Ngaba unesifo esingaqhelekanga esichaphazela 'into emhlophe' yobuchopho bakho? Makhe sithethe ngeLeukodystrophy!

Ngaba wakha weva ngegama elithi 'Leukodystrophy'? Lisenokuvakala lingaqhelekanga kwaye kunzima ukulibiza, akunjalo? Kodwa eli libali malunga nesifo esingaqhelekanga esichaphazela inkqubo yethu yemithambo-luvo, ingakumbi ingqondo kunye nomqolo, kodwa kubaluleke kakhulu ukuba sonke siqaphele. Ngamanye amaxesha sikhathazeka kakhulu ukuba umntu osondeleyo kuthi, umntwana omncinci, unesi sifo. Ngoko ke, masithethe ngale nto namhlanje, ngendlela onokuyiqonda.

Yintoni le leukodystrophy?

Ngamafutshane, i-leukodystrophy liqela leengxaki zemithambo-luvo ezingaqhelekanga. Imithambo-luvo esebuchotsheni bethu nakwintambo yomqolo (ezifana neentambo zombane) zijikelezwe sisigqubuthelo esikhuselayo nesikhuselayo esibizwa ngokuba yi-myelin . Le myelin inceda imiyalezo yemithambo-luvo ukuba ihambe kakuhle nangokukhawuleza. Oogqirha bakwabiza olu layer lwe-myelin ngokuthi yinto emhlophe.

Cinga ngale ndlela, i-myelin ifana ne-sheath yeplastiki ejikeleze ucingo lombane. Ukuba loo sheath yonakele, umbane awuhambi kakuhle, kwaye unokubangela nokuba 'mfutshane'. Ngokufanayo, xa le sheath yokukhusela ebizwa ngokuba yi-myelin yonakele, okanye xa ingenziwa kakuhle, iiseli zethu zemithambo-luvo azikwazi ukunxibelelana kakuhle. Imiyalezo ayidluli kakuhle. Okwenzekayo kwi-leukodystrophy kukuba le myelin yonakala rhoqo. Oku kubangela ukulahleka kancinci kancinci (okuqhubekayo) komsebenzi kwinkqubo yemithambo-luvo. Unxibelelwano phakathi kwengqondo kunye nomzimba wonke luyaphela.

Ixhaphake kangakanani le meko?

Enyanisweni, i-leukodystrophy ayisiyonto ixhaphakileyo. Zonke iintlobo ze-leukodystrophy azixhaphakanga. Umzekelo, eMelika naseKhanada, zonke iintlobo ze-leukodystrophy xa zidibene zichaphazela phakathi komntu omnye kwabangama-6,000 kunye nomnye kwabangama-100,000 abazalwa bephila. Kumazwe aseAsia, ukwenzeka kwale ngxaki kuphantsi kakhulu kunesithathu kwabangama-100,000 abazalwa bephila.

Ziziphi iimpawu ze-leukodystrophy?

Le yeyona inzima kakhulu. Kuba iimpawu ze-leukodystrophy zingahluka kakhulu. Iimpawu ziyahluka ngokuxhomekeke kuhlobo lwesifo. Nangona kunjalo, kwiintlobo ezininzi ze-leukodystrophy, kukho ukwehla kancinci ekusebenzeni kwenkqubo yemithambo-luvo . Oku kunokubangela iimpawu ezahlukeneyo. Ayinguye wonke umntu oza kuba nazo zonke iimpawu.

Ngokubanzi, ezi meko zinokuchaphazela izinto ezifana nezi:

• Ukulinganisela xa uhamba: Ukungakwazi ukuhamba kakuhle, ukuwa rhoqo.
• Amandla: Ukuziva ngathi amalungu akho omzimba ayaphelelwa ngamandla, kunzima ukuphakamisa okanye ukubamba izinto.
• Ukuqonda: Ubunzima bokufunda, ukukhumbula, kunye nokugxila.
• Ukutya nokuginya: Ubunzima bokuginya ukutya, ukukrwitshwa rhoqo.
• Ukuva: Ukulahlekelwa kukuva.
• Intshukumo kunye nokulungelelanisa: Ukungakwazi ukulawula amalungu omzimba ngokufanelekileyo, ubunzima bokwenza imisebenzi ngendlela ehlelekileyo.
• Intetho: Ukungakwazi ukuthetha kakuhle, ukungakwazi ukubiza amagama ngendlela eyiyo, okanye ukulahleka kancinci kancinci kobuchule bokuthetha.
• Umbono: Ubuthathaka bokubona, ngamanye amaxesha ukulahleka ngokupheleleyo kokubona.

Cinga ngale nto, ukuba ungumntwana omncinci, ukukhula komntwana wakho kusenokucotha kunabanye abantwana. Basenokucotha ukufunda izinto ezintsha, ukudlala, nokuthetha. Konke oku kwenzeka ngenxa yokuba i-myelin yonakele, kwaye imiyalezo evela engqondweni eya emzimbeni ayihambi kakuhle.

Iintlobo ezininzi eziphambili ze-leukodystrophy

Abaphandi ngoku bafumanise iintlobo ezingaphezu kwama-50 ze-leukodystrophy. Kwaye basafumanisa iintlobo ezintsha. Uhlobo ngalunye lwe-leukodystrophy lubangelwa kukuguquka kwezakhi zofuzo okwahlukileyo. Oko kukuthi, utshintsho kwiizakhi zofuzo emizimbeni yethu. Kwakhona, uhlobo ngalunye luneempawu ezahlukeneyo. Ubudala bokuqala kweempawu buyahluka ngohlobo ngalunye.

Makhe sijonge eminye imizekelo. Ekubeni kungathabatha ixesha elide ukuchaza zonke ezi ntlobo, siza kuthetha ngezimbalwa kuphela kwezona ziphambili.

• I-Adrenoleukodystrophy (ALD): Oku kuchaphazela umba omhlophe wengqondo kunye nomgogodla, kunye namadlala e-adrenal, alawula iihomoni zethu. Iimpawu zihlala ziqala ebuntwaneni okanye ebudaleni. Unokubona izinto ezifana nobunzima bokufunda, utshintsho ekuboneni okanye ekuveni, ubunzima bokuhamba, ukudinwa, kunye nokunciphisa umzimba.

• I-leukodystrophy (ADLD) elawula ubuchopho babantu abadala: Oku kudla ngokubonakala kubantu abakwiminyaka yabo engama-40 okanye engama-50. Kubangela iingxaki ngamandla, ukuhamba, kunye nengqondo. Kunokuchaphazela nezinto ezifana noxinzelelo lwegazi kunye nesantya sentliziyo .

• Isifo sika-Alexander: Oku kubangela ukuba abantwana babe nokulibaziseka kokukhula, ukuxhuzula, kunye nobunzima bokuhamba. Sidla ngokuchaphazela iintsana ezisandul' ukuzalwa okanye abantwana abancinci. Nangona kunjalo, kukho iintlobo ezithile zesifo sika-Alexander ezinokubangela iimpawu kubantu abadala.

• Isifo saseCanavan:Kwimeko enjalo, ukukhula komntwana kuyalibaziseka, umzimba uba buthathaka, kuba nzima ukuginya ukutya, ukuxhuzula kwenzeka, umntwana uhlala engazinzi, kwaye utshintsho ekuboneni lunokwenzeka. Iimpawu zihlala zibonakala ngexesha lobuntwana. Nangona kunjalo, kukho iintlobo ezithile zezifo zezinja ezibonisa iimpawu kamva.

• Isifo sikaKrabbe: Sikwabizwa ngokuba yi-globoid cell leukodystrophy . Iimpawu zihlala ziqala ebuntwaneni. Ziquka ubuthathaka, ubunzima bokuncancisa, ukungazinzi, ukulibaziseka kokukhula, i-neuropathy ( ukuba ndindisholo nokurhawuzelela emalungwini), kunye nokuxhuzula. Ngamanye amaxesha iimpawu zinokuvela kamva ebomini.

• I-leukodystrophy ye-Metachromatic: Oku kunokwenzeka kwiintsana, abantwana abancinci, okanye nakubantu abadala. Kunokubangela utshintsho kwizakhono zokucinga, ukuziphatha, ukubona okanye ukuva, ukuxhuzula, i-neuropathy, i-dementia (ukulahlekelwa yinkumbulo ngokupheleleyo), kunye nokungaboni.

Kukho ezinye iintlobo ezininzi, ezifana ne -Cerebrotendinous xanthomatosis (CTX) , i-Childhood ataxia ene-central nervous system hypomyelination (CACH) (ekwabizwa ngokuba sisifo se-vanishing white matter (VWM) ), isifo se-Pelizaeus-Merzbacher (PMD) (esichaphazela kakhulu amakhwenkwe), kunye nesifo se-Refsum .

Kutheni kukho i-leukodystrophy?

Eyona sizathu siphambili soku kukuguquka kwezakhi zofuzo. Oko kukuthi, utshintsho kwi -DNA emizimbeni yethu. Olu tshintsho lwenzeka kwiizakhi zofuzo eziyalela ukwenziwa kwesi sigqubuthelo sokukhusela esibizwa ngokuba yi-myelin, okanye indlela esisebenza ngayo ngokufanelekileyo. Ngaphandle kwesi sigqubuthelo sokukhusela, iiseli zemithambo-luvo azinakusebenza ngokufanelekileyo.

Ezi nguqu zemfuza ngamanye amaxesha zinokufunyanwa ngabazali ukuya kubantwana babo. Oko kukuthi, zinokudluliselwa kwizizukulwana ngezizukulwana. Nangona kunjalo, ngamanye amaxesha ezi nguqu zinokuvela ngokungacwangciswanga, njengoko iiseli zikhula kwaye zahlulahlulwa.

Okubalulekileyo kukuba, abanye abantu banokuba notshintsho lwezakhi zofuzo olubangela i-leukodystrophy kodwa lungakhuli esi sifo. Sibabiza ngokuba ngabathwali. Nangona kunjalo, aba bathwali banokudlulisela utshintsho kubantwana babo. Ukuba ungumthwali wotshintsho lwezakhi zofuzo olubangela i-leukodystrophy, ungacinga ngokucebisa ngezakhi zofuzo . Umcebisi wezakhi zofuzo uza kujonga imbali yosapho lwakho aze akuncede uqonde umngcipheko wakho wokudlulisela utshintsho kubantwana bakho.

Ngaba kukho naziphi na izinto ezibangela umngcipheko ezichaphazela oku?

Enyanisweni, akukho zinto zithile ezinokubangela umngcipheko onokuthintela i-leukodystrophy. Oku kungenxa yokuba yimfuza. Nangona kunjalo, amanye amaqela eentlanga afunyenwe enethuba elincinci lokufumana ezinye iintlobo ze-leukodystrophy. Uninzi lweentlobo ze-leukodystrophy zichaphazela zombini izini ngokulinganayo. Nangona kunjalo, ezinye iintlobo, ezifana nesifo sePelizaeus-Merzbacher (PMD), zichaphazela kakhulu abafana.

Ifunyanwa njani i-leukodystrophy?

Ugqirha wakho uza kuqala akubuze ngeempawu zakho aze akubuze ngembali yakho yempilo kunye neyentsapho yakho. Emva koko uza kwenza uvavanyo lomzimba kunye novavanyo lwemithambo-luvo.

Ungenza nezinye iimvavanyo ezimbalwa:

• Uvavanyo lokuhlolwa kweentsana ezisandul’ ukuzalwa: Kwamanye amazwe, olu vavanyo lusetyenziselwa ukuchonga iintlobo ezithile ze-leukodystrophies.
• Uvavanyo lwegazi kunye namathe ( uvavanyo lwemfuza ): Olu vavanyo lunokufumanisa utshintsho lwemfuza kwi-DNA yakho.
• Uvavanyo lwemifanekiso: Umzekelo , i-MRI scan ingenziwa ukujonga imeko yento emhlophe engqondweni nakwi-spinal cord.

Nangona zonke ezi mvavanyo zizonke, ukufumanisa i-leukodystrophy ngamanye amaxesha kunokuba nzima kuba iimpawu zahlukile kakhulu. Ngamanye amaxesha, uninzi lwezifo ze-leukodystrophy azifumaneki.

Ziziphi iindlela zonyango lwe-leukodystrophy?

Le yeyona nto ibalulekileyo sonke ekufuneka siyazi. Akukho nyango lwe-leukodystrophy okwangoku. Kodwa oko akuthethi ukuba akukho nto sinokuyenza. Zininzi izinto esinokuzenza ukulawula iimpawu, ukwenza ubomi bube lula kancinci, kunye nokugcina umsebenzi othile wenkqubo yemithambo-luvo.

Olu nyango lungabandakanya:

• Amayeza okuxhuzula, ukuqina kwemisipha, kunye neengxaki zokuhamba.
• Unyango lwesondlo okanye ukusetyenziswa kweetyhubhu zokutyisa xa kukho ubunzima bokutya nokuginya.
• Unyango lwehomoni kwiingxaki zokusebenza kwe-adrenal gland.
• Unyango lomzimba, unyango lomsebenzi, kunye nonyango lokuthetha ukuphucula izakhono ezifana nokuhamba, ukulinganisela, kunye nokuthetha.

Unyango lwe-gene lukhetho olutsha lokunyanga ezinye iintlobo ze-leukodystrophies. Lubandakanya ukufaka izinto ze-genetic kwiiseli ukutshintsha indlela ezivelisa ngayo iiproteni ezithile.

Ukufakelwa i-stem cell okanye ukufakelwa i-bone marrow kunokuphucula iimpawu zezinye iintlobo ze-leukodystrophy. Nangona kunjalo, olu nyango lusebenza kuphela kwiimeko ezimbalwa kakhulu. Ukuba i-cerebrotendinous xanthomatosis (CTX) ifunyaniswa kwangethuba, unyango olubizwa ngokuba yi -chenodeoxycholic acid (CDCA) lungasetyenziswa ukuyinyanga.

Ukongeza, kukho uvavanyo oluninzi lwezonyango oluqhubekayo okwangoku lokufumana unyango lweentlobo ezithile ze-leukodystrophy. Ngoko ke, ukuba wena okanye umntwana wakho unale meko, ungathetha nogqirha wakho ukuze ubone ukuba olu khetho lutsha lonyango lukulungele na.

Ingakanani ixesha lokuphila elilindelekileyo xa une-leukodystrophy?

Le yingongoma enzima neyinobuzaza ukuthetha ngayo. I-Leukodystrophy sisifo esiqhubekayo esibangela iingxaki kwinkqubo yemithambo-luvo ngokuhamba kwexesha. Abantwana abaninzi abane-leukodystrophy bayafa ngaphambi kokuba babe ngabantu abadala. Nangona kunjalo, abanye abantu baphila baze babe ngabantu abadala. Nangona ezi zifo zihlala zibulala, unyango olutsha kunye novavanyo lweklinikhi luzise ithemba elithile kwabo banale meko.

Izinto ezibalulekileyo ekufuneka sizikhumbule (Umyalezo Wokuya Ekhaya)

I-Leukodystrophy sisifo esingaqhelekanga, esizuzwe njengelifa kwinkqubo yemithambo-luvo. Yonakalisa isigqubuthelo esikhuselayo esibizwa ngokuba yi-myelin esijikeleze imithambo-luvo ebuchotsheni nakwintambo yomqolo. Ngaphandle kwe-myelin, imithambo-luvo ayikwazi ukunxibelelana kakuhle, nto leyo ebangela iimpawu ezahlukeneyo.

Nangona kungekho nyango loku okwangoku, kukho amayeza kunye nonyango olwahlukeneyo lokulawula iimpawu nokwenza ubomi bube lula. Uphando olutsha lubonise iziphumo eziphumelelayo ekunyangeni ezi meko. Khumbula, iqela lezonyango lomntwana wakho lihlala linawe, libonelela ngononophelo olungcono kumntwana wakho. Kubaluleke kakhulu ukungoyiki, ukufuna iingcebiso zonyango kwangethuba kunye nokwazi ulwazi olufanelekileyo.

I- Leukodystrophy, i-myelin, izinto ezimhlophe, izifo zemithambo-luvo, utshintsho lwemfuza, izifo zabantwana, inkqubo yemithambo-luvo