. Qhov no yog ib qho tseem ceeb kom paub qhov txawv ntawm 'CCHS (Congenital Central Hypoventilation Syndrome),' lwm yam mob uas muaj qee cov tsos mob zoo ib yam li ROHHAD syndrome (piv txwv li, ua pa tsawg dua thaum pw tsaug zog).
• Cov tsos mob no tej zaum yuav tsis pom tseeb rau ob peb xyoos thawj zaug ntawm lub neej. Feem ntau lawv pib tom qab.

Vim tias tus mob ROHHAD yog ib yam mob uas tsis tshua muaj, feem ntau cov menyuam yaus yuav raug kuaj tsis raug thaum xub thawj. Yog li ntawd, yog tias koj muaj cov tsos mob no, nws yog ib qho tseem ceeb heev uas yuav tsum nrhiav kev qhia kom zoo los ntawm pab pawg kws kho mob uas muaj kev paub dhau los.

Yuav kho tus mob ROHHAD li cas? (Kev Kho Mob)

Kev kho mob rau tus mob ROHHAD txawv ntawm ib tug menyuam mus rau ib tug menyuam, nyob ntawm seb cov tsos mob zoo li cas. Tsis yog txhua tus menyuam yuav tau txais tib txoj kev kho mob, vim txhua tus neeg qhov xwm txheej txawv. Txawm li cas los xij, muaj ib yam uas txhua tus zoo ib yam. Yog tias ib tug menyuam uas muaj tus mob ROHHAD qhia txog kev ua pa tsis zoo thaum pw tsaug zog, lawv yuav tsum siv lub tshuab hu ua 'CPAP' lossis 'BiPAP' los pab lawv ua pa. Raws li lub sijhawm dhau mus, lawv yuav tsum siv 'lub tshuab ua pa' los txhawb nqa txoj kev ua pa. Qhov no yog ib txoj kev cawm txoj sia.

Thaum kho cov menyuam yaus uas muaj tus kab mob ROHHAD, kev pab los ntawm cov kws kho mob menyuam yaus hauv ntau qhov chaw yog qhov xav tau. Piv txwv li:

• Cov kws kho mob ntsws
• Cov kws kho mob hlwb
• Cov kws kho mob endocrinologist (cov kws kho mob uas tshwj xeeb hauv cov qog endocrine (hormones))
• Cov Kws Kho Mob Pob Ntseg (Otolaryngologists)
• Cov kws kho mob plawv
• Cov kws tshwj xeeb txog kev pw tsaug zog
• Cov kws noj haus
• Cov kws kho mob qog nqaij hlav
• Cov kws kho mob hlwb
• Cov kws kho mob hlwb

Yog los ntawm kev sib koom siab ntawm cov neeg no peb thiaj siv zog los muab kev kho mob zoo tshaj plaws rau tus menyuam.

Yav tom ntej ntawm cov menyuam yaus uas muaj tus kab mob ROHHAD yuav zoo li cas? (Kev Saib Xyuas)

Qhov tseeb, tam sim no tsis muaj tshuaj kho tau tus mob ROHHAD syndrome. Lub hom phiaj tseem ceeb ntawm kev kho mob yog tswj cov tsos mob uas tshwj xeeb rau txhua tus menyuam thiab tswj tus menyuam lub neej kom zoo tshaj plaws.

ROHHAD Syndrome thiab Lub Neej Cia Siab

Vim tias tus mob ROHHAD yog ib yam mob uas tsis tshua muaj, nws nyuaj rau kwv yees qhov tseeb tias yuav muaj sia nyob ntev npaum li cas. Tseem tsis tau muaj cov ntaub ntawv txaus txog nws.

Txawm li cas los xij, qhov ua rau tuag los ntawm tus kab mob no yog qhov teeb meem hu ua cardiorespiratory arrest, uas yog kev ua haujlwm ntawm lub plawv thiab lub cev ua pa tsis ua haujlwm tam sim ntawd .

Qhov no puas tuaj yeem tiv thaiv tau? (Kev tiv thaiv)

Tam sim no tseem tsis tau muaj txoj hauv kev los tiv thaiv tus kab mob ROHHAD - tsawg kawg yog tseem tsis tau muaj.

Kab mob ROHHAD yog ib yam mob uas tsis tshua muaj thiab tshiab heev. Yog li ntawd, kev tshawb nrhiav txog tus mob no tseem nyob rau theem pib. Thaum koj xav txog koj tus menyuam txoj kev noj qab haus huv, txhua hnub uas dhau mus yam tsis muaj lus teb tuaj yeem zoo li ntev heev. Peb nkag siab qhov ntawd. Yog li ntawd, nco ntsoov nrhiav kev pab los ntawm koj tus kws kho mob. Nws yuav muaj peev xwm qhia koj txog kev kho mob uas xav tau los tswj koj tus menyuam cov tsos mob, nrog rau cov ntaub ntawv hais txog tus mob no.

Cov lus tseem ceeb tshaj plaws uas peb yuav tsum coj mus tsev los ntawm zaj dab neeg no (Cov Lus Qhia Txog Kev Coj Mus Tsev)

Zoo, yog li tam sim no koj nkag siab txog tus kab mob ROHHAD uas peb tau tham txog. Nov yog qee yam tseem ceeb uas yuav tsum nco ntsoov:

• ROHHAD syndrome yog ib qho mob tsis tshua muaj, tab sis mob hnyav heev.
• Cov tsos mob tseem ceeb yog qhov hnyav nce sai sai, ua pa nyuaj, thiab muaj teeb meem nrog cov tshuaj hormones thiab lub paj hlwb autonomic.
• Tseem tsis tau muaj ib qho laj thawj tshwj xeeb lossis kev kho kom zoo mus tas li rau qhov no. Kev kho mob yog raws li cov tsos mob uas tshwm sim.
• Yog koj xav tias koj tus menyuam muaj cov tsos mob no, tsis txhob ntshai, tab sis mus ntsib kws kho mob tam sim ntawd kom tau txais lus qhia.
• Vim tias qhov no yog ib yam kab mob tsis tshua muaj, nws yuav siv sijhawm me ntsis kom tau txais kev kuaj mob tseeb. Tab sis tsis txhob tso tseg.
• Nws yog ib qho tseem ceeb heev uas yuav tsum ua raws li cov lus qhia ntawm cov kws kho mob thiab muab kev txhawb nqa rau tus menyuam.

Nco ntsoov tias, koj tsis yog tib leeg xwb. Nws yog ib qho tseem ceeb uas yuav tsum nrhiav kev pab los ntawm cov kws kho mob, tsev neeg, thiab, yog tias tsim nyog, cov kev pab tswv yim thaum koj ntsib teeb meem zoo li no.

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