Cia peb tham txog Familial Dysautonomia: Ib qho kev puas siab puas ntsws uas tau txais los ntawm noob caj noob ces!

Koj puas tau hnov ​​​​tias muaj tej yam hauv peb lub cev tshwm sim yam tsis tau xav txog, yam tsis tau peb paub txog? Xav txog nws, ua pa, zom zaub mov, tswj peb lub cev kub, ntuav, quaj ... Tag nrho cov no tshwm sim yam tsis tau xav txog hauv peb lub cev, uas yog, yam tsis tau peb xav txog lawv. Tab sis, yuav ua li cas yog tias muaj qhov tsis muaj zog lossis teeb meem hauv peb lub paj hlwb , uas tswj cov yam tsis tau xav txog no? Hnub no peb yuav tham txog ib qho kab mob uas tsis tshua muaj, tab sis loj heev, uas yug los. Qhov no hu ua Familial Dysautonomia (FD) .

Tsev neeg Dysautonomia yog dab tsi?

Hais yooj yim xwb, familial dysautonomia (FD) yog ib yam mob uas muaj txij thaum yug los uas cuam tshuam rau koj lub paj hlwb. Nws feem ntau cuam tshuam rau cov feem ntawm koj lub cev uas tswj cov txheej txheem tsis siv neeg . Ntawd yog:

• Ua pa
• Kev zom zaub mov
• Kua muag tsim
• Tswj cov ntshav siab thiab qhov kub ntawm lub cev
• Kev tsim cov qaub ncaug

Ntxiv rau qhov no, nws kuj cuam tshuam rau koj lub paj hlwb rhiab heev . Qhov ntawd txhais tau tias:

• Saj
• Kev rhiab heev rau qhov mob thiab kub

Tus mob no yog tshwm sim los ntawm kev hloov pauv ntawm cov noob caj noob ces uas tau txais los ntawm niam txiv. Tus mob no, hu ua Familial Dysautonomia, kuj hu ua:

• Riley-Day syndrome
• HSAN hom III mob neuropathy uas los ntawm noob caj noob ces thiab autonomic (Hom III mob neuropathy uas los ntawm noob caj noob ces thiab autonomic - HSAN hom III)

Tu siab kawg li, qhov teeb meem dysautonomia hauv tsev neeg no tuaj yeem ua rau cov menyuam yaus qeeb qeeb thiab ua rau lawv lub neej luv dua.

Leej twg yuav muaj tus mob no ntau dua?

Kab mob Familial Dysautonomia yuav tsum tau ib tug me nyuam tau txais ib qho noob caj noob ces tsis zoo los ntawm ob niam txiv . Qhov no yog ib qho mob tsis tshua muaj. Nws yog ib qho mob uas tshwm sim ntau heev ntawm cov neeg Ashkenazi Jewish . Muaj kev tshaj tawm tias muaj li ib tug ntawm 10,000 tus neeg Ashkenazi Jewish hauv Tebchaws Meskas thiab li ib tug ntawm 3,700 tus neeg hauv tebchaws Iziv yug los nrog tus mob no. Qhov no txhais tau tias nws tsis yog ib yam kab mob uas cuam tshuam rau txhua tus.

Vim li cas ho ua li no?

Qhov no yog vim muaj kev hloov pauv hauv cov noob caj noob ces . Koj ob leeg niam txiv yuav tsum muaj kev hloov pauv hauv ib qho noob caj noob ces hu ua ELP1 . Cov noob caj noob ces ELP1 no ua cov protein uas pab koj lub paj hlwb loj hlob. Yog li, yog tias muaj kev hloov pauv, lossis qhov tsis txaus, hauv cov noob caj noob ces no, teeb meem tshwm sim hauv kev ua haujlwm ntawm qee qhov ntawm lub paj hlwb. Hais yooj yim, yog tias ib daim rooj tog tseem ceeb ploj thaum lub sijhawm tsim lub tsev, tag nrho lub tsev yuav tawg ua tej daim.

Cov tsos mob ntawm Familial Dysautonomia (FD) yog dab tsi?

Cov tsos mob ntawm tus mob no pib thaum yau . Cov tsos mob thaum ntxov muaj xws li:

• Nyuaj rau kev nqus mis: Nws nyuaj rau tus menyuam yaus me me kom nqus mis kom raug.
• Nyuaj nqos (dysphagia): Nyuaj nqos zaub mov thiab dej haus, zoo li nws txhaws.
• Tsis muaj peev xwm tswj tau qhov kub ntawm lub cev: Qhov kub ntawm lub cev yuav nce lossis txo qis sai sai.
• Tsis quaj thaum quaj: Qhov no yog ib qho tsos mob tshwj xeeb heev. Ib tug me nyuam me me tsis quaj thaum lawv quaj.
• Kev loj hlob tsis zoo: Tus menyuam qhov hnyav thiab qhov siab tsis nce raws li lawv lub hnub nyoog.
• Cov leeg tsis muaj zog (hypotonia): Lub cev xav tias qaug zog thiab tsis muaj zog.

Thaum tus me nyuam loj hlob tuaj, tej zaum lawv yuav ua pa tsis taus, zoo li lawv tab tom txhaws. Tiam sis feem ntau qhov kev ua pa tsis taus no yuav ploj mus thaum muaj hnub nyoog 6 xyoos.

Thaum tus kab mob zuj zus tuaj, lwm cov tsos mob yuav tshwm sim:

• Lub plawv dhia tsis zoo (arrhythmia): Lub plawv dhia tsis sib xws.
• Kev saj tsis zoo: Tej zaum koj yuav tsis saj tau zaub mov zoo.
• Kab mob txha nqaj qaum nkhaus tsis zoo li qub (scoliosis): Tus txha nqaj qaum zoo li nkhaus rau ib sab.
• Teeb meem kev sib npaug thiab kev taug kev tsis zoo: Nyuaj rau kev taug kev, muaj feem yuav ntog.
• Tso zis rau hauv txaj: Tso zis rau hauv txaj thaum hmo ntuj thaum pw tsaug zog.
• Mob plab zom mov tsis tu ncua (GERD): Mob plab ntau zaus thiab mob plab nce mus rau hauv caj pas.
• Kev loj hlob qeeb: Tej yam xws li kev hais lus thiab kev taug kev raug ncua.
• Qaug dej ntau dhau.
• Teeb meem ntawm qhov muag: tej yam xws li qhov muag qhuav, strabismus.
• Tsis muaj peev xwm hnov ​​​​​​mob thiab qhov kub thiab txias hloov pauv: Kub, txias, txiav, thiab qhov txhab tsis hnov ​​​​​​zoo.
• Kev pom kev tsis meej thiab poob qhov muag.
• Kab mob ntsws: Kab mob feem ntau tshwm sim vim muaj cov hnoos qeev hauv lub ntsws.
• Kev ua rau cov pob txha tsis muaj zog (osteoporosis) thiab muaj kev pheej hmoo ntawm kev tawg pob txha.
• Tsis muaj zog tswj kev ua pa, tshwj xeeb tshaj yog thaum pw tsaug zog.
• Cov mob qaug dab peg xws li qaug dab peg.
• Ntuav.

Muaj ntau tus neeg uas muaj teeb meem tswj lawv cov ntshav siab . Qhov no tuaj yeem ua rau cov ntshav qis thaum sawv ntsug (orthostatic hypotension), uas tuaj yeem ua rau kiv taub hau thiab tsaus muag. Ntshav siab (hypertension) kuj tseem tuaj yeem ua rau muaj kab mob raum.

Kwv yees li ntawm 40% ntawm cov neeg uas muaj tus mob no yuav muaj lub sijhawm hu ua "autonomic crises" thaum cov tsos mob zuj zus tuaj. Thaum lub sijhawm no, cov hauv qab no yuav tshwm sim:

• Ua npaws.
• Lub plawv dhia tsis xwm yeem.
• Ntshav siab.
• Liab ntawm daim tawv nqaij.
• Tawm hws.
• Ntuav.

Xav seb nws yuav nyuaj npaum li cas rau ib tug me nyuam yaus uas muaj cov teeb meem zoo li no txhua lub sijhawm. Nws kuj nyuaj rau cov niam txiv los ris qhov no thiab. Tab sis muaj cov kev daws teeb meem rau txhua yam no raws li cov lus qhia ntawm kws kho mob.

Yuav kuaj mob li cas rau tus kab mob Familial Dysautonomia (FD)?

Koj tus kws kho mob yuav nug koj txog koj cov tsos mob ua ntej thiab tom qab ntawd ua qhov kev kuaj mob lub cev .

Qhov tseem ceeb tshaj plaws yog saib seb puas muaj kua muag tawm thaum koj quaj. Rau cov menyuam mos hnub nyoog qis dua 6 lub hlis, kev kuaj hu ua Schirmer test yog ua tiav:

• Qhov koj ua yog muab ib daim ntawv lim me me rau sab hauv ntawm tus menyuam lub qhov muag qis.
• Yog tias, tom qab tsib feeb, cov dej noo hauv nplooj tsawg dua 10 milliliters, nws raug xav tias tus menyuam yuav muaj teeb meem familial dysautonomia.

Tsis tas li ntawd xwb, tus kws kho mob yuav saib cov no:

• Txo cov kev xav ntawm cov leeg nqaij: Yog tias koj muaj FD, koj cov leeg yuav tsis teb thaum tus kws kho mob maj mam kov lawv.
• Kev tsis haum tshuaj rau kev txhaj tshuaj histamine: Thaum ib tus neeg uas muaj FD tau txais kev txhaj tshuaj no, daim tawv nqaij yuav tsis liab thiab o zoo li ib tus neeg ib txwm.
• Kev tsis haum tshuaj rau methacholine: Kwv yees li 20 feeb tom qab siv cov tshuaj no, lub qhov muag ntawm lub qhov muag yuav nqaim yog tias muaj FD.
• Tus nplaig du: Yog tias koj muaj FD, koj tus nplaig yuav zoo li du vim tias cov noob saj (fungiform papillae) nyob rau tom qab nruab nrab ntawm koj tus nplaig ploj lawm.

Yog tias koj pom cov tsos mob no, koj tus kws kho mob yuav qhia kom kuaj xyuas cov noob caj noob ces , uas yog kev kuaj ntshav thiab kuaj xyuas seb puas muaj kev hloov pauv noob caj noob ces uas ua rau muaj kev puas tsuaj rau tsev neeg.

Cov kev kho mob rau Familial Dysautonomia (FD) yog dab tsi?

Lub hom phiaj tseem ceeb ntawm kev kho mob rau FD yog kom txo cov tsos mob . Muaj ntau yam kev kho mob rau qhov no:

• Rau cov kab mob ntsws: Tshuaj tua kab mob lossis kev kho lub cev hauv siab.
• Rau kev mob orthostatic hypotension: thom khwm nias lossis lub tshuab ua pacemaker tas mus li.
• Rau cov teeb meem ua pa thaum pw tsaug zog: Cov khoom siv xws li CPAP lossis BiPAP® (Bilevel Positive Airway Pressure).
• Txhawm rau tiv thaiv lub cornea ntawm lub qhov muag: Cov tshuaj qhov muag.
• Rau qhov lub cev qhuav dej vim ntuav: Muab cov tshuaj saline (cov kua IV) rau hauv cov hlab ntsha.
• Rau GERD, kab mob raum, kev tsim cov qaub ncaug, qaug dab peg, lossis ntuav: ntau hom tshuaj sib txawv.
• Yuav ua kom cov haujlwm txhua hnub yooj yim dua: Kev kho mob ua haujlwm.
• Txhawm rau txhim kho qhov sib npaug: Kev kho lub cev.
• Rau cov teeb meem nraub qaum: Kev phais.
• Yuav kom muaj kev noj zaub mov ntau ntxiv: Muab kev pub mis rau hauv lub raj (kev noj zaub mov hauv plab).

Lub caij no, cov kws tshawb nrhiav tseem niaj hnub ua kev sim tshuaj tshiab . Vam tias cov kev kho mob no yuav kho tsis tau cov tsos mob xwb tab sis kuj kho tau tus kab mob nws tus kheej thiab.

Puas muaj peev xwm txo tau qhov kev pheej hmoo ntawm kev mob familial dysautonomia (FD)?

Peb yeej tsis muaj peev xwm txo qhov kev pheej hmoo ntawm kev mob FD, vim nws yog los ntawm noob caj noob ces. Txawm li cas los xij, nws yog ib qho tseem ceeb kom paub txog cov tsos mob thiab nrhiav kev kho mob thiab kev kho mob sai li sai tau .

Yog tias koj yog neeg Ashkenazi Yudai thiab npaj yuav muaj menyuam, nws yog ib lub tswv yim zoo kom nrhiav kev sab laj txog noob caj noob ces . Koj tus kws kho mob kuj tseem yuav pom zoo kom kuaj noob caj noob ces kom pom tias koj puas muaj noob caj noob ces ELP1 ua ntej lossis thaum cev xeeb tub.

Yuav ua li cas rau ib tus neeg uas muaj Familial Dysautonomia (FD)?

Tsis muaj kev kho rau kev puas hlwb hauv tsev neeg. Cov neeg uas muaj tus mob no muaj lub neej luv dua li cov pej xeem feem ntau. Kwv yees li ib nrab ntawm cov neeg no nyob txog lawv lub hnub nyoog 30 xyoo. Lwm tus yuav nyob txog lawv lub hnub nyoog 70 xyoo.

Hnov qhov no yuav ua rau koj ntshai thiab tu siab me ntsis. Tiam sis nco ntsoov tias, nrog kev kho mob zoo thiab kev saib xyuas zoo, koj tuaj yeem pab cov neeg no ua neej zoo thiab txaus siab li sai tau.

Cov tsos mob yuav hnyav zuj zus tuaj raws sijhawm. Piv txwv li, kwv yees li 49% ntawm cov neeg uas muaj FD yuav xav tau kev pab taug kev thaum muaj hnub nyoog 50 xyoo. Lawv kuj tseem yuav muaj kab mob ntsws ntau zaus, xws li mob ntsws .

Ib tug neeg uas muaj Familial Dysautonomia (FD) saib xyuas lawv tus kheej li cas?

Koj tuaj yeem pab txo cov teeb meem los ntawm kev ua raws li cov kauj ruam no:

• Tsis txhob cia huab cua kub los yog noo noo.
• Txwv cov xwm txheej ntxhov siab.
• Tsis txhob mus ncig ua si ntev.
• Sim tsis txhob tos kom txog thaum koj lub zais zis puv.

Tsis tas li ntawd xwb, koj yuav tsum kom koj tus kws kho mob kuaj xyuas cov no tsis tu ncua :

• Ntshav siab.
• Qhov muag.
• Kev ua haujlwm ntawm lub raum.
• Kev ua pa ua haujlwm.
• Pob txha nraub qaum.

Cov Lus Qhia Txog Kev Coj Mus Tsev

Tsev neeg dysautonomia (FD) yog ib qho mob tsis tshua muaj, uas cuam tshuam rau koj lub paj hlwb. Nws cuam tshuam rau cov haujlwm tsis kam xws li ua pa, zom zaub mov, tsim kua muag, ntshav siab thiab tswj qhov kub ntawm lub cev, thiab tsim cov qaub ncaug. Nws kuj tseem tuaj yeem cuam tshuam rau cov haujlwm hnov ​​​​​​xws li saj, mob, thiab kub.

Txawm hais tias tsis muaj kev kho kom zoo tag nrho rau qhov no los xij, kev kho mob xws li tshuaj, ntau yam kev kho mob, thiab kev phais mob tuaj yeem tswj cov tsos mob thiab ua rau lub neej yooj yim dua.Txawm hais tias cov neeg uas muaj teeb meem kev tswj tus kheej hauv tsev neeg yuav muaj lub neej luv dua, yog tias lawv kho thiab saib xyuas zoo, lawv tuaj yeem ua neej zoo li qub tau. Qhov tseem ceeb tshaj plaws yog nrhiav kev pab kho mob thaum ntxov yog tias koj muaj cov tsos mob thiab nyob hauv kev saib xyuas mob tas li.

Tsev neeg dysautonomia, lub paj hlwb, cov kab mob caj ces, Riley-Day syndrome, kev noj qab haus huv ntawm menyuam yaus, cov tsos mob, kev kho mob