Ngaba kukho umntu kusapho lwakho onesifo esingaqhelekanga semfuza? Funda ngeLysosomal Storage Disorders

Ngamanye amaxesha kunzima kuthi ukuqonda ezinye izifo ezifikela umntu kusapho lwethu, ingakumbi umntwana omncinci. Xa sisiya kugqirha, asizazi ezinye zezifo asixelela zona. Ngoko ke, namhlanje sithetha ngeqela lezifo abantu abaninzi abangazange beve ngazo, kodwa kubaluleke kakhulu ukuzazi. Ezi zibizwa ngokuba yiLysosomal Storage Disorders. Nangona eli gama lisenokubonakala linzima kancinci xa usiva, masiliqonde ngokulula.

Zithini kanye kanye izifo zokugcina i-lysosomal (LSD)?

Kulungile, masiyibeke ngolu hlobo. Imizimba yethu yenziwe ziibhiliyoni zeeseli ezincinci. Ngaphakathi kwezi seli kukho inxalenye ekhethekileyo ebizwa ngokuba yi-'lysosome.' Cinga ngayo 'njengeziko lokuphinda usebenzise inkunkuma' ngaphakathi kwiseli. Umsebenzi wayo ophambili kukwaphula, ukugaya, kunye nokuphinda usebenzise izinto ezingafunekiyo kwiseli, ezifana neeproteni, iicarbohydrate, kunye namalungu amadala eseli.

Ukuze yenze lo msebenzi ubalulekileyo, i-lysosome ineqela elikhethekileyo labancedisi. Sizibiza ngokuba 'zii-enzyme'. Ezi ziintlobo ezikhethekileyo zeeproteni. Njengesikere, ezi enzymes zinceda ekuqhekekeni nasekuqhekekeni kwezinto ezinkulu.

Khawucinge ngoku, kwenzeka ntoni ukuba ngesizathu esithile enye yezi enzymes ayiveliswanga kakuhle emzimbeni wethu? Emva koko umsebenzi welo 'ziko lokurisayikilisha' awusebenzi kakuhle. Ezo zinto kufuneka ziqhekezwe kwaye zigaywe, oko kukuthi, izinto ezifana neeproteni namafutha, ziqala ukuqokelelana ngaphakathi kweeseli. Njengendawo yokulahla inkunkuma. Ekuhambeni kwexesha, ezi zinto ziqokelelweyo ziba yityhefu kwiiseli, ziqale ukutshabalalisa iiseli, kwaye ngaloo ndlela, zonakalisa amalungu ahlukeneyo emzimbeni wethu. Leyo yimeko esiyibiza ngokuba yi-lysosomal storage disorder.

Ziziphi iintlobo eziphambili zeli qela lezifo?

Kukho iintlobo ezininzi zezifo phantsi kolu didi. Nganye yazo ibangelwa kukungabikho kwe-enzyme ethile. Makhe sijonge ezimbalwa zezona ntlobo zixhaphakileyo. Nangona amagama ala magama esenokubonakala edida kancinci, kulula ukuwaqonda xa sele uzazi ukuba zeziphi.

Kutheni ezi zifo zenzeka?

Uninzi lwezi zifo zizifo zemfuza. Oko kukuthi, zifunyanwa ngabazali kubantwana. Oku kwenzeka ngale ndlela.

Khawucinge ukuba bobabini abazali bane-'ikopi ebuthathaka' yejini evelisa i-enzyme ethile. Kodwa ababonisi zimpawu kuba nabo bane-'ikopi ephilileyo' yejini. Aba bantu sibabiza ngokuba 'ngabathwali'.

Nangona kunjalo, ukuba umntwana uzuze le kopi ibuthathaka yejini kumama nakutata, umzimba womntwana awuyi kuvelisa i-enzyme efanelekileyo. Kulapho ke umntwana uya kuba nesifo sokugcina i-lysosomal esifanelekileyo.

Ezi zizifo ezingaqhelekanga kakhulu. Nangona kunjalo, ezinye izifo zixhaphake kakhulu kumaqela athile eentlanga. Umzekelo, izifo zikaGaucher noTay-Sachs zixhaphake kakhulu kubantu abazalwa ngamaJuda aseYurophu.

Zithini iimpawu?

Iimpawu zixhomekeke ekubeni zeziphi ii-enzyme ezinqongopheleyo, kwaye ke ngoko zixhomekeke ekubeni zeziphi izitho zomzimba ezigcinwe kuzo izinto ezingafunekiyo. Ke ngoko, iimpawu zesifo ngasinye zahlukile.

• Iimpawu zesifo sikaFabry ziquka ukudumba, iintlungu, ukuba ndindisholo, amabala abomvu eluswini, ukuncipha kokubila, kunye nokulahlekelwa kukuva ezinyaweni.
• Isifo seGaucher sinokubangela ukwanda kwepleen kunye nesibindi, ukukrweleka lula, iintlungu zamathambo, ukudinwa kakhulu, kunye ne-anemia (umlinganiselo wegazi ophantsi).
• Isifo sePompe sibangela iimpawu ezinje ngobuthathaka obukhulu bemisipha, ubunzima bokuphefumla, ukukhula okungalindelekanga kwiintsana, kunye nokukhula kwentliziyo.
• Iintsana ezinesifo sikaTay-Sachs zikhula kakuhle kwiinyanga ezimbalwa zokuqala, kodwa kamva zilahlekelwa kukulawula izihlunu. Zisenokulahlekelwa kukubona nokuva, kwaye zibe nokuxhuzula.

Ufumanisa njani ukuba unazo ezi zifo?

Ukuchonga ezi zifo yinkqubo enzima kancinci, kodwa ukubonwa kwangethuba kubaluleke kakhulu.

1. Ukuhlolwa Komthwali Wesifo: Ngokuxhomekeke kwimbali yosapho lwakho, ugqirha wakho unokucebisa uvavanyo lwemfuza ngaphambi komtshato okanye ngexesha lokukhulelwa. Oku kunokunceda ekuqinisekiseni ukuba wena okanye iqabane lakho ningabathwali bezi zifo.

2. Uvavanyo ngexesha lokukhulelwa: Ukuba kufunyenwe into engaqhelekanga ngexesha lokuhlolwa kwe-ultrasound ngexesha lokukhulelwa, ugqirha unokucebisa ukuba kuvavanywe umntwana ongekazalwa.

• I-Amniocentesis: Uvavanyo lwemfuza ngokuthatha isampuli encinci yolwelo lwe-amniotic olujikeleze isibeleko sikamama.
• Isampuli yeChorionic Villus (CVS): Kuthathwa isampulu encinci yeeseli kwi-placenta ize ivavanywe.

3. Ukuba umntwana uneempawu: Isampuli yegazi lomntwana ingavavanywa ukujonga amanqanaba eeenzyme. Ukongeza, ezinye iimvavanyo ezifana ne-MRI scan, i-biopsy, okanye uvavanyo lomchamo zingenziwa.

Zithini iindlela zonyango zoku?

Akukho nyango lwale zifo okwangoku. Nangona kunjalo, kukho iindlela ezahlukeneyo zonyango ezinokulawula iimpawu kwaye zonyuse ixesha lokuphila kunye nomgangatho wobomi.

• Unyango Lokutshintshwa Kwe-Enzyme (ERT): Oku kuquka ukunika i-enzyme esweleyo emzimbeni ngqo emzimbeni ngemithambo yegazi (IV).
• Unyango Lokunciphisa I-Substrate (SRT): Oku kuquka ukunika amayeza anciphisa ukuveliswa kwezinto ezingafunekiyo eziqokelelana ngaphakathi kwiiseli.
• Ukufakelwa kweeseli zeStem:Iiseli ze-stem ezithathwe kumntu ophilileyo zifakwa kwisigulana, zinceda umzimba uvelise i-enzyme oyifunayo.
• Ulawulo lweempawu: Iimpawu zilawulwa ngonyango olufana namayeza eentlungu, unyango lomzimba, utyando, kwaye kwezinye iimeko, i-dialysis.

Ukongeza, uphando luyaqhubeka malunga nonyango lwanamhlanje olufana nonyango lwezakhi zofuzo, olunokubonelela ngesisombululo esihlala sihleli kwixesha elizayo.

Masifunde ngokuphila nezi zifo.

Ezi zizifo ezihlala ixesha elide, ngoko ke kunye nonyango, kubaluleke kakhulu ukwenza utshintsho kwindlela ophila ngayo.

• Ukutya okulungileyo: Thetha nogqirha wakho kunye nengcali yokutya ukuze udale ukutya okunempilo okufanela wena.
• Nciphisa umngcipheko wakho: Ezi zifo zinokunyusa umngcipheko wakho wokufumana ezinye izifo. Umzekelo, kubaluleke kakhulu ukuba umntu onesifo sikaFabry alawule amanqanaba e-cholesterol yakhe.
• Hlala ukhuthele: Buza ugqirha wakho malunga nokuzilolonga okukhuselekileyo okufanelekileyo emzimbeni wakho.
• Impilo yengqondo: Ukuphila nesigulo esifana nesi ixesha elide kunokuba nzima engqondweni. Funa uncedo kwingcali yezengqondo okanye kumcebisi. Kwakhona, ukujoyina amaqela enkxaso nabantu abanezifo ezifanayo luncedo olukhulu.