Mwanakomana wenyu ane matambudziko aya here? Ngatikurukurei nezveBarth Syndrome!

Zvakaoma kutaura manzwiro anorwadza atinonzwa sevabereki kana vana vedu vadiki vachirwara, handiti? Kunyanya kana iri mamiriro asingawanzoitiki uye akaoma, kutya kuri mumoyo medu kunowedzera. Nhasi tichataura nezvechirwere chisingawanzoitiki, asi zvakakosha kuti munhu wese azive nezvacho. Ichi chinonzi Barth Syndrome.

Chii chinonzi Barth Syndrome? Ngatizvinzwisise zviri nyore!

Zvichitaurwa zviri nyore, chirwere cheBarth chirwere chisingawanzoitiki chemajini . Chinowanzoonekwa muvakomana . Chirwere ichi chinogona kukanganisa nhengo dzinoverengeka dzemuviri wemwana. Zvikuru ndeizvi:

• Mupfupa
• Mwoyo
• Sistimu yekudzivirira muviri
• Tsandanyama

Funga nezvazvo, muviri wedu wakaita semuchina wakaoma une zvikamu zvakawanda zvinoshanda pamwe chete. Saka kana nzvimbo dzinokosha dzikawanda dzikakanganiswa, kukura kwemwana kwakajairika uye hutano hwake zvinogona kutadza munzira dzakasiyana-siyana.

Vasikana havabatwi neBarth syndrome here?

Iri idambudziko rinosangana nevanhu vazhinji. Kutaura zvazviri, mukana wekuti musikana awane chirwere cheBarth wakaderera zvikuru . Kazhinji, vasikana vane gene mutation inokonzera chirwere havaratidzi zviratidzo. Vanonzi "vatakuri." Izvi zvinoreva kuti havana chirwere ichi, asi vanogona kupa gene kuvana vavo. Nemamwe mashoko, mukomana ane mukana wekugara nhaka chirwere ichi.

Dambudziko iri rakajairika zvakadii?

Chirwere cheBarth chirwere chisingawanzoitiki . Zvichienderana nehuwandu, chirwere ichi chinoonekwa mumwana mumwe chete pavana 300,000 vanoberekwa. Saka ungasanzwa zvakawanda nezvacho. Asi kunyangwe chisingawanzoitiki, zvakakosha kuti uzive nezvacho.

Chii chinokonzera chirwere cheBarth?

Chikonzero chikuru cheizvi ikushanduka kwejini kunonzi Tafazzin (TAZ) . Jini iri rinonzi TAZ riri pa chromosome X. Sezvamunoziva, chromosome X chinhu chine simba guru pakukura kwemuviri.

Rimwe remabasa makuru eTAZ gene nderekutungamira kugadzirwa kweprotein inodiwa ne mitochondria , zvirimwa zvidiki zvemagetsi zviri mukati memasero edu zvinogadzira simba. Mitochondria idzi dzinobatsirawo mukukura kwemapfupa.

Saka, kana paine shanduko mugene reTAZ, puroteni yainoburitsa haishande nemazvo. Izvi zvinoreva kuti mitochondria haina simba rakakwana, kana "mafuta," kuti ishande. Nekuda kweizvozvo, tishu dzinoda simba rakawanda - senge moyo, tsandanyama, uye immune system - hadzigone kushanda nemazvo. Iyi ndiyo tsananguro huru yeBarth syndrome.

Ndezvipi zviratidzo zveBarth syndrome?

Zviratidzo zveBarth syndrome zvinogona kusiyana kubva pamunhu kuenda kune mumwe. Uyewo, kuoma kwezviratidzo izvi kunogona kusiyana. Zvimwe zviratidzo zvakajairika ndeizvi:

• Kuwanda kwakanyanya kwe3-methylglutaconic aciduria, iyo inonzi organic acid, muweti.
• Kukura kwemoyo (dilated cardiomyopathy) chirwere chinoti makamuri epasi emwoyo anokura, zvichireva kuti tsandanyama dzemwoyo dzinopera simba uye dzinotambanudzwa. Vanachiremba vanodana izvi kuti dilated cardiomyopathy .
• Kutapukirwa nemabhakitiriya kunowanzoitika. Chikonzero cheizvi isimba remuviri rekudzivirira chirwere.
• Kunonoka kukura : Inogona kunge iri pfupi uye ine huremu hushoma pane hwevamwe vana vezera rimwe chete.
• Kushaya simba kwetsandanyama yemwoyo. Izvi zvinonzi cardiomyopathy .
• Kuderera kwehuwandu hwema neutrophils, rudzi rwemasero machena eropa, muropa. Dambudziko iri rinonzi neutropenia . Izvi zvinoita kuti uve nyore kubatwa nezvirwere.
• Matama akakurumbira.
• Kushaya tsandanyama, kunzwa kwekunge munhu apererwa. Izvi zvinonzi hypotonia .
• Kushaya simba kwetsandanyama dzemapfupa dzinotibatsira kufambisa miviri yedu. Izvi zvinonzi skeletal myopathy .

Zviratidzo izvi zvinogona kuoneka nekukurumidza sei?

Kazhinji, zviratidzo izvi zvinoonekwa pakuzvarwa . Zvisinei, mune vamwe vana, zviratidzo izvi zvinogona kuonekwa mwedzi mishoma mushure mekuzvarwa. Saka, sevabereki, tinofanira kugara tichifunga nezvekukura kwemwana wedu nehutano hwake.

Ndezvipi zvinetso zvinogona kuitika zveBarth syndrome?

Vana vane chirwere ichi vari panjodzi yematambudziko akasiyana-siyana, anosanganisira:

• Matambudziko ekudya uye kushaya chikafu chakakwana .
• Manyoka anowanzoitika.
• Musoro nekurwadziwa kwemuviri.
• Kuderera kweshuga muropa, kureva kuti , hypoglycemia .
• Kutetepa uye kusasimba kwemapfupa, ndiko kuti, osteoporosis .
• Kuneta zvisina kujairika, kunzwa kuneta ( kuneta ).
• Kusakwanisa kudzidza zviri nyore, kunyanya muzvidzidzo zvakaita semasvomhu.
• Kuitika kakawanda kwemaronda emuromo (maronda emumuromo).

Matambudziko aya haaitike kune wese munhu nenzira imwechete, asi kuziva nezvawo kunogona kukubatsira kutanga kurapwa nekukurumidza.

Chirwere cheBarth chinoonekwa sei? (Kuongororwa)

Kana zviratidzo zveBarth syndrome zvikaonekwa nekukurumidza, kurapwa kunogona kutanga kumwana nekukurumidza. Izvi zvinogona kubatsira kudzora kufambira mberi kwezviratidzo uye kudzivirira matambudziko.

Kuongororwa kwakawanda kungadiwa kuti chirwere chiongororwe nemazvo. Semuenzaniso:

• Kuongororwa kunosanganisira kutora chidimbu chidiki chetsandanyama yemwoyo kana imwe tsandanyama. Izvi zvinonzi biopsy.Imwe inonzi izvi. Izvi zvinotarisa zvikanganiso mu mitochondria nezvimwe zvinhu zvisina kumira zvakanaka.
• Kuongororwa kweEchocardiogram kuti uone mashandiro emoyo.
• Kuongororwa kwemajini kuti zvionekwe kuti pane shanduko yemajini inokonzera chirwere cheBarth.
• Kuongororwa kweweti kunoratidza huwandu hwakawanda hwe organic acids muweti uye huwandu hwakaderera hwemasero ekudzivirira muviri (kunyanya ma neutrophils).

Ndingaziva sei kana mwana wangu achida kuongororwa chirwere cheBarth?

Kana mwana wako aine zviratidzo zvekunonoka kukura uye zviratidzo zvine chekuita nekushaya simba kwetsandanyama dzemwoyo (cardiomyopathy) , uye vanachiremba vasingakwanise kuwana chikonzero chakajeka, vanogona kukurudzira kuti aongororwe chirwere cheBarth. Zviratidzo zvecardiomyopathy zvinogona kusanganisira dzungu, kurova kwemoyo kusina kurongeka ( arrhythmia ), uye kunzwa ruzha rwemwoyo rusina kujairika ( heart murmur ).

Ndeipi mishonga yekurapa chirwere cheBarth?

Iri ndiro dambudziko guru rine vanhu vazhinji. Kutaura chokwadi, hapana mushonga weBarth syndrome parizvino . Asi musazvidya moyo. Chinangwa chikuru chekurapa ndechekudzivirira nekurapa matambudziko . Izvi zvinobatsira kuchengetedza hupenyu hwemwana zvakanyanya sezvinobvira. Mwana angangoda kurapwa kwakadai se:

• Mishonga inorwisa utachiona.
• Mishonga inokurudzira kugadzirwa kwemasero machena eropa.
• Mishonga yekudzora matambudziko emwoyo. Mienzaniso inosanganisira ACE inhibitors, diuretics, uye beta-blockers .
• Kurapa muviri uye kurapwa kwebasa kuti zvibudirire kugadzirisa matambudziko ekukura kwemuviri.
• Kana mwoyo wako wakundikana zvakanyanya, kuisirwa moyo kunogona kutodiwa.

Chinhu chinonyanya kukosha ndechekupa mishonga iyi yese zvichienderana nezano rechiremba uye nenzira yakakodzera mwana wega wega.

Ndezvipi zvimwe zvakakosha kuziva nezvekurapa chirwere cheBarth?

Zvakakosha kugara uchiongororwa kuti uone kuti mwana wako ari kupindura sei pakurapwa. Zvinodiwa nemwana wako zvinogona kuchinja nekufamba kwenguva. Kuongororwa uku kunoita kuti zvive nyore kuchinja kurapwa matambudziko asati amuka.

Miedzo iyi inosanganisirawo bvunzo dzeropa (bvunzo dzemurabhoritari) kuti vaone kushanda kwemasoja emuviri. Kana huwandu hwema neutrophil hwakaderera, mishonga inorwisa mabhakitiriya inogona kupihwa kudzivirira hutachiona.

Chirwere cheBarth chinogona kudzivirirwa here?

Chirwere cheBarth chirwere chinokonzerwa nemajini . Izvi zvinoreva kuti chinogara nhaka. Saka, mwana ane chirwere cheBarth achava nacho kweupenyu hwake hwese.

Zvisinei, kana uri kufunga nezvekutanga mhuri, kana kuti uri kutarisira mumwe mwana, uye mumwe munhu mumhuri yako aine chirwere cheBarth (nhoroondo yemhuri), kuongororwa kwemajini kunogona kubatsira zvikuru. Kuongororwa uku kunogona kukuudza kana iwe nemumwe wako muri vatakuri veTAZ gene mutation. Kana uri mutakuri, unogona kusangana nenyanzvi yezvemajini kuti mukurukure nezvemikana yekuva nemwana ane chirwere cheBarth.

Ndeipi nguva yekurarama kwevanhu vane chirwere cheBarth?

Kare, nguva yekurarama kwevana vane chirwere ichi yaive pfupi zvikuru. Vaiwanzofa vachiri vacheche nekuda kwematambudziko emwoyo. Zvisinei, nekuongororwa nekukurumidza uye kurapwa kwakakodzera, varwere vava kurarama kwenguva yakareba . Nekufambira mberi kwesainzi, vanhu vazhinji vava kurarama kusvika pamakore ekuma40, uye dzimwe nguva kupfuura ipapo. Panewo tariro yekuti mishonga mitsva ichawanikwa mune ramangwana.

Zvakaita sei kurarama neBarth syndrome?

Chirwere cheBarth chinogona kukanganisa kukura kwemwana. Vana vazhinji vanoberekwa vari vadiki uye vanogona kuva neurefu hupfupi pavanenge vakura.

Kushaya simba kwetsandanyama nezvimwe zvinetso zvinogona kukonzera kunonoka kukura kwemuviri. Semuenzaniso, vanogona kunetseka nekukambaira, kufamba, uye kuchengetedza kuenzana. Vanogonawo kunzwa kuneta nyore nyore, kunyanya mushure mekuita maekisesaizi.

Zvisinei, chirwere cheBarth hachiwanzo kanganisa njere dzemwana . Zvisinei, panogona kunge paine matambudziko madiki pakugadzirisa matambudziko emasvomhu kana kunzwisisa zvimwe zvinhu. Nokudaro, vana vakadaro vanoda kutarisirwa kwakakosha nerutsigiro.

Ndingabatsira sei mwana wangu kugadzirisa matambudziko emwoyo anokonzerwa neBarth syndrome?

Kutevedzera mararamiro ane hutano kunogona kuderedza kushushikana pamoyo wemwana kusvika pamwero wakati.

• Ipai kudya kwakanaka .
• Deredza mvura inonwiwa sezvakarairwa nachiremba wako.
• Kurudzirai kuita zviito zvemuviri zvishoma . Zvisinei, zvakakoshawo kuvapa nguva yakakwana yekuzorora mushure mezviitiko zvakadaro. Funga nezvezvinhu zvakaita sekufamba kwenguva pfupi kana kutamba zvishoma nezvishoma.

Pakupedzisira, meseji yekudzokera nayo kumba

Barth Syndrome chirwere chemajini chinokanganisa moyo, masoja emuviri, tsandanyama, nezvimwewo. Chinonyanya kubata vakomana. Zviratidzo zvinogona kuonekwa pakuzvarwa kana nguva pfupi mushure mekuzvarwa. Kunyangwe matambudziko emwoyo achigona kupfupisa hupenyu hwevana vane Barth Syndrome, izvi hazvichaitiki.

Kunyange hazvo pasina mushonga chaiwo weizvi, kuongororwa nekukurumidza uye kurapwa kwakakodzera kunogona kuderedza njodzi yematambudziko uye kuwedzera kunaka kwehupenyu.

Saka, kana uchifungidzira kuti mwana wako ane zviratidzo izvi, usavhunduka, uye tsvaga mazano kubva kuna chiremba ane hunyanzvi nekukurumidza. Nekuti sekondi yega yega inobatsira.

` Barth syndrome, zvirwere zvemajini, zvirwere zvevana, zvirwere zvemwoyo, masoja emuviri, kushaya simba kwetsandanyama, TAZ gene