Ingabe ingane yakho inalezi zimpawu? Ake sifunde nge-ALD (Adrenoleukodystrophy)

Wake wezwa ngesimo esibizwa ngokuthi i-ALD (Adrenoleukodystrophy)? Igama lingase lizwakale liyinkimbinkimbi kancane. Kodwa masigcine lilula. Kuyisimo sofuzo, okusho ukuthi kuyinto esiyizuza njengefa kubazali bethu. Sithinta ngqo isimiso sethu sezinzwa kanye nezindlala ze-adrenal. Ngezinye izikhathi, lezi zimpawu zingahambisana nezinguquko zokuziphatha kanye nobunzima bokufunda ezinganeni ezincane.

Kuyini i-ALD (Adrenoleukodystrophy)? Masiyiqonde kalula.

Kulungile, ake siqale sibone ukuthi iyini ngempela i-ALD. I-ALD yisifo esingavamile esingeseqembu lezifo zofuzo . Leli qembu libizwa ngokuthi "i-Leukodystrophies." Kalula nje, lezi zifo zibangelwa ushintsho, noma ukuguquka kwezakhi zofuzo zomzimba wethu, okungukuthi, "i-DNA" yethu. "I-DNA" yethu ifana nesethi yemiyalelo yokuthi umzimba wethu kufanele usebenze kanjani.

I-ALD yisifo esiqhubekayo, okusho ukuthi siba sibi kancane kancane. Ngakho-ke, umgomo oyinhloko wokwelashwa ukunciphisa ukuqhubekela phambili kwesifo nokunikeza iziguli impilo engcono.

Kwenzekani emzimbeni one-ALD?

Kumuntu one-ALD, umzimba awukwazi ukuphula kahle izinhlobo ezithile zamafutha, ikakhulukazi ama-Very-Long-Chain Fatty Acids (ama-VLCFA). Lokhu kufana nodoti endlini yethu ongenakususwa. Ngakho-ke, la ma-VLCFA aqala ukuqongelela ebuchosheni, ohlelweni lwezinzwa, kanye ne-adrenal cortex, okuyingxenye engaphandle kakhulu yendlala ye-adrenal.

Ososayensi abakaqiniseki ngokuphelele ukuthi kwenzekani ngempela emzimbeni lapho la ma-VLCFA eqoqana. Kodwa ucwaningo lubonisa ukuthi abangela ukuvuvukala futhi alimaze isembozo sokuvikela esizungeze amangqamuzana ezinzwa ebuchosheni bethu, esibizwa ngokuthi i-myelin sheath .

Cabanga ngakho njengesigxobo sepulasitiki esizungeze ucingo. Uma luhambile, ucingo alusebenzi kahle. Ngokufanayo, lapho isigxobo se-myelin sonakele, amangqamuzana ezinzwa awakwazi ukuthumela imiyalezo evela ebuchosheni iye kuwo wonke umzimba. Lokhu kungaphazamisa imisebenzi eminingi yomzimba, njengokuhamba nokucabanga.

I-ALD ilimaza nezindlala ze-adrenal, okungaholela ekunciphiseni kwama -hormone athile emzimbeni. Lezi zindlala ze-adrenal zitholakala ngaphezu kwezinso zethu. Zikhiqiza ama-hormone athinta izici zabesilisa nabesifazane kanye nama-hormone asabela ekucindezelekeni.

I-ALD izuzwa kanjani njengefa?

Ngenxa yokuthi i-ALD iyisifo esibangelwa izakhi zofuzo, ingazuzwa njengefa kumzali oyedwa noma bobabili. Ibangelwa inkinga nge-chromosome X , ngezinye izikhathi ebizwa ngokuthi i-X-linked ALD.

Ivame kangakanani i-ALD?

Lesi yisifo esingavamile ngempela.Emhlabeni wonke, lesi sifo sithinta cishe umuntu oyedwa kwabayi-15,000. Sivame kakhulu kwabesilisa kunakwabesifazane.

Yini ebangela i-ALD?

Imbangela eyinhloko ye-ALD ukuguquka kwezakhi zofuzo ezithile. Izakhi zofuzo zethu zifana nesethi yemiyalelo yokwenza amaprotheni abalulekile ukuze umzimba usebenze. Lapho izakhi zofuzo ziguquka, zingabangela ukuba kukhiqizwe uhlobo olungalungile lweprotheni.

Ku-ALD, inkinga isezakhini zofuzo ezibizwa ngokuthi `(ABCD1)`. Le zakhi zofuzo ikhiqiza iphrotheni ebizwa ngokuthi `(ALDP)`. Le phrotheni yiyona esiza ekuhlukaniseni `(ama-VLCFA)` esikhulume ngawo ngaphambili. Ngakho-ke, ngenxa yokuthi le phrotheni ayikhiqizwa kahle, `(ama-VLCFA)` aqoqana ezicutshini zomzimba.

Yiziphi izinhlobo ezahlukene ze-ALD?

Kunezinhlobo eziningana eziyinhloko ze-ALD:

• I-ALD yobuchopho ebuntwaneni: Abafana abanalolu hlobo bavame ukuqala ukukhombisa izimpawu zesimiso sezinzwa phakathi kweminyaka emi-3 neyi-10. Ngokumangalisayo, laba bantwana bakhula ngokujwayelekile ngesikhathi besebancane. Bese, amakhono abo aqala ukwehla kancane kancane. Bavame ukukhombisa izinkinga zokuziphatha, njengobunzima bokugxila esikoleni. Kungase kube nokuquleka . Ingane ingafa eminyakeni embalwa yokuqala kwalezi zimpawu.
• Isifo sika-Addison esine-ALD: Kanye nezimpawu zesimiso sezinzwa, i-ALD ingabangela ukuthi izindlala ze-adrenal ziyeke ukusebenza kahle. Lokhu kubizwa ngokuthi isifo sika-Addison . Kulesi simo, izindlala zakho ze-adrenal azikhiqizi i- cortisol eyanele. Izimpawu zifaka phakathi ukulahlekelwa yisifiso sokudla kanye nobuthakathaka bemisipha.
• I-Adrenomyeloneuropathy (AMN) noma i-ALD yabantu abadala: Lolu uhlobo lwe-ALD oluthambile. Ngokuvamile luqala phakathi kweminyaka engu-21 no-35. Abantu abane-AMN banezinkinga ngezindlala ze-adrenal kanye nesistimu yezinzwa. I-ALD yabantu abadala ayibi yimbi kakhulu njenge-ALD yobuntwana, kodwa ingabangela nokusebenza kobuchopho ukuthi kwehle kubantu abadala. Izimpawu zifaka phakathi ukuqaqamba kwemilenze kanye nobuhlungu emalungeni.

Ngaphezu kwalokhu, kunezinye izinhlobo eziningana ezingavamile ze-ALD:

• I-ALD yokuntuleka kwe-adrenal kuphela: Abanye abantu bangahlakulela isifo sika-Addison bodwa, ngaphandle kwezinkinga ngesimiso sezinzwa. Cishe umuntu oyedwa kwabayishumi abane-ALD unalolu hlobo.
• I-ALD yobuchopho yabantu abadala: Cishe ingxenye eyodwa kwezinhlanu yabesilisa abadala abanalesi sifo banezinkinga zengqondo ezifana neze-ALD yobuchopho ebuntwaneni.Ngokuhamba kwesikhathi, ukusebenza kwabo kwengqondo kanye nokwezinzwa kuyawohloka kakhulu. Abantu abadala abaningi abanalolu hlobo bayafa ngenxa yalesi sifo.
• Abesifazane abane-ALD: Cishe oyedwa kwabahlanu besifazane abane-ALD uba nezimpawu lapho eneminyaka engu-40. Lapho beneminyaka engu-60, ama-90% aba nezimpawu. Kodwa-ke, izimpawu zivame ukuba zincane. Isibonelo, kungase kube nobuthakathaka obuncane kanye nokuqina kwemilenze.

Zivela nini izimpawu ze-ALD?

Izimpawu ze-ALD zivame ukuqala phakathi kweminyaka emi-3 neyi-10. Kodwa-ke, ngezinye izikhathi zingaqala kamuva ekuphileni. Uhlobo lwe-ALD oluqala ebuntwaneni lunzima kakhulu.

Yiziphi izimpawu ezivamile ze-ALD?

Uhlobo ngalunye lwe-ALD lunezimpawu zalo. Ngokuvamile, izimpawu zemizwa kanye nezama-hormone ziyabonakala.

Izimpawu ze-ALD yobuchopho ebuntwaneni:

Izimpawu ezibonakala ezigabeni zokuqala:

• Izinkinga zokuziphatha: Isibonelo, i-Attention Deficit Hyperactivity Disorder (ADHD) kanye nokukhubazeka kokufunda.
• Ukuntuleka kokuqonda: Lokhu kuyizinkinga zokucabanga nokuqonda ulwazi olusha. Izingane zingase zizizwe "zilahlekile ezweni lamaphupho" esikoleni. Zingase zibe nobunzima bokufunda, ukubhala, nokuxazulula izinkinga zendawo.
• Ukubuyela emuva: Lokhu kusho ukuthi izingane zilahlekelwa amakhono azo angaphambilini.

Njengoba lesi sifo siqhubeka, ungase ubone nezimpawu ezifana nalezi:

• Izinkinga zokubona
• Ukukhubazeka kokuzwa
• Ubunzima bokuhamba
• Ubuthakathaka nokuqina kwamalungu
• Ukudlikizela kanye nokuquleka
• Isifo sokulahlekelwa yingqondo
• Ubunzima bokudla
• Ukuhlanza

Ekugcineni, izingane zilahlekelwa imisebenzi eminingi yesimiso sazo sezinzwa. Zilahlekelwa ukubona, ukuzwa, kanye nokunyakaza ngokuzithandela. Njengoba lesi sifo siqhubeka, izingane zingena 'esimweni sokukhula kwezitshalo.' Izingane zivame ukufa zingakapheli iminyaka emibili kuya kwemithathu kusukela ekuqaleni kwezimpawu zezinzwa.

Izimpawu zesifo sika-Addison:

Izimpawu zokungasebenzi kahle kwe-adrenal:

• Ukukhathala
• Ukwehlisa isisindo
• Isicanucanu nokuhlanza
• Izinkinga zokugaya ukudla
• Ukuzizwa ubuthakathaka
• Ubuhlungu bekhanda ekuseni
• Umfutho wegazi ophansi (i-Hypotension)
• Amazinga kashukela aphansi egazini (i-Hypoglycemia)
• Ubumnyama besikhumba ngaphandle kokuchayeka elangeni (isikhumba esine-Hyperpigmented)

Izimpawu ze-Adrenomyeloneuropathy (AMN):

Lokhu kufaka phakathi:

• Ukuqaqamba, ubuthakathaka, noma ukukhubazeka kwemisipha emilenzeni engezansi.
• I-Ataxia yisimo sezinzwa esithinta ukunyakaza.
• Ukuba ndikindiki nobuhlungu.
• Ukungasebenzi kahle kwe-Erectile.
• Ukungakwazi ukulawula ukuhamba kwamathumbu (ukungakwazi ukuzibamba).
• Ubunzima bokulawula umchamo.
• Ubumpandla obubangelwa ukuguga ngaphambi kwesikhathi.

Kungani i-ALD ithinta amadoda nabesifazane ngendlela ehlukile?

I-ALD yisifo sofuzo esixhumene ne-X , okusho ukuthi sibangelwa yi-gene eguquliwe ku-chromosome ye-X.

Abesifazane banama-chromosome amabili angu-X. Bangaba ngabathwali balesi sifo. Ngokuvamile, i-chromosome eyodwa engu-X "ayisebenzi." Lokhu kusho ukuthi izakhi zofuzo kuleyo chromosome azisebenzi.

Esikhathini esiningi, abesifazane ababonisi izimpawu ngoba i-gene eguquliwe ikwi-chromosome "engasebenzi" ye-X. Abesifazane ababonisa izimpawu bavame ukuba nesimo esingesibi kangako esibonakala lapho sebekhulile.

Abesilisa bane-chromosome eyodwa kuphela engu-X. Njengoba kungekho sivikelo kwi-chromosome eyengeziwe engu-X, i-chromosome engu-X eguquliwe ingabangela i-ALD ibe nzima kakhulu kwabesilisa.

Kutholakala nini ukuthi une-ALD?

Ezinye izingane zitholakala zinesifo ngesikhathi sokuzalwa ngesikhathi sokuhlolwa kwezinsana . Lokhu kuhlolwa kuhlola izifo ezithile. Kwamanye amazwe, izinsana ezisanda kuzalwa nazo zihlolwa i-ALD ngesikhathi sokuhlolwa esibhedlela. Kodwa ngokuvamile, abazali noma odokotela bayakusola kuphela uma bebona izimpawu eminyakeni embalwa yokuqala yengane.

Abantu abanohlobo lokuqala kwesifo kubantu abadala batholakala benalesi sifo kuphela ngemva kokubona udokotela ngenxa yezimpawu.

Ubani okufanele ahlolwe i-ALD?

Abazali nodokotela kufanele basole i-ALD kulezi zimo:

• Uma umfana one-ADD noma i-ADHD enezimpawu zokuphazamiseka kwesimiso sezinzwa.
• Uma insizwa inezinkinga zokuhamba noma ukunyakaza, futhi lezo zinkinga ziya ziba zimbi kancane kancane.
• Indoda yanoma yimuphi ubudala ingaba nesifo sika-Addison, noma ngabe ayinazo ezinye izimpawu noma izinkinga.
• Uma owesifazane osekhulile eba buthakathaka kancane kancane emisipha.

Itholakala kanjani i-ALD?

Odokotela bazobuyekeza umlando wezokwelapha wengane yakho kanye nomlando wezokwelapha womndeni. Uma kusolwa ukuthi ingane yakho ine-ALD, ingase ibe nokuhlolwa okufana nalokhu:

• Ukuhlolwa kwegazi ukuze kulinganiswe izinga `(VLCFA)` egazini.
• Ukuhlolwa kofuzo ukuze kubhekwe izinguquko zofuzo ezihlobene ne-ALD noma ezinye izimo.
• Hlola ukusebenza kwezindlala ze-adrenal ngokuhlolwa kokukhuthazwa kwehomoni ye-adrenocorticotropic (ukuhlolwa kokukhuthazwa kwe-ACTH).
• Kwenziwa i-MRI scan ukuze kubonwe ukuthi i-ALD ithinte kanjani ubuchopho.

Uma ukuhlolwa kofuzo kuqinisekisa ukuthi une-ALD, udokotela wakho angase atuse ukuthi namanye amalungu omndeni nawo ahlolwe ngofuzo.

Yiziphi izindlela zokwelapha i-ALD?

Okwamanje akukho ukwelashwa kwe-ALD. Ukwelashwa kugxile ekunciphiseni ukuqhubeka kwesifo nokulawula izimpawu.

Izinketho zokwelapha zincike ohlotsheni lwe-ALD kanye nezimpawu. Lokhu kungafaka:

• Ukwelashwa kwama-hormone e-adrenal: Abantu abane-ALD badinga ukuhlolwa njalo ngezindlala zabo ze-adrenal. Ukwelashwa kokufaka esikhundleni se-corticosteroid kungalapha ukungasebenzi kahle kwe-adrenal.
• Ukufakelwa i-stem cell: Lokhu ukuphela kokwelashwa okunganciphisa ukuqhubekela phambili kwe-ALD ezinganeni. Uma lesi sifo sitholakala kusenesikhathi, lokhu kufakelwa kungamisa lesi sifo. Uma i-MRI scan ikhombisa ukuthi i-ALD ithinte ubuchopho, kodwa ingane ingakhombisi izimpawu ezicacile ekuhlolweni kwezinzwa, odokotela bangase batuse ukufakelwa i-stem cell.
• Imithi: Odokotela bangase bakunikeze imithi yokusiza ngezimpawu ezifana nokuthuthumela noma ukuqina kwemisipha.

Ezinye izindlela zokwelapha ezisekelayo:

• Ukwelashwa ngokomzimba.
• Ukusekelwa kwengqondo.
• Imfundo ekhethekile.

Ukwelashwa okusekelwe ocwaningweni:

• Ukwelashwa ngezakhi zofuzo: Lokhu kungathatha indawo yezakhi zofuzo ezinephutha ngezakhi zofuzo ezisebenza kahle.
• Amafutha kaLorenzo: Lokhu kuyingxube ye-oleic acid kanye ne-erucic acid. Kuthiwa kunciphisa amazinga e-VLCFA egazini. Uma inikezwa izingane ngaphambi kokuba kuvele izimpawu, ingase ilibazise noma inciphise ukuqala kwezimpawu.

Liyini ikusasa lezingane ezine-ALD?

Ukubikezela kokugula komuntu one-ALD kuncike ohlotsheni lwesifo. Ukubikezela kokugula ezinganeni ezine-cerebral X-ALD ngokuvamile kubi. Ngaphandle kokuthi lesi sifo sitholakale kusenesikhathi futhi kwenziwe ukufakelwa kwe-stem cell, ukusebenza kwazo kwezinzwa kuyawohloka. Ezimweni eziningi, izingane ziyafa zingakapheli iminyaka embalwa kusukela ekuqaleni kwezimpawu.

Kubantu abanesifo sofuba esiqala ukuba sebudaleni (AMN), lesi sifo singaqhubeka kancane kancane emashumini eminyaka.

Ingabe i-ALD ingavinjelwa?

Okwamanje ayikho indlela eyaziwayo yokuvimbela i-ALD. Uma othile emndenini wakho ene-ALD, funa ukuhlolwa kofuzo kanye nokwelulekwa njengoba kunconywe udokotela wakho.

Kufanele ngiphathe kanjani ingane yami ene-ALD?

Ukungenelela kusenesikhathi kunikeza ithuba elihle kakhulu lokwelashwa okuphumelelayo. Uma ubona noma yiziphi izinguquko ekuziphatheni kwengane yakho noma emakhonweni okuqonda, khuluma nodokotela wakho ngokushesha. Futhi, uma ingane yakho ibonakala ilahlekelwa amakhono eyayinawo ngaphambili, tshela udokotela wakho ngalokhu.

Ithimba lokunakekela ingane yakho kufanele lifake:

• Udokotela wezingane.
• Udokotela wezinzwa wezingane kanye nowabantu abadala.
• Udokotela Wezifo Zomchamo.
• Udokotela we-Endocrinologist.
• Udokotela Wezifo Zengqondo.
• Uchwepheshe wezokwelapha ngokomzimba.
• Umeluleki wezakhi zofuzo.
• Abanye ochwepheshe njengoba kudingeka.

Yini okufanele ngiyibuze udokotela wami mayelana ne-ALD?

Uma ingane yakho itholakale ine-ALD, buza udokotela wakho ngalokhu okulandelayo:

• Ingabe ingane yami ingakwazi ukufakelwa i-stem cell?
• Ingabe ingane yami idinga ukwelashwa ngama-steroid?
• Lizoba njani ikusasa lengane yami?
• Yini enye esingayenza ukuze sinciphise izimpawu zengane yami?
• Ingabe amanye amalungu omndeni kufanele ahlolwe izakhi zofuzo?
• Ingabe kukhona ukuhlolwa kwezokwelapha ingane yami engahlanganyela kukho?

Okokugcina, izinto okufanele uzikhumbule

I-ALD yisifo esithinta izakhi zofuzo esithinta uhlelo lwezinzwa kanye nezindlala ze-adrenal. Izimpawu zivame ukuqala ebuntwaneni. Uma izingane zilahlekelwa amakhono azo angaphambilini noma zibonisa izinguquko ekuziphatheni, funa iseluleko sezokwelapha ngokushesha. Uma ukwelashwa kwe-ALD kuqalwa ngokushesha, kulapho kungenzeka khona ukuthi kubambezeleke ukuqhubeka kwesifo. Kunezindlela eziningana zokwelapha i-ALD, okuhlanganisa ukufakelwa amaseli e-stem, imithi, kanye nokunakekelwa okusekelayo. Ithimba lakho lezokwelapha lizokhuluma nawe ngesimo esithile sengane yakho kanye nekusasa layo. Ungalokothi wethuke, kubalulekile ukuba nolwazi olufanele futhi ulandele iseluleko sikadokotela wakho.

I- ALD, i-Adrenoleukodystrophy, Izifo Zofuzo, Izifo Zezinzwa, Izingane, Ama-hormone, i-VLCFA