Ingabe indodana yakho inalezi zinkinga? Ake sixoxe nge-Barth Syndrome!

Kunzima ukuchaza imizwa esindayo esiyizwayo njengabazali lapho izingane zethu zigula, akunjalo? Ikakhulukazi uma kuyisimo esingavamile nesiyinkimbinkimbi, ukwesaba ezinhliziyweni zethu kuyanda nakakhulu. Namuhla sizokhuluma ngesimo esingavamile kangaka, kodwa kubaluleke kakhulu ukuthi wonke umuntu asiqaphele. Lokhu kubizwa ngokuthi i-Barth Syndrome.

Iyini i-Barth Syndrome? Masiyiqonde kalula!

Kalula nje, i-Barth syndrome iyisifo esingavamile kakhulu esibangelwa izakhi zofuzo . Sivame ukubonwa kubafana . Lesi simo singathinta izingxenye eziningana ezibalulekile zomzimba wengane. Eziyinhloko yilezi:

• Umkantsha
• Inhliziyo
• Isimiso somzimba sokuzivikela
• Imisipha

Cabanga ngakho, umzimba wethu ufana nomshini oyinkimbinkimbi onezingxenye eziningi ezisebenzisanayo. Ngakho-ke lapho kuthinteka izindawo eziningana ezibalulekile, intuthuko evamile yengane kanye nempilo yayo kungaphazamiseka ngezindlela ezahlukene.

Amantombazane awatholi yini i-Barth syndrome?

Lena inkinga abantu abaningi abanayo. Eqinisweni, amathuba okuba intombazane ibe ne-Barth syndrome aphansi kakhulu . Ngokuvamile, amantombazane aphethe ukuguquka kwezakhi zofuzo okubangela lesi sifo awabonisi izimpawu. Abizwa ngokuthi "abathwali." Lokhu kusho ukuthi abanaso lesi sifo, kodwa bangadlulisela isakhi sofuzo ezinganeni zabo. Ngamanye amazwi, umfana unamathuba amaningi okuthola lesi sifo njengefa.

Sivame kangakanani lesi simo?

I-Barth syndrome iyisimo esingavamile kakhulu . Ngokwezibalo, lesi simo sibikwa cishe kubantwana abangu-300,000 abazalwa. Ngakho-ke ungase ungazwa okuningi ngaso. Kodwa yize singavamile, kubaluleke kakhulu ukuqaphela.

Yini ebangela i-Barth syndrome?

Imbangela enkulu yalokhu ukuguquka kwezakhi zofuzo okuthiwa i-Tafazzin (TAZ) . Le zakhi zofuzo ezibizwa nge-TAZ zitholakala ku-chromosome X. Njengoba wazi, i-chromosome X yinto enethonya elikhulu ekukhuleni komzimba.

Omunye wemisebenzi eyinhloko ye-gene ye-TAZ ukuqondisa ukukhiqizwa kweprotheni edingwa yi -mitochondria , izitshalo zamandla ezincane ngaphakathi kwamaseli ethu ezikhiqiza amandla. Lezi mitochondria nazo zihilelekile ekukhuleni kwamathambo.

Ngakho-ke, uma kukhona ukuguquka kwezakhi zofuzo ze-TAZ, iphrotheni eliyikhiqizayo ayisebenzi kahle. Lokhu kusho ukuthi i-mitochondria ayinawo amandla anele, noma "uphethiloli," ukuze isebenze. Ngenxa yalokho, izicubu ezidinga amandla engeziwe - njengenhliziyo, imisipha, kanye nesistimu yomzimba - azikwazi ukusebenza kahle. Lena incazelo eyisisekelo yezinto eziphilayo ye-Barth syndrome.

Ziyini izimpawu ze-Barth syndrome?

Izimpawu ze-Barth syndrome zingahluka kumuntu nomuntu. Futhi, ubukhulu balezi zimpawu bungahluka. Ezinye izimpawu ezivamile yilezi:

• Amazinga aphezulu ngokungajwayelekile e- 3-methylglutaconic aciduria, i-organic acid, emchameni.
• I-dilated cardiomyopathy yisimo lapho amakamelo aphansi enhliziyo ekhula khona, okusho ukuthi imisipha yenhliziyo iba buthakathaka futhi inwebeke. Odokotela bakubiza lokhu ngokuthi i-dilated cardiomyopathy .
• Ukutheleleka kwamagciwane okuvamile. Isizathu salokhu ubuthakathaka besimiso somzimba sokuzivikela.
• Ukukhula okulibazisekile : Kungaba mfushane futhi kube nesisindo esingaphansi kwesabanye abantwana abaneminyaka efanayo.
• Ubuthakathaka bemisipha yenhliziyo. Lokhu kubizwa ngokuthi i-cardiomyopathy .
• Ukwehla kwenani lama-neutrophil, uhlobo lweseli elimhlophe legazi, egazini. Lesi simo sibizwa ngokuthi i-neutropenia . Lokhu kukwenza ube sengozini enkulu yokutheleleka.
• Izihlathi ezivelele.
• Ukuntuleka kwemisipha, umuzwa wokungakhululeki. Lokhu kubizwa ngokuthi i-hypotonia .
• Ubuthakathaka bemisipha yamathambo obusisiza ukuthi sinyakazise imizimba yethu. Lokhu kubizwa ngokuthi i-skeletal myopathy .

Lezi zimpawu zingavela ngokushesha kangakanani?

Esikhathini esiningi, lezi zimpawu ziyabonakala ekuzalweni . Kodwa-ke, kwezinye izingane, lezi zimpawu zingase zivele ezinyangeni ezimbalwa ngemva kokuzalwa. Ngakho-ke, njengabazali, kufanele sihlale sikhathazekile ngentuthuko kanye nempilo yengane yethu.

Yiziphi izinkinga ezingaba khona ze-Barth syndrome?

Izingane ezinalesi simo zisengozini yezinkinga ezahlukahlukene, okuhlanganisa:

• Ubunzima bokudla kanye nokungondleki kahle .
• Uhudo oluvamile.
• Ikhanda elibuhlungu kanye nobuhlungu bomzimba.
• Amazinga kashukela aphansi egazini, okungukuthi , i-hypoglycemia .
• Ukuncipha nobuthakathaka bamathambo, lokho kuyi -osteoporosis .
• Ukukhathala okungajwayelekile, ukuzizwa ukhathele ( ukukhathala ).
• Ukukhubazeka okuncane kokufunda , ikakhulukazi ezifundweni ezifana nezibalo.
• Ukuvela njalo kwezilonda emlonyeni (izilonda zomlomo).

Lezi zinkinga azenzeki kubo bonke ngendlela efanayo, kodwa ukuzazi kungakusiza ukuthi uqale ukwelashwa ngokushesha.

I-Barth syndrome itholakala kanjani? (Ukuxilongwa)

Uma izimpawu zokuqala ze-Barth syndrome zibonakala kusenesikhathi, ukwelashwa kungaqala enganeni ngokushesha okukhulu. Lokhu kungasiza ekulawuleni ukuqhubeka kwezimpawu nokuvimbela izinkinga.

Kungadingeka ukuhlolwa okuningana ukuze kutholakale isifo esinembile. Isibonelo:

• Ukuhlolwa okuhilela ukuthatha ingxenye encane yomsipha wenhliziyo noma ezinye izicubu zemisipha. Lokhu kubizwa ngokuthi i-biopsy.Enye ibizwa ngokuthi lokhu. Lokhu kuhlola amaphutha ku-mitochondria kanye nezinye izinkinga.
• Ukuhlolwa kwe-Echocardiogram ukuhlola ukusebenza kwenhliziyo.
• Ukuhlolwa kwezakhi zofuzo ukuqinisekisa ukuguquka kwezakhi zofuzo okubangela i-Barth syndrome.
• Ukuhlolwa komchamo okuthola amazinga aphezulu ama-organic acid emchameni kanye namazinga aphansi amaseli omzimba (ikakhulukazi ama-neutrophils).

Ngingazi kanjani ukuthi ingane yami idinga ukuhlolwa i-Barth syndrome?

Uma ingane yakho inezimpawu zokulibaziseka kokukhula kanye nezimpawu ezihlobene nobuthakathaka bemisipha yenhliziyo (cardiomyopathy) , futhi odokotela bengakwazi ukuthola imbangela ecacile, bangase batuse ukuhlolwa kwe-Barth syndrome. Izimpawu ze-cardiomyopathy zingafaka phakathi isiyezi, ukushaya kwenhliziyo okungajwayelekile ( arrhythmia ), kanye nokuzwa umsindo wenhliziyo ongajwayelekile ( ukububula kwenhliziyo ).

Yiziphi izindlela zokwelapha i-Barth syndrome?

Lena yinkinga enkulu abantu abaningi abanayo. Uma ngikhuluma iqiniso, alikho ikhambi le-Barth syndrome okwamanje . Kodwa ungakhathazeki. Umgomo oyinhloko wokwelashwa ukuvimbela nokwelapha izinkinga . Lokhu kusiza ukugcina izinga lempilo yengane ngangokunokwenzeka. Ingane ingadinga ukwelashwa okufana nalokhu:

• Ama-antibiotic okutheleleka.
• Imithi ekhuthaza ukukhiqizwa kwamangqamuzana amhlophe egazi.
• Imithi yokulawula izinkinga zenhliziyo. Izibonelo zifaka phakathi ama-ACE inhibitors, ama-diuretics, kanye nama-beta-blockers .
• Ukwelashwa ngokomzimba kanye nokwelashwa ngokomsebenzi ukuze kubhekane ngempumelelo nezinselele zokukhula ngokomzimba.
• Ezimweni zokwehluleka okukhulu kwenhliziyo, kungase kudingeke ngisho nokufakelwa inhliziyo .

Into ebaluleke kakhulu ukunikeza zonke lezi zindlela zokwelapha ngokweseluleko sezokwelapha nangendlela efanele ingane ngayinye.

Yini enye ebalulekile okufanele uyazi ngokwelashwa kwe-Barth syndrome?

Kubalulekile ukuhlolwa njalo ukuze kuqashwe ukuthi ingane yakho isabela kanjani ekwelashweni. Izidingo zokunakekelwa kwengane yakho zingashintsha ngokuhamba kwesikhathi. Lokhu kuhlolwa okuvamile kwenza kube lula ukushintsha ukwelashwa ngaphambi kokuba kuvele izinkinga.

Lezi zivivinyo zihlanganisa nokuhlolwa kwegazi (izivivinyo zelebhu) ukuhlola ukusebenza kwesimiso somzimba sokuzivikela. Uma izinga le-neutrophil liphansi, ama-antibiotic anganikezwa ukuvimbela ukutheleleka.

Ingabe i-Barth syndrome ingavinjelwa?

I-Barth syndrome iyisimo sofuzo . Lokhu kusho ukuthi izuzwe njengefa. Ngakho-ke, ingane enesifo i-Barth syndrome izoba naso impilo yayo yonke.

Kodwa-ke, uma ucabanga ukuqala umndeni, noma uma ulindele omunye umntwana, futhi othile emndenini wakho ene-Barth syndrome (umlando womndeni), ukuhlolwa kofuzo kungaba usizo kakhulu. Lokhu kuhlolwa kungakutshela ukuthi wena nomlingani wakho ningabathwali bokuguqulwa kofuzo lwe-TAZ. Uma ungumthwali, ungahlangana nomeluleki wezakhi zofuzo ukuze nixoxe ngamathuba okuba nengane ene-Barth syndrome.

Iyini isikhathi sokuphila kwabantu abane-Barth syndrome?

Esikhathini esidlule, isikhathi sokuphila sezingane ezinalesi simo sasifushane kakhulu. Babevame ukufa besebancane ngenxa yezinkinga zenhliziyo. Kodwa-ke, ngokuxilongwa kusenesikhathi kanye nokwelashwa okufanele, iziguli manje seziphila isikhathi eside . Ngokuthuthuka kwesayensi, abantu abaningi manje baphila baze bafike eminyakeni yabo engama-40, futhi ngezinye izikhathi isikhathi eside nakakhulu. Kukhona nethemba lokuthi ukwelashwa okusha kuzotholakala esikhathini esizayo.

Kunjani ukuphila nesifo i-Barth syndrome?

I-Barth syndrome ingathinta ukukhula kwengane. Izingane eziningi zizalwa zincane futhi zingase zibe zimfushane uma sezikhulile.

Ubuthakathaka bemisipha kanye nezinye izinkinga kungabangela ukubambezeleka ekukhuleni ngokomzimba. Isibonelo, bangase babe nobunzima bokukhasa, ukuhamba, kanye nokulinganisela. Bangase futhi bazizwe bekhathele kalula, ikakhulukazi ngemva kokusebenza ngokomzimba.

Kodwa-ke, i-Barth syndrome ayivamisile ukuthinta ukuhlakanipha kwengane . Kodwa-ke, kungase kube nezinselele ezincane ekuxazululeni izinkinga zezibalo noma ekuqondeni ezinye zezihloko. Ngakho-ke, izingane ezinjalo zidinga ukunakwa okukhethekile nokusekelwa.

Ngingamsiza kanjani ingane yami ukuthi ibhekane nezinkinga zenhliziyo ezibangelwa yi-Barth syndrome?

Ukulandela indlela yokuphila enempilo kunganciphisa ukucindezeleka enhliziyweni yengane ngezinga elithile.

• Nikeza ukudla okunempilo .
• Nciphisa uketshezi njengoba kuqondiswe udokotela wakho.
• Khuthaza umsebenzi womzimba olula . Kodwa-ke, kubalulekile futhi ukubanika isikhathi esanele sokuphumula ngemva kwemisebenzi enjalo. Cabanga ngezinto ezifana nokuhamba ibanga elifushane noma umdlalo ohamba kancane.

Ekugcineni, umyalezo okufanele uwuthathe uye nawo ekhaya

I-Barth Syndrome iyisifo sofuzo esithinta inhliziyo, amasosha omzimba, imisipha, nokunye. Ithinta kakhulu abafana. Izimpawu zingase zivele ekuzalweni noma ngokushesha ngemva kwalokho. Nakuba izinkinga zenhliziyo zinganciphisa isikhathi sokuphila kwezingane ezine-Barth Syndrome, lokhu akusekho.

Nakuba kungekho ikhambi eliqondile lalokhu, ukuxilongwa kusenesikhathi kanye nokwelashwa okufanele kunganciphisa ingozi yezinkinga futhi kwandise izinga lempilo.

Ngakho-ke, uma usola ukuthi ingane yakho inalezi zimpawu, ungesabi, futhi funa iseluleko kudokotela ofanelekayo ngokushesha okukhulu. Ngoba umzuzwana ngamunye uyakufanelekela lokho.

I- Barth syndrome, izifo zofuzo, izifo zobuntwana, izifo zenhliziyo, isimiso somzimba sokuzivikela, ubuthakathaka bemisipha, i-TAZ gene