Ngaba iityhefu ziyaqokelelana ngaphakathi kwiiseli zakho? Oku kumalunga neLysosomal Storage Diseases!

Ngaba wakha weva ngeLysosomal Storage Diseases, okanye iiLSD? Ezi azixhaphakanga kakhulu, oko kuthetha ukuba uninzi lwabantu aluzifumani, iimeko zemfuza. Ngamafutshane, ezi zifo zibangela izinto ezingafunekiyo nezinokuba yityhefu ukuba ziqokelele ngaphakathi kwiiseli zomzimba wethu. Makhe sithethe ngale nto ngeenkcukacha ezithe vetshe namhlanje, akunjalo?

Zithini ii-enzymes kunye nee-lysosomes? Zisebenza njani?

Khawuthelekelele ukuba yonke iseli emzimbeni wakho ifana nomzi-mveliso omncinci. Ngaphakathi kwezi mveliso, kukho icandelo elikhethekileyo elibizwa ngokuba yi-'Lysosome'. Ezi lysosomes zisebenza njengomcoci endlwini yethu. Ukuze zibancede benze lo msebenzi ngokufanelekileyo, banezisebenzi ezikhethekileyo ezibizwa ngokuba yi-'Enzymes'. Ezi enzymes zizinto ezahlukeneyo eziza kwiiseli zethu, umzekelo:

• Iicarbohydrate (izinto ezifana nefayibha, isitashi, kunye neswekile)
• IiLipids (iintlobo zamafutha)
• Iiproteni
• Iindawo zeseli ezindala, ezingasebenziyo

Zinceda ekuqhekekeni, ekuqhekekeni, nasekugayweni kwezinto ezinjalo. Le nkqubo siyibiza ngokuba yi-metabolism . Ngoko ke, ezi enzymes kunye nee-lysosomes zisebenza kunye ukugcina iiseli zethu zicocekile kwaye zisempilweni.

Ngoko ke kwenzeka ntoni kwizifo zokugcina i-lysosomal (LSDs)?

Ngoku khawucinge ngomsebenzi okhethekileyo kwicandelo lokucoca kuloo mzi-mveliso ukhankanyiweyo ngaphambili, kwenzeka ntoni ukuba i-enzyme ethile ayisebenzi kakuhle, okanye ukuba loo enzyme ayikho kwaphela? Kulapho ke ingxaki iqala khona.

Yiloo nto eyenzekayo emzimbeni womntu onesifo sokugcina i-lysosomal (LSD). Abanayo i-enzyme ethile, okanye enye into enceda loo enzyme isebenze (i-enzyme activator okanye i-modifier). Emva koko, ezo lysosomes azikwazi ukuqhekeza ngokufanelekileyo izinto ezifana namafutha kunye neeswekile ekufuneka ziqhekeke.

Kwenzeka ntoni ke ngoko? Ezi zinto zingaphukiyo ziqala ukuqokelelana ngaphakathi kweeseli. Zifana nenqwaba yenkunkuma. Ekuhambeni kwexesha, ezi zinto ziba yityhefu kwaye zonakalise iiseli. Lo monakalo unokusasazeka kwaye uchaphazele amalungu ahlukeneyo emzimbeni wethu. Umzekelo:

• Ingqondo
• Inkqubo yeNervous ephakathi
• Intliziyo
• Inkqubo Yamathambo
• Ulusu

Oku kwenzeka kwisifo sokugcina i-lysosomal (LSD), ukuba sitsho nje.

Ngaba kukho iintlobo zezifo zokugcina i-lysosomal (LSDs)?

Ewe, ukuza kuthi ga ngoku, abaphandi bafumanise iintlobo ezingaphezu kwama-50 zezifo zokugcina i-lysosomal (LSDs). Iintlobo ezintsha zisafunyanwa. Inzima kakhulu, akunjalo?

Ngokubanzi, ezi zifo zinokwahlulwa zibe ziintlobo ezintathu eziphambili kuxhomekeke kwi-enzyme enganelanga.

IiLipidoses

Olu hlobo lwesifo lwenzeka xa umzimba ungenayo i-enzyme efunekayo ukuqhekeza amafutha (i-lipids). Eminye imizekelo yile:

• Isifo Sokugcinwa Kwe-Cholesteryl Ester
• Isifo sikaWolman

I-Mucopolysaccharidoses

Oku kwenzeka xa i-enzyme efunekayo ukuqhekeza i -glycosaminoglycans, uhlobo lwemolekyuli yeswekile eyinkimbinkimbi, ingekho. Imizekelo ibandakanya:

• Isifo soMzingeli
• Isifo sikaHurler

IiSphingolipidoses

Olu hlobo lwenzeka xa kukho ukunqongophala kwe-enzyme eqhekeza uhlobo oluthile lwamafutha olubizwa ngokuba yi-sphingolipids . Ezi sphingolipids zizinto ezenza imisebenzi ekhethekileyo, njengokukhusela umphezulu weeseli zethu. Ezinye izifo eziwela kolu didi zezi:

• Isifo sikaFabry
• Isifo seGaucher
• Isifo sikaKrabbe / iGloboid Cell Leukodystrophy
• I-Leukodystrophy yeMetachromatic
• Isifo sikaNiemann-Pick (NP)
• Isifo seSandhoff
• Isifo sikaTay-Sachs

Ezinye iintlobo ze-LSD

Ukongeza kwezi ndidi ziphambili, kukho nezinye iintlobo ze-LSD. Umzekelo:

• Isifo seBatten
• I-Cystinosis
• Isifo saseDanon
• Isifo sePompe

Uyabona, zonke ezi zifo zibangelwa kukunqongophala kwe-enzyme ethile. Esi sifo kunye nemiphumo yaso ziyahluka ngokuxhomekeke kwi-enzyme enqongopheleyo.

Ngubani onokuvelisa ezi zifo zokugcina i-lysosomal (LSDs)? Zixhaphake kangakanani?

Enyanisweni, nabani na unokufumana isifo sokugcina i-lysosomal (LSD). Nangona kunjalo, amanye amaqela eentlanga kunye nemimandla anamathuba amaninzi okuba nesi sifo. Umzekelo, ezinye iintlobo ze-LSD zixhaphake kakhulu kumaYuda aseMpuma Yurophu nakubantu baseFinland.

Ezi zifo zixhaphake kakhulu kangangokuba umntu omnye kuphela kubantu abangama-40,000 ukuya kuma-60,000 une-LSD. Oku kuthetha ukuba ezi zifo ziliqela elingaqhelekanga . Yiyo loo nto abantu abaninzi bengazange beve ngazo.

Yintoni ebangela izifo zokugcina i-lysosomal (LSDs)?

Izifo zokugcina i-Lysosomal (ii-LSD) ziingxaki ze-metabolic ezizuzwe njengelifa ezivela ekuzalweni kwaye zibangelwa zizinto zemfuza . Ngokuchanekileyo, uninzi lwazo zidluliselwa kwizizukulwana ngezizukulwana njenge- 'Autosomal Recessive Disorders' .

Ngoku mhlawumbi uyazibuza ukuba kuthetha ukuthini 'ukuzibuyisela ngokuzenzekelayo'. Ngamafutshane, kunje:

Ngokwesiqhelo, sifumana ikopi enye yejini nganye kumzali ngamnye. Ukuze siphuhlise i-LSD,Umntwana kufuneka afumane ikopi yejini eguquliweyo yesifo kumama nakutata. Into ebalulekileyo kukuba aba bazali bangabathwali bejini eguquliweyo kuphela. Oku kuthetha ukuba abanayo i-LSD, kodwa banayo ijini enokubangela esi sifo.

Ngoko ke, ukuba bobabini abazali banesi sifo, nantsi amathuba okuba nomntwana:

• Kukho ithuba elingama-25% (1 kwaba-4) lokuba umntwana abe sempilweni ngaphandle kokufumana nayiphi na i-gene etshintshileyo.
• Kukho ithuba elingama-25% (1 kwaba-4) lokuba umntwana afumane i-LSD (ukuba uzuze ilifa le-gene eguquliweyo kubazali bobabini).
• Kukho ithuba elingama-50% (1 kwaba-2) lokuba umntwana abe ngumthwali ongenazimpawu, njengabazali (ukuba bazuza ilifa le-gene eguquliweyo kumzali omnye kuphela).

Uyaqonda? Oku kungabonakala kunzima kancinci, kodwa yindlela izifo zemfuza ezisasazeka ngayo.

Kukho iintlobo ezithile ze-LSD ezibizwa ngokuba yi -X-linked Inheritance . Oku kuthetha ukuba i-gene yesifo ikwi-chromosome ye-X, ngoko ke umntwana (ingakumbi umntwana oyinkwenkwe) unokuzuza esi sifo kumama kuphela. Isifo sikaDanon, isifo sikaFabry, kunye neHunter Syndrome zezinye zezifo ezinjalo ezintathu.

Ukongeza kwezi zizathu zofuzo, ngamanye amaxesha ezi zinto zilandelayo zinokubangela ukwanda okanye ukuphuhliswa kwe-LSD:

• Ukudumba emzimbeni.
• Uxinzelelo lwe-oxidative lunxibelelwano phakathi komzimba kunye nee-free radicals , eziziimveliso ze-metabolism.

Ii-LSD zihlala zibonakala ngexesha lokukhulelwa okanye emva nje kokuzalwa. Nangona kunjalo, azifane ziqale nakubantu abadala. Ii-LSD eziqala ebuntwaneni zihlala zinzima kakhulu, ngelixa ezo ziqala kamva ebomini zisenokuba nzima kangako.

Zithini iimpawu zezifo zokugcina i-lysosomal (LSDs)?

Iimpawu zezi zifo zingahluka kakhulu. Kuxhomekeke koku kulandelayo:

• Kuxhomekeke ekubeni zeziphi iiseli okanye amalungu omzimba achaphazeleka yi-LSD.
• Kuxhomekeke ekubeni loluphi uhlobo lwe-LSD.

Nangona kunjalo, kukho iimpawu ezimbalwa eziqhelekileyo kwiintlobo ezininzi ze-LSD. Nazi:

• Ukwanda okungaqhelekanga kwamalungu esiswini, njengezintso, isibindi, ipancreas, ipleen, okanye isisu (i-visceromegaly).
• Utshintsho lwemisipha yamathambo.
• Iimpawu zobuso ziba rhabaxa kancinci. Umzekelo, ibunzi eliphumayo, impumlo esicaba, kunye nemilebe emikhulu .
• Ukulibaziseka kokukhula komntwana. Oku kunokwanda kancinci kancinci ngokuhamba kwexesha.

Ukuba umntwana wakho unenye okanye ngaphezulu kwezi mpawu, kubaluleke kakhulu ukubona ugqirha ngokukhawuleza ukuze akunike ingcebiso.

Zifunyaniswa njani izifo zokugcina i-lysosomal (LSDs)?

Oogqirha banokubona izifo zokugcina i-lysosomal (LSDs) ngexesha lokukhulelwa. Basebenzisa uvavanyo lokuhlolwa kwangaphambi kokukhulelwa . Umzekelo:

• I-Amniocentesis (ukuvavanya ulwelo olusesibelekweni)
• Isampuli yeChorionic Villus (uvavanyo lwenxalenye yeplacenta)

Ukujonga ii-LSD kwiintsana ezisandul’ ukuzalwa, uvavanyo lwegazi lunokwenziwa ukukhangela ii-enzymes eziphantsi. Ngamanye amaxesha, ithontsi elincinci legazi (amabala egazi omileyo) lithathwa emnweni, lisasazwe ephepheni elikhethekileyo, lishiywe lome, emva koko livavanywe ii-enzymes.

Ukuba ukrokrela ukuba wena okanye umntwana wakho une-LSD, ungathunyelwa kwi- endocrinologist okanye kwi-endocrinologist yabantwana . Kubantwana nakubantu abadala, ugqirha unokucebisa iimvavanyo ezifana nezi:

• Uvavanyo lwegazi: Jonga amanqanaba eeenzyme.
• Uvavanyo lwemfuza: Jonga utshintsho kwiimfuza zakho.
• I-biopsy yokuhlikihla: Thatha iqhekeza elincinci lesikhumba uze ujonge utshintsho kwimfuza.
• Uvavanyo lomchamo / uhlalutyo lomchamo: Linganisa ubungakanani bezinto ezisetyenziswa zii-enzymes ngokuqhelekileyo.

Ukongeza koku, kunokwenziwa olunye uvavanyo ukuze kubonwe ukuba amalungu akho omzimba onakele na. Umzekelo:

• Inani elipheleleyo legazi
• Uvavanyo lwamehlo
• Uvavanyo lokuva
• Uvavanyo lwentliziyo: olufana ne -echocardiogram kunye ne-electrocardiogram (EKG) .
• Uvavanyo lokusebenza kwezintso
• Uvavanyo lokusebenza kwesibindi
• Iskeni ye-MRI (i-MRI)
• Ii-X-reyi

Ezi mvavanyo zisetyenziselwa ukufumanisa ukuba sisifo sini kanye kanye kwaye sibi kangakanani.

Ziphathwa njani izifo zokugcina i-lysosomal (LSDs)?

Izifo zokugcina i-Lysosomal (LSDs) zihlala zinyangwa kwiindawo zonyango ezikhethekileyo. Akukho nyango lwezi zifo. Nangona kunjalo, kukho unyango olunokunceda ukulawula iimpawu kunye nokunciphisa umonakalo wamalungu omzimba. Ezi ziquka:

• Unyango Lokutshintshwa Kwe-Enzyme (ERT): Oku kuquka ukunika umzimba i-enzyme eyenziwe ngokwezakhi zofuzo.
• Ukufakelwa kweeStem Cell:Iiseli ze-stem, nokuba zivela kubanikeli okanye kwigazi le-umbilical cord, ziyatyalwa. Ezi seli zinokunceda ekuveliseni i-enzyme engekhoyo. Zikwanceda ekunciphiseni ukudumba kunye nomonakalo wezicubu.
• Unyango Lokunciphisa Iintsholongwane Ezingaphantsi Kweeseli (SRT): Oku kuquka ukunika amayeza anciphisa ubungakanani bezinto (iintsholongwane ezingaphantsi kweeseli) eziqokelelana ngaphakathi kweeseli. Umzekelo, iMiglustat isetyenziselwa iSifo seGaucher. Ezinye ii-SRT okwangoku zikwizilingo zeklinikhi.

Abaphandi basakhangela unyango olutsha lwe-LSD. Ezinye zazo ziquka:

• Unyango lweZiza: Oku kusesekwinqanaba lophando. Kubandakanya ukutshintsha iizaza ezonakeleyo ngeziphilileyo.
• Unyango lwe-Pharmacological Chaperone (PCT): Kule nto, iimolekyuli ezincinci zibopha kwii-enzyme ezonakeleyo kwaye ziphucule ukusebenza kwee-lysosomes.

Ukongeza kwezi ndlela zonyango zithile, ezinye iindlela zonyango zisetyenziselwa ukulawula iimpawu. Umzekelo:

• Izinto ezithintela amasosha omzimba
• Amayeza Angalwiyo Nee-steroidal Alwa Nokuvuvukala (ii-NSAID)
• Iibhrashi zamathambo
• Amanye amayeza axhomekeke kwiimpawu kunye namalungu achaphazelekayo
• Ulungiso lwenyama
• Unyango lokuthetha
• Ngamanye amaxesha utyando

Ngaba umngcipheko wokufumana izifo zokugcina i-lysosomal (LSDs) ungancitshiswa?

Akukho nto sinokuyenza ukunciphisa umngcipheko wokufumana izifo zokugcina i-lysosomal (LSDs) kuba zibangelwa zizinto zemfuza. Nangona kunjalo, ukuqala unyango kwangoko nje ukuba wena okanye umntwana wakho nifunyaniswe ninesifo kunokuphucula kakhulu umgangatho wobomi benu.

Luhlobo luni lwekamva umntu one-LSD anokulilindela?

Ikamva lomntu one-LSD lixhomekeke kwizinto ezininzi:

• Indlela esi sifo esafunyaniswa ngayo ngokukhawuleza.
• Luhlobo luni lonyango oza kulufumana?
• Kuxhomekeke nje ekubeni loluphi uhlobo lwe-LSD.
• Ingaba ii-LSD zingaya kwiindawo ezinezibonelelo zonyango ezikhethekileyo.

Ngokubanzi, umntu onohlobo olunzima lwe-LSD unokuba nexesha elifutshane lokuphila. Nangona kunjalo, kwiimeko ezingenzima kangako ze-LSD, ukuba unyango luqalwe ngaphambi kokuba kubekho umonakalo kumalungu omzimba, banokukwazi ukuphila ixesha elide.

Ndingazinyamekela njani mna nomntwana wam ngelixa ndiphila ne-LSD?

Ukuba wena okanye umntwana wakho unesifo sokugcina i-lysosomal (LSD), kunokuba ngumceli mngeni omkhulu wengqondo. Kungoko ke, kubaluleke kakhulu ukufuna uncedo kwingcali yezengqondo. Banokukufundisa iindlela zokukunceda ujongane nale meko ngokweemvakalelo.

Kwakhona, kuhle ukujoyina amaqela enkxaso. Ngale ndlela ungadibana nabanye abantu abajongene nemingeni efanayo kwaye wabelane ngamava abo.

Ndifanele ndimbone nini ugqirha?

Ukuba iimpawu zakho ziya zisiba mandundu, okanye ukuba awuboni ziphumo zonyango lwakho emva kwexesha elithile, qiniseka ukuba ubona ugqirha wakho. Angacebisa ezinye iindlela zonyango ezinokukunceda.

Umyalezo Wokugqibela Wokuya Ekhaya

Izifo zokugcina iLysosomal, okanye iiLSD, liqela lezifo ezingaqhelekanga, ezibangelwa kukuqokelelana kwezinto ezinobuthi ngaphakathi kweeseli zomzimba wethu. Ezi tyhefu zingonakalisa iiseli kunye namalungu ahlukeneyo omzimba.

Zingaphezulu kwama-70 iintlobo ze-LSD ezichongiweyo. Zibangelwa kukuguquka kwezakhi zofuzo. Nangona iimpawu zahlukile ngokuxhomekeke kuhlobo lwe-LSD, iimpawu eziqhelekileyo ziquka amalungu esisu akhulisiweyo, iimpawu zobuso ezirhabaxa, kunye nokulibaziseka kokukhula.

Ii-LSD zinokufunyanwa ngexesha lokukhulelwa, kwiintsana ezisandul’ ukuzalwa, okanye kubantwana nakubantu abadala ngovavanyo lwegazi, uvavanyo lwemfuza, i-biopsies, kunye novavanyo lomchamo.

Nangona ezi zifo zingenakunyangwa ngokupheleleyo, kukho unyango olunokunceda ukulawula iimpawu kunye nokuphucula umgangatho wobomi. Ke ngoko, kubaluleke kakhulu ukufumanisa isifo kwangethuba kwaye ufumane unyango olufanelekileyo. Ukuba unemibuzo engaphezulu malunga noku, ungathandabuzi ukubuza ugqirha wakho, kulungile?

Izifo zokugcina iLysosomal , iiLSD, izifo zemfuza, ii-enzyme, izifo ze-metabolism, izifo ezingaqhelekanga, impilo yabantwana