Koj tus tub puas muaj cov teeb meem no? Cia peb tham txog Barth Syndrome!

Nws nyuaj rau piav qhia txog kev xav hnyav uas peb xav ua niam txiv thaum peb cov menyuam yaus mob, puas yog? Tshwj xeeb tshaj yog tias nws yog ib qho mob tsis tshua muaj thiab nyuaj, qhov kev ntshai hauv peb lub siab yuav nce ntxiv. Hnub no peb yuav tham txog ib qho mob tsis tshua muaj, tab sis nws tseem ceeb heev rau txhua tus neeg kom paub txog. Qhov no hu ua Barth Syndrome.

Barth Syndrome yog dab tsi? Cia peb nkag siab yooj yim!

Hais yooj yim xwb, Barth syndrome yog ib yam mob uas tsis tshua muaj los ntawm noob caj noob ces . Feem ntau pom muaj rau cov tub hluas . Cov mob no tuaj yeem cuam tshuam rau ntau qhov tseem ceeb ntawm lub cev ntawm tus menyuam. Cov mob tseem ceeb yog:

• Cov pob txha
• Lub plawv
• Lub cev tiv thaiv kab mob
• Cov leeg nqaij

Xav txog nws, peb lub cev zoo li lub tshuab ua haujlwm nyuaj uas muaj ntau qhov chaw ua haujlwm ua ke. Yog li thaum muaj ntau qhov tseem ceeb raug cuam tshuam, tus menyuam txoj kev loj hlob thiab kev noj qab haus huv ib txwm muaj tuaj yeem raug kev txom nyem ntau yam.

Cov ntxhais puas tsis tau mob Barth syndrome?

Qhov no yog ib qho teeb meem uas ntau tus neeg muaj. Qhov tseeb, qhov muaj feem yuav muaj tus kab mob Barth syndrome tsawg heev . Feem ntau, cov ntxhais uas muaj cov noob caj noob ces uas ua rau muaj tus kab mob no tsis qhia cov tsos mob. Lawv hu ua "cov neeg nqa kab mob." Qhov no txhais tau tias lawv tsis muaj tus kab mob, tab sis lawv tuaj yeem xa cov noob caj noob ces mus rau lawv cov menyuam. Hauv lwm lo lus, tus tub yuav muaj feem yuav tau tus kab mob no.

Tus mob no feem ntau tshwm sim li cas?

Barth syndrome yog ib yam mob tsis tshua muaj . Raws li cov ntaub ntawv suav, muaj li ib tug ntawm 300,000 tus menyuam yug los uas muaj tus mob no. Yog li ntawd, tej zaum koj yuav tsis hnov ​​​​​​ntau txog nws. Txawm hais tias nws tsis tshua muaj los xij, nws tseem ceeb heev uas yuav tsum paub txog nws.

Dab tsi ua rau muaj Barth syndrome?

Qhov ua rau qhov no yog vim muaj kev hloov pauv hauv cov noob hu ua Tafazzin (TAZ) . Cov noob no hu ua TAZ nyob rau ntawm X chromosome. Raws li koj paub, X chromosome yog ib yam dab tsi uas muaj feem cuam tshuam ntau rau kev loj hlob ntawm lub cev.

Ib qho ntawm cov haujlwm tseem ceeb ntawm TAZ gene yog coj kev tsim cov protein uas mitochondria xav tau, cov chaw tsim hluav taws xob me me hauv peb cov hlwb uas tsim lub zog. Cov mitochondria no kuj koom nrog kev loj hlob ntawm pob txha.

Yog li ntawd, thaum muaj kev hloov pauv hauv TAZ gene, cov protein uas nws tsim tawm tsis ua haujlwm zoo. Qhov no txhais tau tias mitochondria tsis muaj zog txaus, lossis "roj," los ua haujlwm. Yog li ntawd, cov ntaub so ntswg uas xav tau zog ntau dua - xws li lub plawv, cov leeg, thiab lub cev tiv thaiv kab mob - tsis tuaj yeem ua haujlwm zoo. Qhov no yog qhov piav qhia txog kab mob Barth syndrome.

Cov tsos mob ntawm Barth syndrome yog dab tsi?

Cov tsos mob ntawm Barth syndrome yuav txawv ntawm ib tus neeg mus rau ib tus neeg. Tsis tas li ntawd, qhov hnyav ntawm cov tsos mob no kuj txawv. Qee cov tsos mob uas pom ntau yog:

• Cov qib siab ntawm 3-methylglutaconic aciduria, uas yog cov organic acid, hauv cov zis.
• Kab mob plawv dhia (dilated cardiomyopathy) yog ib yam mob uas cov chav qis ntawm lub plawv loj zuj zus, uas txhais tau tias cov leeg plawv tsis muaj zog thiab ncab. Cov kws kho mob hu qhov no ua kab mob plawv dhia .
• Kab mob kis ntau zaus. Qhov laj thawj rau qhov no yog lub cev tiv thaiv kab mob tsis muaj zog.
• Kev loj hlob qeeb : Tej zaum yuav luv dua thiab hnyav dua li lwm cov menyuam yaus uas muaj hnub nyoog zoo sib xws.
• Mob plawv tsis muaj zog. Qhov no hu ua cardiomyopathy .
• Kev txo qis ntawm cov neutrophils, ib hom qe ntshav dawb, hauv cov ntshav. Qhov mob no hu ua neutropenia . Qhov no ua rau koj yooj yim kis kab mob.
• Cov puab tsaig pom tseeb.
• Cov leeg nqaij tsis muaj zog, muaj kev xav tias tsis muaj zog. Qhov no hu ua hypotonia .
• Qhov tsis muaj zog ntawm cov leeg nqaij pob txha uas pab peb txav peb lub cev. Qhov no hu ua skeletal myopathy .

Cov tsos mob no yuav tshwm sim sai npaum li cas?

Feem ntau, cov tsos mob no pom tseeb thaum yug los . Txawm li cas los xij, rau qee tus menyuam, cov tsos mob no yuav tshwm sim ob peb lub hlis tom qab yug los. Yog li ntawd, ua niam txiv, peb yuav tsum txhawj xeeb txog peb tus menyuam txoj kev loj hlob thiab kev noj qab haus huv.

Cov teeb meem uas yuav muaj tau ntawm Barth syndrome yog dab tsi?

Cov menyuam yaus uas muaj tus mob no muaj feem yuav muaj ntau yam teeb meem, suav nrog:

• Teeb meem noj mov thiab tsis muaj zaub mov zoo .
• Raws plab ntau zaus.
• Mob taub hau thiab mob lub cev.
• Cov ntshav qab zib qis, uas yog , hypoglycemia .
• Kev nyias thiab qaug zog ntawm cov pob txha, uas yog osteoporosis .
• Nkees heev, xav tias nkees ( qaug zog ).
• Muaj teeb meem kev kawm me ntsis, tshwj xeeb yog hauv cov ntsiab lus xws li lej.
• Muaj mob qog ncauj ntau zaus (canker sores).

Cov teeb meem no tsis tshwm sim rau txhua tus tib yam, tab sis kev paub txog lawv tuaj yeem pab koj pib kho sai dua.

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

Yog tias pom cov tsos mob ntawm Barth syndrome thaum ntxov, kev kho mob rau tus menyuam tuaj yeem pib sai li sai tau. Qhov no tuaj yeem pab tswj kev nce qib ntawm cov tsos mob thiab tiv thaiv cov teeb meem.

Yuav tsum tau kuaj ntau zaus kom paub tseeb tias yog mob dab tsi. Piv txwv li:

• Ib qho kev kuaj uas yuav tsum tau muab ib daim me me ntawm cov leeg nqaij plawv lossis lwm cov leeg nqaij. Qhov no hu ua biopsy.Muaj ib qho hu ua qhov no. Qhov no kuaj xyuas seb puas muaj qhov tsis zoo hauv mitochondria thiab lwm yam kev txawv txav.
• Kev kuaj echocardiogram los xyuas seb lub plawv ua haujlwm li cas.
• Kev kuaj noob caj noob ces kom paub tseeb tias muaj kev hloov pauv noob caj noob ces uas ua rau muaj Barth syndrome.
• Kev kuaj zis uas pom cov organic acids ntau hauv cov zis thiab cov qe ntshav dawb hauv lub cev tiv thaiv kab mob tsawg (tshwj xeeb tshaj yog cov neutrophils).

Kuv yuav paub li cas yog tias kuv tus menyuam xav tau kev kuaj mob Barth syndrome?

Yog tias koj tus menyuam muaj cov cim qhia tias nws txoj kev loj hlob qeeb thiab muaj cov tsos mob ntsig txog cov leeg nqaij plawv tsis muaj zog (cardiomyopathy) , thiab cov kws kho mob tsis tuaj yeem nrhiav tau qhov ua rau pom tseeb, lawv yuav pom zoo kom kuaj mob Barth syndrome. Cov tsos mob ntawm cardiomyopathy muaj xws li kiv taub hau, lub plawv dhia tsis xwm yeem ( arrhythmia ), thiab hnov ​​​​​​lub suab plawv tsis zoo ( heart murmur ).

Cov kev kho mob rau Barth syndrome yog dab tsi?

Qhov no yog qhov teeb meem loj tshaj plaws uas ntau tus neeg muaj. Yog hais qhov tseeb, tseem tsis tau muaj tshuaj kho tau tus kab mob Barth syndrome no . Tiam sis tsis txhob txhawj. Lub hom phiaj tseem ceeb ntawm kev kho mob yog los tiv thaiv thiab kho cov teeb meem . Qhov no pab kom tus menyuam lub neej zoo li qub tau. Tus menyuam yuav xav tau kev kho mob xws li:

• Cov tshuaj tua kab mob rau kev kis kab mob.
• Cov tshuaj uas ua rau cov qe ntshav dawb tsim tawm.
• Cov tshuaj siv los tswj cov teeb meem plawv. Piv txwv li suav nrog ACE inhibitors, diuretics, thiab beta-blockers .
• Kev kho lub cev thiab kev kho mob ua haujlwm kom daws tau cov teeb meem ntawm kev loj hlob ntawm lub cev.
• Thaum muaj mob plawv tsis ua haujlwm hnyav, tej zaum yuav tsim nyog hloov plawv .

Qhov tseem ceeb tshaj plaws yog muab tag nrho cov kev kho mob no raws li qhov tsim nyog rau txhua tus menyuam, raws li cov lus qhia ntawm kws kho mob.

Muaj dab tsi tseem ceeb uas yuav tsum paub txog kev kho mob Barth syndrome?

Nws yog ib qho tseem ceeb uas yuav tsum tau mus kuaj mob tsis tu ncua kom paub seb koj tus menyuam teb li cas rau kev kho mob. Tej zaum koj tus menyuam yuav xav tau kev saib xyuas ntau dua li qub. Cov kev kuaj mob tsis tu ncua no ua rau nws yooj yim dua los hloov kev kho mob ua ntej muaj teeb meem tshwm sim.

Cov kev kuaj no kuj suav nrog kev kuaj ntshav (kev kuaj hauv chaw kuaj mob) los xyuas seb lub cev tiv thaiv kab mob ua haujlwm li cas. Yog tias cov neutrophil qis, tej zaum yuav muab tshuaj tua kab mob los tiv thaiv kev kis kab mob.

Puas tiv thaiv tau tus mob Barth syndrome?

Kab mob Barth yog ib yam mob uas muaj los ntawm noob caj noob ces . Qhov no txhais tau tias nws yog los ntawm noob caj noob ces. Yog li ntawd, ib tug me nyuam uas muaj kab mob Barth yuav muaj nws mus tas lawv lub neej.

Txawm li cas los xij, yog tias koj tab tom xav txog kev pib tsev neeg, lossis yog tias koj tab tom yuav muaj menyuam ntxiv, thiab ib tug neeg hauv koj tsev neeg muaj Barth syndrome (keeb kwm tsev neeg), kev kuaj noob caj ces tuaj yeem pab tau heev. Qhov kev kuaj no tuaj yeem qhia koj tias koj thiab koj tus khub puas yog cov neeg nqa cov noob caj ces TAZ. Yog tias koj yog tus nqa cov noob caj ces, koj tuaj yeem ntsib nrog tus kws pab tswv yim txog noob caj ces los tham txog qhov muaj feem yuav muaj menyuam nrog Barth syndrome.

Cov neeg uas muaj tus mob Barth syndrome no yuav muaj sia nyob ntev npaum li cas?

Yav dhau los, lub neej ntev ntawm cov menyuam yaus uas muaj tus mob no luv heev. Lawv feem ntau tuag thaum lawv tseem yog menyuam yaus vim muaj teeb meem plawv. Txawm li cas los xij, nrog kev kuaj mob thaum ntxov thiab kev kho mob kom zoo, cov neeg mob tam sim no muaj sia nyob ntev dua . Nrog kev nce qib hauv kev tshawb fawb, ntau tus neeg tam sim no nyob txog thaum lawv muaj hnub nyoog 40 xyoo, thiab qee zaum ntev dua. Kuj tseem muaj kev cia siab tias kev kho mob tshiab yuav raug tshawb pom yav tom ntej.

Ua neej nyob nrog Barth syndrome zoo li cas?

Kab mob Barth tuaj yeem cuam tshuam rau kev loj hlob ntawm ib tug menyuam. Muaj ntau tus menyuam yug los me me thiab tej zaum yuav luv luv thaum lawv loj hlob tuaj.

Cov leeg nqaij tsis muaj zog thiab lwm yam teeb meem tuaj yeem ua rau lub cev loj hlob qeeb. Piv txwv li, lawv yuav muaj teeb meem nkag, taug kev, thiab tswj kev sib npaug. Lawv kuj tseem yuav nkees yooj yim, tshwj xeeb tshaj yog tom qab ua si.

Txawm li cas los xij, Barth syndrome feem ntau tsis cuam tshuam rau tus menyuam txoj kev txawj ntse . Txawm li cas los xij, tej zaum yuav muaj teeb meem me me hauv kev daws teeb meem lej lossis nkag siab qee yam ntsiab lus. Yog li ntawd, cov menyuam zoo li no xav tau kev saib xyuas thiab kev txhawb nqa tshwj xeeb.

Kuv yuav pab kuv tus menyuam tswj cov teeb meem plawv uas tshwm sim los ntawm Barth syndrome li cas?

Kev ua raws li kev noj qab haus huv tuaj yeem txo qhov kev ntxhov siab rau lub plawv ntawm tus menyuam mus rau qee yam.

• Muab kev noj zaub mov zoo .
• Txwv cov dej haus raws li koj tus kws kho mob hais.
• Txhawb kom lawv ua si me me xwb . Txawm li cas los xij, nws tseem ceeb heev uas yuav tsum muab sijhawm rau lawv so kom txaus tom qab ua tej yam no. Xav txog tej yam xws li kev taug kev luv luv lossis kev ua si qeeb qeeb.

Thaum kawg, cov lus coj mus tsev

Kab Mob Barth yog ib qho mob caj ces uas cuam tshuam rau lub plawv, lub cev tiv thaiv kab mob, cov leeg nqaij, thiab ntau ntxiv. Nws feem ntau cuam tshuam rau cov tub hluas. Cov tsos mob yuav tshwm sim thaum yug los lossis tom qab ntawd. Txawm hais tias cov teeb meem plawv tuaj yeem ua rau lub neej luv ntawm cov menyuam yaus uas muaj Kab Mob Barth, qhov no tsis yog qhov tseeb lawm.

Txawm hais tias tsis muaj kev kho mob tshwj xeeb rau qhov no, kev kuaj mob thaum ntxov thiab kev kho mob kom zoo tuaj yeem txo qhov kev pheej hmoo ntawm cov teeb meem thiab ua kom lub neej zoo tshaj plaws.

Yog li ntawd, yog tias koj xav tias koj tus menyuam muaj cov tsos mob no, tsis txhob ntshai, thiab nrhiav kev pab los ntawm tus kws kho mob uas tsim nyog sai li sai tau. Vim tias txhua ob feeb muaj nqis.

Barth syndrome, cov kab mob caj ces, cov kab mob thaum yau, cov kab mob plawv, lub cev tiv thaiv kab mob, cov leeg tsis muaj zog, TAZ gene