Kodi mwana wanu ali ndi mavuto awa? Tiyeni tikambirane za Barth Syndrome!

N'zovuta kufotokoza m'mawu momwe timamvera ngati makolo ana athu akadwala, sichoncho? Makamaka ngati ndi vuto losowa komanso lovuta, mantha omwe ali m'mitima mwathu amawonjezeka kwambiri. Lero tikambirana za vuto losowa chonchi, koma ndikofunikira kwambiri kuti aliyense adziwe. Izi zimatchedwa Barth Syndrome.

Kodi Barth Syndrome ndi chiyani? Tiyeni timvetse mosavuta!

Mwachidule, matenda a Barth ndi matenda osowa kwambiri m'majini . Amapezeka kwambiri mwa anyamata . Matendawa amatha kukhudza ziwalo zingapo zofunika m'thupi la mwana. Akuluakulu ndi awa:

• Mafupa
• Mtima
• Chitetezo chamthupi
• Minofu

Taganizirani izi, thupi lathu lili ngati makina ovuta okhala ndi ziwalo zambiri zogwirira ntchito limodzi. Choncho pamene madera angapo ofunikira akhudzidwa, kukula kwabwinobwino kwa mwana ndi thanzi lake zimatha kusokonekera m'njira zosiyanasiyana.

Kodi atsikana sadwala matenda a Barth?

Ili ndi vuto lomwe anthu ambiri ali nalo. Ndipotu, mwayi woti mtsikana adwale matenda a Barth ndi wochepa kwambiri . Nthawi zambiri, atsikana omwe ali ndi kusintha kwa majini komwe kumayambitsa matendawa sasonyeza zizindikiro. Amatchedwa "onyamula." Izi zikutanthauza kuti alibe matendawa, koma amatha kupatsira ana awo jiniyo. Mwa kuyankhula kwina, mnyamata amakhala ndi mwayi wolandira matendawa.

Kodi vutoli ndi lofala bwanji?

Matenda a Barth ndi matenda osowa kwambiri . Malinga ndi ziwerengero, matendawa amapezeka mwa mwana m'modzi mwa ana 300,000 obadwa. Chifukwa chake simungamve zambiri za matendawa. Koma ngakhale kuti ndi osowa, ndikofunikira kwambiri kudziwa za matendawa.

Kodi n’chiyani chimayambitsa matenda a Barth?

Chifukwa chachikulu cha izi ndi kusintha kwa majini otchedwa Tafazzin (TAZ) . Jini iyi yotchedwa TAZ ili pa chromosome ya X. Monga mukudziwa, chromosome ya X ndi chinthu chomwe chimakhudza kwambiri kukula kwa thupi.

Chimodzi mwa ntchito zazikulu za jini ya TAZ ndikuwongolera kupanga mapuloteni omwe amafunikira mitochondria , zomera zazing'ono zamagetsi mkati mwa maselo athu zomwe zimapanga mphamvu. Mitochondria imeneyi imakhudzidwanso ndi kukula kwa mafupa.

Choncho, pakakhala kusintha kwa majini a TAZ, mapuloteni omwe amapanga sagwira ntchito bwino. Izi zikutanthauza kuti mitochondria ilibe mphamvu zokwanira, kapena "mafuta," kuti igwire ntchito. Zotsatira zake, minofu yomwe imafunikira mphamvu zambiri - monga mtima, minofu, ndi chitetezo chamthupi - sizingagwire ntchito bwino. Ichi ndiye chifukwa chachikulu cha matenda a Barth.

Kodi zizindikiro za matenda a Barth ndi ziti?

Zizindikiro za matenda a Barth zimatha kusiyana malinga ndi munthu. Komanso, kuopsa kwa zizindikirozi kumatha kusiyana. Zizindikiro zina zodziwika bwino ndi izi:

• Kuchuluka kosazolowereka kwa 3-methylglutaconic aciduria, organic acid, mu mkodzo.
• Matenda a mtima otchedwa dilated cardiomyopathy ndi matenda omwe zipinda zapansi za mtima zimakula, zomwe zikutanthauza kuti minofu ya mtima imafooka ndikutambasuka. Madokotala amatcha izi kuti dilated cardiomyopathy .
• Matenda obwera chifukwa cha mabakiteriya . Chifukwa cha izi ndi kufooka kwa chitetezo chamthupi.
• Kukula mochedwa : Kungakhale kochepa komanso kocheperako poyerekeza ndi ana ena a msinkhu womwewo.
• Kufooka kwa minofu ya mtima. Izi zimatchedwa cardiomyopathy .
• Kuchepa kwa chiwerengero cha ma neutrophils, mtundu wa maselo oyera a magazi, m'magazi. Matendawa amatchedwa neutropenia . Izi zimakupangitsani kukhala pachiwopsezo chachikulu cha matenda.
• Masaya odziwika bwino.
• Kusowa kwa minofu, kumva kufooka. Izi zimatchedwa hypotonia .
• Kufooka kwa minofu ya mafupa komwe kumatithandiza kusuntha matupi athu. Izi zimatchedwa skeletal myopathy .

Kodi zizindikirozi zingawonekere mofulumira bwanji?

Nthawi zambiri, zizindikirozi zimaonekera pobadwa . Komabe, mwa ana ena, zizindikirozi zimatha kuonekera miyezi ingapo atabadwa. Chifukwa chake, monga makolo, nthawi zonse tiyenera kudera nkhawa za kukula ndi thanzi la mwana wathu.

Kodi mavuto omwe angakhalepo chifukwa cha matenda a Barth ndi ati?

Ana omwe ali ndi vutoli ali pachiwopsezo cha mavuto osiyanasiyana, kuphatikizapo:

• Mavuto a kudya ndi kusowa zakudya m'thupi .
• Kutsegula m'mimba pafupipafupi.
• Mutu ndi kupweteka kwa thupi.
• Kutsika kwa shuga m'magazi, ndiko kuti , hypoglycemia .
• Kuchepa kwa mafupa ndi kufooka kwa mafupa, ndiko kuti, osteoporosis .
• Kutopa kwambiri, kumva kutopa ( kutopa ).
• Mavuto osavuta kuphunzira , makamaka m'maphunziro monga masamu.
• Kupezeka pafupipafupi kwa zilonda pakamwa (zilonda za khansa).

Mavuto amenewa sachitika kwa aliyense mofanana, koma kuwadziwa kungakuthandizeni kuyamba chithandizo msanga.

Kodi matenda a Barth amawapeza bwanji? (Kuzindikira)

Ngati zizindikiro zoyambirira za matenda a Barth zadziwika msanga, chithandizo chingayambe mwamsanga kwa mwanayo. Izi zingathandize kuchepetsa kupitirira kwa zizindikiro ndikupewa mavuto.

Pangafunike mayeso angapo kuti mupeze matenda olondola. Mwachitsanzo:

• Kuyezetsa komwe kumaphatikizapo kutenga chidutswa chaching'ono cha minofu ya mtima kapena minofu ina. Izi zimatchedwa biopsy.Chimodzi chimatchedwa ichi. Izi zimayang'ana zolakwika mu mitochondria ndi zina zolakwika.
• Kuyesa kwa Echocardiogram kuti muwone momwe mtima ukugwira ntchito.
• Kuyesa majini kuti kutsimikizire kusintha kwa majini komwe kumayambitsa matenda a Barth.
• Mayeso a mkodzo omwe amazindikira kuchuluka kwa ma organic acid mu mkodzo ndi kuchepa kwa maselo a chitetezo chamthupi (makamaka ma neutrophils).

Kodi ndingadziwe bwanji ngati mwana wanga akufunika kuyezetsa matenda a Barth?

Ngati mwana wanu ali ndi zizindikiro za kuchedwa kukula ndi zizindikiro zokhudzana ndi kufooka kwa minofu ya mtima (cardiomyopathy) , ndipo madokotala sakupeza chifukwa chomveka bwino, angakulangizeni kuti muyesedwe matenda a Barth. Zizindikiro za matenda a mtima zingaphatikizepo chizungulire, kugunda kwa mtima kosakhazikika ( arrhythmia ), ndi kumva phokoso la mtima losazolowereka ( kung'ung'udza kwa mtima ).

Kodi mankhwala a Barth syndrome ndi ati?

Ili ndiye vuto lalikulu lomwe anthu ambiri ali nalo. Kunena zoona, palibe mankhwala a Barth syndrome pakadali pano . Koma musadandaule. Cholinga chachikulu cha chithandizo ndikupewa ndikuchiza mavuto . Izi zimathandiza kuti moyo wa mwana ukhale wabwino momwe angathere. Mwanayo angafunike chithandizo monga:

• Maantibayotiki oletsa matenda.
• Mankhwala omwe amalimbikitsa kupanga maselo oyera a magazi.
• Mankhwala oletsa mavuto a mtima. Zitsanzo zake ndi monga ACE inhibitors, diuretics, ndi beta-blockers .
• Kuchiza thupi ndi chithandizo cha ntchito kuti athe kuthana ndi mavuto a kukula kwa thupi.
• Ngati mtima walephera kwambiri, kuyika mtima wina kungakhale kofunikira.

Chofunika kwambiri ndikupereka chithandizo chonsechi motsatira upangiri wa dokotala komanso m'njira yoyenera mwana aliyense.

Kodi ndi chiyani china chofunikira kudziwa chokhudza chithandizo cha Barth syndrome?

Ndikofunikira kumupima nthawi zonse kuti muwone momwe mwana wanu akuyankhira chithandizo. Zosowa za chisamaliro cha mwana wanu zingasinthe pakapita nthawi. Kupima nthawi zonse kumeneku kumapangitsa kuti zikhale zosavuta kusintha chithandizo mavuto asanachitike.

Mayeso amenewa akuphatikizaponso mayeso a magazi (mayeso a labu) kuti aone momwe chitetezo cha mthupi chimagwirira ntchito. Ngati mulingo wa neutrophil uli wochepa, maantibayotiki angaperekedwe kuti apewe matenda.

Kodi matenda a Barth angapewedwe?

Matenda a Barth ndi matenda obadwa nawo . Izi zikutanthauza kuti amabadwa nawo. Chifukwa chake, mwana amene ali ndi matenda a Barth adzakhala nawo moyo wake wonse.

Komabe, ngati mukuganiza zoyambitsa banja, kapena ngati mukuyembekezera mwana wina, ndipo wina m'banja mwanu ali ndi Barth syndrome (mbiri ya banja), kuyezetsa majini kungakhale kothandiza kwambiri. Kuyezetsa kumeneku kungakuthandizeni kudziwa ngati inu ndi mnzanu muli ndi kachilombo ka TAZ. Ngati ndinu wodwala, mutha kukumana ndi mlangizi wa majini kuti mukambirane za mwayi wokhala ndi mwana ndi Barth syndrome.

Kodi anthu omwe ali ndi matenda a Barth amakhala ndi moyo wautali bwanji?

Kale, nthawi yoyembekezera moyo wa ana omwe ali ndi vutoli inali yochepa kwambiri. Nthawi zambiri ankamwalira ali aang'ono chifukwa cha matenda a mtima. Komabe, odwala akapezeka ndi matendawa msanga komanso kulandira chithandizo choyenera, tsopano akukhala ndi moyo wautali . Ndi kupita patsogolo kwa sayansi, anthu ambiri tsopano amakhala ndi moyo mpaka kumapeto kwa zaka 40, ndipo nthawi zina nthawi yayitali. Palinso chiyembekezo chakuti mankhwala atsopano adzapezeka mtsogolo.

Kodi zimakhala bwanji kukhala ndi vuto la Barth?

Matenda a Barth angakhudze kukula kwa mwana. Ana ambiri amabadwa aang'ono ndipo akhoza kukhala afupiafupi akakula.

Kufooka kwa minofu ndi mavuto ena angayambitse kuchedwa kukula kwa thupi. Mwachitsanzo, akhoza kukhala ndi vuto lokwawa, kuyenda, komanso kukhala ndi thanzi labwino. Angamvenso kutopa mosavuta, makamaka akachita masewera olimbitsa thupi.

Komabe, matenda a Barth nthawi zambiri sakhudza nzeru za mwana . Komabe, pangakhale mavuto ang'onoang'ono pothetsa mavuto a masamu kapena kumvetsetsa nkhani zina. Chifukwa chake, ana otere amafunika chisamaliro chapadera ndi chithandizo.

Kodi ndingathandize bwanji mwana wanga kuthana ndi mavuto a mtima omwe amayamba chifukwa cha matenda a Barth?

Kutsatira moyo wathanzi kungachepetse nkhawa pamtima wa mwana pang'ono.

• Perekani zakudya zabwino .
• Chepetsani kumwa madzi monga momwe dokotala wanu wanenera.
• Limbikitsani kuchita masewera olimbitsa thupi pang'ono . Komabe, ndikofunikiranso kuwapatsa nthawi yokwanira yopuma akamaliza kuchita masewerawa. Ganizirani zinthu monga kuyenda pang'ono kapena masewera oyenda pang'onopang'ono.

Pomaliza, uthenga wopita nawo kunyumba

Matenda a Barth ndi matenda a majini omwe amakhudza mtima, chitetezo chamthupi, minofu, ndi zina zambiri. Amakhudza makamaka anyamata. Zizindikiro zimatha kuwonekera pobadwa kapena nthawi yochepa atangobadwa. Ngakhale kuti mavuto a mtima amatha kufupikitsa moyo wa ana omwe ali ndi Matenda a Barth, izi sizili choncho.

Ngakhale kuti palibe mankhwala enieni a izi, kuzizindikira msanga ndi kulandira chithandizo choyenera kungachepetse chiopsezo cha mavuto ndikuwonjezera moyo wabwino.

Choncho, ngati mukukayikira kuti mwana wanu ali ndi zizindikiro izi, musachite mantha, ndipo funsani upangiri kwa dokotala wodziwa bwino ntchito yake mwamsanga. Chifukwa sekondi iliyonse ndi yofunika.

Matenda a Barth , matenda a majini, matenda a ubwana, matenda a mtima, chitetezo chamthupi, kufooka kwa minofu, jini la TAZ