Ngezinye izikhathi kunzima ngathi ukuqonda ezinye izifo ezifika kumuntu emndenini wethu, ikakhulukazi ingane encane. Uma siya kudokotela, asijwayelene nezinye zezifo asitshela zona. Ngakho-ke, namuhla sikhuluma ngeqembu lezifo abantu abaningi abangakaze bezwe ngazo, kodwa kubaluleke kakhulu ukuzazi. Lezi zibizwa ngokuthi i-Lysosomal Storage Disorders. Nakuba leli gama lingase libonakale liyinkimbinkimbi uma ulizwa, masiliqonde kalula.
Ziyini ngempela izifo zokugcina i-lysosomal (LSD)?
Kulungile, ake sikubeke ngale ndlela. Imizimba yethu yakhiwe yizigidigidi zamaseli amancane. Ngaphakathi kwalawa maseli kukhona ingxenye ekhethekile ebizwa ngokuthi 'i-lysosome.' Cabanga ngayo 'njengesikhungo sokuvuselela udoti' ngaphakathi kweseli. Umsebenzi wayo oyinhloko ukuphula, ukugaya, nokuvuselela izinto iseli elingazidingi, njengeprotheni, ama-carbohydrate, nezingxenye zamaseli amadala.
Ukuze yenze lo msebenzi obalulekile, i-lysosome ineqembu elikhethekile labasizi. Sibabiza ngokuthi 'ama-enzyme'. Lezi yizinhlobo ezikhethekile zamaprotheni. Njengesikele, la ma-enzyme asiza ekuqhekekeni nasekuqhekekeni kwezinto ezinkulu.
Manje cabanga ngakho, kwenzekani uma ngesizathu esithile enye yalezi enzyme ingakhiqizwa kahle emizimbeni yethu? Khona-ke umsebenzi waleyo 'ndawo yokuvuselela kabusha' awusebenzi kahle. Lezo zinto ezidinga ukuphulwa nokugaywa, okungukuthi, izinto ezifana namaprotheni namafutha, ziqala ukuqongelela ngaphakathi kwamaseli. Njengendawo yokulahla udoti. Ngokuhamba kwesikhathi, lezi zinto eziqongelelwe ziba yingozi kumaseli, ziqale ukubhubhisa amaseli, futhi ngalokho, zonakalisa izitho ezahlukahlukene emzimbeni wethu. Leso yisimo esisibiza ngokuthi i-lysosomal storage disorder.
Lezi akuzona izifo ezivamile. Kunezifo ezingaphezu kuka-50 ezaziwa ngaleli gama. Esifweni ngasinye, kulahleka i-enzyme ehlukile.
Yiziphi izinhlobo eziyinhloko zaleli qembu lezifo?
Kunezinhlobo eziningi zezifo ngaphansi kwalesi sigaba. Ngayinye yazo ibangelwa ukuntuleka kwe-enzyme ethile. Ake sibheke ezimbalwa zezinhlobo ezivame kakhulu. Nakuba amagama alezi angase abonakale edida kancane, kulula ukuwaqonda uma usuwazi ukuthi ayini.
| Igama Lesifo | Ithinteka kanjani kakhulu? |
|---|---|
| Isifo sikaFabry | Uhlobo oluthile lwamafutha luqoqana emaseli futhi lonakalise isikhumba, izinso, inhliziyo kanye nesimiso sezinzwa. |
| Isifo seGaucher | Uhlobo olukhethekile lwamafutha luqongelela espleen, esibindini, kanye nasemongweni wamathambo. |
| Isifo sikaPompe | Uhlobo lukashukela olubizwa ngokuthi i-glycogen luqongelela emaseli emisipha, lwenze imisipha ibe buthaka. Lungathinta nenhliziyo. |
| Isifo sikaKrabbe | Kulimaza isembozo esivikelayo (i-myelin) esizungeze amangqamuzana ezinzwa. Lokhu kuthinta kakhulu uhlelo lwezinzwa. |
| Isifo sikaNiemann-Pick | Amafutha kanye ne-cholesterol kuqongelela emangqamuzaneni esibindi, ubende kanye nobuchopho. |
| Isifo sikaTay-Sachs | Uhlobo oluthile lwamafutha luqoqana emangqamuzaneni ezinzwa zobuchopho, lubhubhise amangqamuzana ezinzwa. |
Kungani lezi zifo zenzeka?
Eziningi zalezi zifo ziyizifo zofuzo. Okusho ukuthi, zizuzwe njengefa kubazali ezinganeni. Yile ndlela okwenzeka ngayo.
Ake sithi bobabili abazali bane-'ikhophi ebuthakathaka' yesakhi sofuzo esikhiqiza i-enzyme ethile. Kodwa ababonisi izimpawu ngoba nabo bane-'ikhophi enempilo' yaleso sakhi sofuzo. Sibabiza laba bantu ngokuthi 'abathwali'.
Kodwa-ke, uma ingane izuza leli khophi elibuthakathaka le-gene kumama nakubaba, khona-ke umzimba wengane ngeke ukhiqize i-enzyme efanele. Yilapho ingane izoba nesifo sokugcina i-lysosomal esifanele.
Lezi yizifo ezingavamile kakhulu. Kodwa-ke, ezinye izifo zivame kakhulu emaqenjini athile ezinhlanga. Isibonelo, izifo zikaGaucher noTay-Sachs zivame kakhulu kubantu bozalo lwamaJuda aseYurophu.
Ziyini izimpawu?
Izimpawu zincike ekutheni iyiphi i-enzyme entulekayo, ngakho-ke izinto ezingafuneki zigcinwa kuziphi izitho zomzimba. Ngakho-ke, izimpawu zesifo ngasinye ziyahluka.
- Izimpawu zesifo sikaFabry zifaka phakathi ukuvuvukala, ubuhlungu, ukungazweli, amabala abomvu esikhumbeni, ukuncipha kokujuluka, kanye nokulahlekelwa ukuzwa ezithweni.
- Isifo se-Gaucher singabangela ukwanda kwe-spleen nesibindi, ukuphuka kalula, ubuhlungu bamathambo, ukukhathala okukhulu, kanye ne-anemia (inani eliphansi legazi).
- Isifo se-Pompe sibangela izimpawu ezifana nobuthakathaka obukhulu bemisipha, ubunzima bokuphefumula, ukukhula okulinganiselwe ezinganeni, kanye nenhliziyo ekhuphukile.
- Izingane ezinesifo iTay-Sachs zikhula kahle ezinyangeni ezimbalwa zokuqala, kodwa kamuva zilahlekelwa ukulawula imisipha. Zingase zilahlekelwe ukubona nokuzwa, futhi zibe nokuxhuzula.
Uthola kanjani ukuthi unalezi zifo?
Ukuxilonga lezi zifo kuyinqubo eyinkimbinkimbi, kodwa ukutholakala kusenesikhathi kubaluleke kakhulu.
1. Ukuhlolwa Kwabathwali: Kuye ngomlando womndeni wakho, udokotela wakho angase asikisele ukuhlolwa kofuzo ngaphambi komshado noma ngesikhathi sokukhulelwa. Lokhu kungasiza ekunqumeni ukuthi wena noma umlingani wakho ningabathwali balezi zifo.
2. Ukuhlolwa ngesikhathi sokukhulelwa: Uma kutholakala ukukhubazeka ngesikhathi sokuhlolwa kwe-ultrasound ngesikhathi sokukhulelwa, udokotela angase asikisele ukuhlola umbungu.
- I-Amniocentesis: Ukuhlolwa kwezakhi zofuzo ngokuthatha isampula encane yoketshezi lwe-amniotic oluzungeze isibeletho sikamama.
- Ukusampula Kwe-Chorionic Villus (CVS): Kuthathwa isampula encane yamaseli ku-placenta bese ihlolwa.
3. Uma ingane inezimpawu: Isampula yegazi enganeni ingahlolwa ukuze kuhlolwe amazinga e-enzyme. Ngaphezu kwalokho, kungenziwa ezinye izivivinyo ezifana ne-MRI scan, i-biopsy, noma ukuhlolwa komchamo.
Ukutholwa kwalezi zifo kusenesikhathi kubaluleke kakhulu ngoba ukwelashwa kusenesikhathi kuqalwa, kulapho umonakalo omkhulu obangelwa yilesi sifo ungalawulwa khona.
Yiziphi izindlela zokwelapha lokhu?
Akukho ukwelashwa kwalezi zifo okwamanje. Kodwa-ke, kunezindlela eziningana zokwelapha ezingalawula izimpawu futhi zandise isikhathi sokuphila kanye nekhwalithi yokuphila.
- Ukwelashwa Kokufaka I-Enzyme Replacement Therapy (ERT): Lokhu kuhilela ukunikeza i-enzyme entula umzimba ngqo emzimbeni ngemithambo yegazi (IV).
- Ukwelashwa Kokunciphisa I-Substrate (SRT): Lokhu kuhilela ukunikeza imithi enciphisa ukukhiqizwa kwezinto ezingafuneki eziqongelela ngaphakathi kwamaseli.
- Ukufakelwa Kweseli Lesiqu:Amaseli e-stem athathwe kumuntu ophilile afakwa esigulini, esiza umzimba ukuthi ukhiqize i-enzyme oyidingayo.
- Ukuphathwa kwezimpawu: Izimpawu zilawulwa ngokwelashwa okufana nemithi yobuhlungu, ukwelashwa ngokomzimba, ukuhlinzwa, futhi kwezinye izimo, i-dialysis.
Ngaphezu kwalokho, ucwaningo luyaqhubeka mayelana nokwelashwa kwesimanje njengokwelashwa ngezakhi zofuzo, okungase kunikeze ikhambi elihlala njalo esikhathini esizayo.
Ake sifunde ngokuphila nalezi zifo.
Lezi yizifo ezihlala isikhathi eside, ngakho-ke kanye nokwelashwa, kubaluleke kakhulu ukwenza izinguquko endleleni yokuphila.
- Ukudla okuhle: Khuluma nodokotela wakho kanye nochwepheshe wezokudla ukuze udale ukudla okulinganiselayo okufanelana nawe.
- Nciphisa ingozi yakho: Lezi zifo zingandisa ingozi yakho yokuthola ezinye izifo. Isibonelo, kubaluleke kakhulu ukuthi umuntu onesifo sikaFabry alawule amazinga akhe e-cholesterol.
- Hlala umatasa: Buza udokotela wakho mayelana nokuzivocavoca okuphephile okufanele umzimba wakho.
- Impilo yengqondo: Ukuphila nesifo esifana nalesi isikhathi eside kungaba yinselele engqondweni. Funa usizo kudokotela wengqondo noma umeluleki. Futhi, ukujoyina amaqembu okusekelana nabantu abanezifo ezifanayo kuwusizo olukhulu.
Umlayezo Wokuya Nawe Ekhaya
- Izifo zokugcina i-Lysosomal ziyiqembu lezifo ezingavamile zofuzo ezibangelwa ukuntuleka kwe-enzyme emzimbeni.
- Lokhu kuvame ukutholwa njengefa yizingane ezivela kubazali abathwala lesi sifo abangabonisi zimpawu.
- Izimpawu ziyahlukahluka kakhulu kuye ngesifo, ngakho-ke khuluma nodokotela wakho nganoma yiziphi izimpawu ezingavamile nezihlala isikhathi eside.
- Ukutholwa kusenesikhathi kanye nokwelashwa kunganciphisa umonakalo obangelwa yilesi sifo.
- Nakuba kungekho ikhambi elihlala njalo lalokhu okwamanje, kunezindlela zokwelapha ezingasiza ekulawuleni izimpawu futhi ziphile impilo engcono.
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