Ngaba umntwana wakho unazo ezi mpawu? Masifunde nge-ALD (Adrenoleukodystrophy)

Ngaba wakha weva ngemeko ebizwa ngokuba yi-ALD (Adrenoleukodystrophy)? Eli gama lisenokuvakala liyinkimbinkimbi. Kodwa masiyigcine ilula. Yimeko yemfuza, oko kuthetha ukuba yinto esiyizuza njengelifa kubazali bethu. Ichaphazela ngokukodwa inkqubo yethu yemithambo-luvo kunye namadlala e-adrenal. Ngamanye amaxesha, ezi mpawu zinokuhamba notshintsho kwindlela yokuziphatha kunye nobunzima bokufunda ebantwaneni abancinci.

Yintoni i-ALD (Adrenoleukodystrophy)? Masiyiqonde ngokulula.

Kulungile, masiqale sibone ukuba yintoni kanye kanye i-ALD. I-ALD sisifo esingaqhelekanga esikwiqela leengxaki zemfuza . Eli qela libizwa ngokuba yi-"Leukodystrophies." Ngamafutshane, ezi zifo zibangelwa lutshintsho, okanye utshintsho, kwiijini zomzimba wethu, oko kukuthi, i-"DNA" yethu. I-"DNA" yethu ifana neseti yemiyalelo yendlela umzimba wethu omele usebenze ngayo.

I-ALD sisifo esiqhubekekayo, oko kuthetha ukuba siya sibi kancinci kancinci. Ke ngoko, injongo ephambili yonyango kukucothisa ukuqhubela phambili kwesi sifo nokubonelela izigulane ngomgangatho ongcono wobomi.

Kwenzeka ntoni emzimbeni one-ALD?

Kumntu one-ALD, umzimba awukwazi ukuqhekeza ngokufanelekileyo iintlobo ezithile zamafutha, ingakumbi ii-Very-Long-Chain Fatty Acids (ii-VLCFA). Oku kufana nenkunkuma ekhayeni lethu engenakususwa. Ngoko ke, ezi VLCFA ziqala ukuqokelelana engqondweni, kwinkqubo yemithambo-luvo, nakwi -adrenal cortex, eyinxalenye engaphandle ye-adrenal gland.

Izazinzulu azikaqiniseki ngokupheleleyo ukuba kwenzeka ntoni emzimbeni xa ezi VLCFAs ziqokelelana. Kodwa uphando lubonisa ukuba zibangela ukudumba kwaye zonakalisa isigqubuthelo esikhuselayo esijikeleze iiseli zemithambo-luvo ebuchotsheni bethu, esibizwa ngokuba yi myelin sheath .

Cinga ngayo njengeplastiki ejikeleze ucingo. Xa iphelile, ucingo alusebenzi kakuhle. Ngokufanayo, xa i-myelin sheath yonakele, iiseli zemithambo-luvo azikwazi ukuthumela imiyalezo esuka engqondweni iye kuwo wonke umzimba. Oku kunokuphazamisana nemisebenzi emininzi yomzimba, njengokuhamba nokucinga.

I-ALD ikwayonakalisa amadlala e-adrenal, nto leyo enokubangela ukwehla kweehomoni ezithile emzimbeni. La madlala e-adrenal akwindawo engaphezulu kwezintso zethu. Avelisa iihomoni ezichaphazela iimpawu zamadoda nabasetyhini kunye neehomoni ezisabela kuxinzelelo.

I-ALD ifunyanwa njani njengelifa?

Ngenxa yokuba i-ALD sisifo esibangelwa yimfuza, sinokufunyanwa ngumzali omnye okanye bobabini. Ibangelwa yingxaki ye-chromosome ye-X , ngamanye amaxesha ebizwa ngokuba yi-X-linked ALD.

Ixhaphake kangakanani i-ALD?

Esi sisifo esingaqhelekanga ngokwenene.Kwihlabathi liphela, esi sifo sichaphazela umntu omnye kwabayi-15 000. Sixhaphake kakhulu kumadoda kunakwabasetyhini.

Yintoni ebangela i-ALD?

Eyona nto ibangela i-ALD kukuguquka kwejini ethile. Iijini zethu zifana neseti yemiyalelo yokwenza iiproteni ezibalulekileyo ukuze umzimba usebenze. Xa ijini itshintsha, inokubangela ukuba kuveliswe uhlobo olungalunganga lweproteni.

Kwi-ALD, ingxaki ikwijini ebizwa ngokuba yi-`(ABCD1)`. Le jini ivelisa iproteni ebizwa ngokuba yi-`(ALDP)`. Le protein yiyo enceda ekuqhekezeni ii-`(VLCFAs)` ebesithethe ngazo ngaphambili. Ngoko ke, ngenxa yokuba le protein ayiveliswanga kakuhle, ii-`(VLCFAs)` ziyaqokelelana kwizicubu zomzimba.

Ziziphi iintlobo ezahlukeneyo ze-ALD?

Kukho iintlobo ezininzi eziphambili ze-ALD:

• I-ALD yobuchopho yobuntwana: Amakhwenkwe anolu hlobo adla ngokuqala ukubonisa iimpawu zenkqubo yemithambo-luvo phakathi kweminyaka emi-3 neli-10. Okumangalisayo kukuba, aba bantwana bakhula ngokuqhelekileyo ngexesha lobuntwana. Emva koko, ubuchule babo buqala ukwehla kancinci kancinci. Badla ngokubonisa iingxaki zokuziphatha, ezifana nobunzima bokugxila esikolweni. Ukuxhuzula kunokubakho. Umntwana usenokufa kwiminyaka embalwa emva kokuqala kwezi mpawu.
• Isifo sika-Addison esine-ALD: Kunye neempawu zenkqubo yemithambo-luvo, i-ALD inokubangela ukuba amadlala e-adrenal ayeke ukusebenza kakuhle. Oku kubizwa ngokuba sisifo sika-Addison . Kule meko, amadlala akho e-adrenal awavelisi ngokwaneleyo i- cortisol yehomoni. Iimpawu ziquka ukungabi namdla wokutya kunye nobuthathaka bemisipha.
• I-Adrenomyeloneuropathy (AMN) okanye i-ALD yabantu abadala: Olu luhlobo lwe-ALD olungenamandla kangako. Ludla ngokuqala phakathi kweminyaka engama-21 nama-35 ubudala. Abantu abane-AMN baneengxaki kwi-adrenal glands nakwinkqubo yemithambo-luvo. I-ALD yabantu abadala ayibi mandundu njenge-ALD yobuntwana, kodwa inokubangela ukuba ukusebenza kwengqondo kwehle kubantu abadala. Iimpawu ziquka ukuqaqamba kwemilenze kunye nentlungu emalungeni.

Ukongeza koku, kukho ezinye iintlobo ezininzi ezingaqhelekanga ze-ALD:

• I-ALD yokungasebenzi kakuhle kwee-adrenal kuphela: Abanye abantu banokufumana isifo sika-Addison bodwa, ngaphandle kweengxaki zenkqubo yemithambo-luvo. Malunga nomntu omnye kwabalishumi abane-ALD banolu hlobo.
• I-ALD yobuchopho yabantu abadala: Malunga nesinye kwisihlanu samadoda amadala anesifo aneengxaki zengqondo ezifana nezo ze-ALD yobuchopho yabantwana.Ekuhambeni kwexesha, ukusebenza kwabo kwengqondo kunye nemithambo-luvo kuyehla kakhulu. Abantu abadala abaninzi abanale hlobo bayafa ngenxa yesi sifo.
• Abafazi abane-ALD: Malunga nomnye kwabahlanu abafazi abane-ALD babonakalisa iimpawu xa beneminyaka engama-40 ubudala. Xa beneminyaka engama-60 ubudala, ama-90% aneempawu. Nangona kunjalo, iimpawu zihlala zincinci. Umzekelo, kunokubakho ubuthathaka obuncinci kunye nokuqina kwemilenze.

Iimpawu ze-ALD zibonakala nini?

Iimpawu ze-ALD zihlala ziqala phakathi kweminyaka emi-3 neli-10 ubudala. Nangona kunjalo, ngamanye amaxesha zinokuqala kamva ebomini. Uhlobo lwe-ALD oluqala ebuntwaneni lolona lubi kakhulu.

Ziziphi iimpawu eziqhelekileyo ze-ALD?

Uhlobo ngalunye lwe-ALD luneempawu zalo. Rhoqo, iimpawu ze-neurological kunye neze-hormone ziyabonwa.

Iimpawu ze-ALD yobuchopho ebuntwaneni:

Iimpawu ezibonakala kwizigaba zokuqala:

• Iingxaki zokuziphatha: Umzekelo, i-Attention Deficit Hyperactivity Disorder (ADHD) kunye nokukhubazeka kokufunda.
• Ukungakwazi ukuqonda: Ezi ziingxaki zokucinga nokuqonda ulwazi olutsha. Abantwana banokuziva "belahlekile kwihlabathi lamaphupha" esikolweni. Banokuba nobunzima bokufunda, ukubhala, kunye nokusombulula iingxaki zendawo.
• Ukubuyela umva: Oku kuthetha ukuba abantwana balahlekelwa zizakhono zabo zangaphambili.

Njengoko isifo siqhubeka, unokubona neempawu ezifana nezi:

• Iingxaki zokubona
• Ukuphazamiseka kokuva
• Ubunzima bokuhamba
• Ubuthathaka kunye nokuqina kwamalungu omzimba
• Ukuxhuzula kunye nokuxhuzula
• Isifo sengqondo esixhalabisayo
• Ubunzima bokutya
• Ukuhlanza

Ekugqibeleni, abantwana balahlekelwa yimisebenzi emininzi yenkqubo yabo yemithambo-luvo. Balahlekelwa kukubona, kukuva, kunye nokuhamba ngokuzithandela. Njengoko isifo siqhubeka, abantwana bangena 'kwimeko yokungakhuli kakuhle.' Abantwana badla ngokufa kwiminyaka emibini ukuya kwemithathu emva kokuqala kweempawu zemithambo-luvo.

Iimpawu zesifo sika-Addison:

Iimpawu zokungasebenzi kakuhle kwe-adrenal:

• Ukudinwa
• Ukuhla ukusinda
• Isicaphucaphu nokuhlanza
• Iingxaki zokugaya ukutya
• Ukuziva ubuthathaka
• Intloko ebuhlungu kusasa
• Uxinzelelo lwegazi oluphantsi (iHypotension)
• Amanqanaba aphantsi eswekile egazini (iHypoglycemia)
• Ulusu lube mnyama ngaphandle kokufumana ukukhanya kwelanga (Ulusu olune-Hyperpigmented)

Iimpawu ze-Adrenomyeloneuropathy (AMN):

Ezi ziquka:

• Ukuqaqamba, ubuthathaka, okanye ukukhubazeka kwemisipha kwimilenze engezantsi.
• I-Ataxia yimeko yemithambo-luvo echaphazela intshukumo.
• Ukungaziva mnandi kunye nentlungu.
• Ukungasebenzi kakuhle kwe-erectile.
• Ukungakwazi ukulawula ukuhamba kwamathumbu (ukungakwazi ukuzibamba).
• Ubunzima bokulawula umchamo.
• Impandla ngenxa yokwaluphala kwangethuba.

Kutheni i-ALD ichaphazela amadoda nabafazi ngeendlela ezahlukeneyo?

I-ALD sisifo semfuza esidityaniswe ne-X , oko kuthetha ukuba sibangelwa yi-gene eguquliweyo kwi-chromosome ye-X.

Abafazi banee-chromosome ezimbini ze-X. Banokuba ngabathwali besi sifo. Ngokwesiqhelo, i-chromosome enye ye-X "ayisebenzi." Oku kuthetha ukuba ii-genes ezikuloo chromosome azisebenzi.

Uninzi lwexesha, abafazi ababonisi zimpawu kuba i-gene eguquliweyo ikwi-chromosome "engasebenziyo" ye-X. Abafazi ababonisa iimpawu badla ngokuba nefomu engembi kangako ebonakala xa sele bekhulile.

Amadoda ane-chromosome enye ye-X. Ekubeni kungekho khuselo kwi-chromosome eyongezelelweyo ye-X, i-chromosome ye-X eguquliweyo inokubangela ukuba i-ALD ibe nzima ngakumbi kumadoda.

Ifunyanwa nini i-ALD?

Ezinye iintsana zifunyaniswa xa zizalwa ngexesha lokuhlolwa kosana olusandul’ ukuzalwa . Ezi mvavanyo zijonga izifo ezithile. Kwamanye amazwe, iintsana ezisandul’ ukuzalwa nazo zivavanywa i-ALD ngexesha lokuhlolwa esibhedlele. Kodwa amaxesha amaninzi, abazali okanye oogqirha bayakukrokrela oku kuphela xa bebona iimpawu kwiminyaka embalwa yokuqala yomntwana.

Abantu abanesifo sofuba esiqala kubantu abadala bafunyanwa benaso kuphela emva kokubona ugqirha ngenxa yeempawu.

Ngubani ofanele avavanyelwe i-ALD?

Abazali kunye noogqirha bafanele bacinge ukuba bane-ALD kwezi meko:

• Ukuba umntwana oyinkwenkwe one-ADD okanye i-ADHD naye uneempawu zengxaki yenkqubo yemithambo-luvo.
• Ukuba umfana uneengxaki zokuhamba okanye ukuhamba, kwaye ezo ngxaki ziya zisiba mandundu kancinci kancinci.
• Indoda yanoma yiphi na iminyaka ingaba nesifo sika-Addison, nokuba ayinazo ezinye iimpawu okanye iingxaki.
• Ukuba umfazi omdala uqalisa ukuba buthathaka kancinci kancinci kwizihlunu.

Ifunyaniswa njani i-ALD?

Oogqirha baza kuhlola imbali yezonyango yomntwana wakho kunye nembali yezonyango yosapho. Ukuba kurhanelwa ukuba umntwana wakho une-ALD, usenokuba novavanyo olufana nolu:

• Uvavanyo lwegazi ukuze kulinganiswe inqanaba le-`(VLCFA)` egazini.
• Uvavanyo lwemfuza lokujonga utshintsho lwemfuza olunxulumene ne-ALD okanye ezinye iimeko.
• Vavanya ukusebenza kwee-adrenal glands ngovavanyo lokukhuthaza i-adrenocorticotropic hormone (uvavanyo lokukhuthaza i-ACTH).
• Kwenziwa iskeni ye-MRI ukuze kubonwe ukuba i-ALD iyichaphazele njani ingqondo.

Ukuba uvavanyo lwemfuza luqinisekisa ukuba une-ALD, ugqirha wakho unokucebisa ukuba namanye amalungu osapho lwakho enze uvavanyo lwemfuza.

Ziziphi iindlela zonyango ze-ALD?

Okwangoku akukho nyango lwe-ALD. Unyango lugxile ekucothiseni ukuqhubela phambili kwesi sifo kunye nokulawula iimpawu.

Iindlela zonyango zixhomekeke kuhlobo lwe-ALD kunye neempawu. Ezi zingabandakanya:

• Unyango lwehomoni ye-adrenal: Abantu abane-ALD kufuneka bahlolwe rhoqo amadlala abo e-adrenal. Unyango lokutshintshwa kwe-corticosteroid lunokunyanga ukungasebenzi kakuhle kwe-adrenal.
• Ukufakelwa kweeseli zesiqu: Olu lolona nyango lunokunciphisa ukuqhubela phambili kwe-ALD ebantwaneni. Ukuba isifo sifunyenwe kwangethuba, olu kufakelwa lunokuthintela esi sifo. Ukuba i-MRI scan ibonisa ukuba i-ALD ichaphazele ingqondo, kodwa umntwana akabonisi zimpawu zicacileyo kuvavanyo lwe-neurological, oogqirha banokucebisa ukuba afakelwe iiseli zesiqu.
• Amayeza: Oogqirha banokunika amayeza okunceda kwiimpawu ezinje ngokungcangcazela okanye ukuqina kwemisipha.

Ezinye iindlela zonyango ezixhasayo:

• Ulungiso lwenyama.
• Inkxaso yengqondo.
• Imfundo ekhethekileyo.

Unyango olusekelwe kuphando:

• Unyango lwe-gene: Oku kunokutshintsha i-gene enesiphene nge-gene esebenza ngokuqhelekileyo.
• Ioyile kaLorenzo: Le yingxubevange ye-oleic acid kunye ne-erucic acid. Kuthiwa iyanciphisa amanqanaba e-VLCFA egazini. Ukuba inikwa abantwana ngaphambi kokuba kuvele iimpawu, inokulibazisa okanye inciphise ukuqala kweempawu.

Liyintoni ikamva labantwana abane-ALD?

Isiganeko somntu one-ALD sixhomekeke kuhlobo lwesifo. Isiganeko somntu one-cerebral X-ALD asiqhelekanga. Ngaphandle kokuba esi sifo sifunyenwe kwangethuba kwaye kwenziwe ukufakelwa kweeseli ze-stem, umsebenzi wabo we-neurological uba mandundu. Kwiimeko ezininzi, abantwana bayafa kwiminyaka embalwa emva kokuqala kweempawu.

Kubantu abanesifo sokuqalisa kwabantu abadala (AMN), esi sifo sinokuqhubeka kancinci kancinci kwiminyaka emininzi.

Ngaba i-ALD ingathintelwa?

Okwangoku akukho ndlela eyaziwayo yokuthintela i-ALD. Ukuba kukho umntu kusapho lwakho one-ALD, funa uvavanyo lwemfuza kunye nengcebiso njengoko kucetyisiwe ngugqirha wakho.

Ndingamphatha njani umntwana wam one-ALD?

Ukungenelela kwangoko kunika ithuba elihle lonyango oluphumelelayo. Ukuba ubona naluphi na utshintsho kwindlela umntwana wakho aziphethe ngayo okanye ubuchule bakhe bokuqonda, thetha nogqirha wakho ngoko nangoko. Kwakhona, ukuba umntwana wakho ubonakala elahlekelwa zizakhono awayenazo ngaphambili, xelela ugqirha wakho ngale nto.

Iqela lokhathalelo lomntwana wakho kufuneka liquke:

• Ugqirha wezingane.
• Ingcali yezifo zengqondo yabantwana kunye nabantu abadala.
• Ingcali yezifo zomchamo.
• Ingcali ye-Endocrinologist.
• Ingcali yezengqondo.
• Ingcali yonyango lomzimba.
• Umcebisi wezemfuza.
• Ezinye iingcali njengoko kufuneka.

Ndimele ndibuze ntoni kugqirha wam malunga ne-ALD?

Ukuba umntwana wakho ufunyaniswe ene-ALD, buza ugqirha wakho ngale nto ilandelayo:

• Ngaba umntwana wam angafakelwa i-stem cell?
• Ngaba umntwana wam udinga unyango lwe-steroid?
• Liza kuba njani ikamva lomntwana wam?
• Yintoni enye esinokuyenza ukunciphisa iimpawu zomntwana wam?
• Ngaba amanye amalungu osapho kufuneka avavanywe ngokwemfuza?
• Ngaba kukho naziphi na iimvavanyo zonyango umntwana wam anokuthi azithathele inxaxheba?

Okokugqibela, izinto ekufuneka uzikhumbule

I-ALD sisifo semfuza esichaphazela inkqubo yemithambo-luvo kunye namadlala e-adrenal. Iimpawu zihlala ziqala ebuntwaneni. Ukuba abantwana balahlekelwa zizakhono zabo zangaphambili okanye babonisa utshintsho kwindlela abaziphethe ngayo, funa ingcebiso kagqirha ngoko nangoko. Unyango lwe-ALD luqalwa ngokukhawuleza, kokukhona kunokwenzeka ukuba lucothise ukuqhubela phambili kwesi sifo. Kukho unyango oluninzi lwe-ALD, kubandakanya ukufakelwa kweeseli ze-stem, amayeza, kunye nonyango oluxhasayo. Iqela lakho lezonyango liza kuthetha nawe ngemeko ethile yomntwana wakho kunye nekamva lakhe. Ungaze woyike, kubalulekile ukuba nolwazi oluchanekileyo kwaye ulandele ingcebiso kagqirha wakho.

I- ALD, i-Adrenoleukodystrophy, Izifo zeMfuzo, Izifo zeNeurological, iiPediatrics, iiHormones, i-VLCFA