Ingabe isisu somntwana wakho sibonakala sikhukhumele kancane? Noma uzizwa sengathi ingane yakho ayikhuli ngesivinini esifanele iminyaka yayo? Ngezinye izikhathi lezi zinto zingaba yinto evamile. Kodwa akuvamile kakhulu, zingabangelwa yisifo esingavamile sofuzo esingakaze sizwe ngaso. Namuhla, sikhuluma ngeSifo sikaNiemann-Pick, esingesinye salezo zifo ezingavamile. Ungesabi uma uzwa leli gama. Ake sixoxe ngalo ngendlela elula ongayiqonda.
Siyini isifo sikaNiemann-Pick?
Kalula nje, isifo sikaNiemann-Pick siyisifo esizuzwa njengefa esibangelwa ukuqongelela okungadingekile kwamafutha, noma amafutha, ngaphakathi kwamaseli emizimba yethu.
Manje ungase uzibuze, "Yini lawa mafutha? Kungani eqoqana?" Ake sikuchaze ngale ndlela.
Cabanga ngeseli ngalinye emzimbeni wethu njengefektri encane. Le fektri idinga amandla ukuze isebenze. Lawo mandla avela ekudleni esikudlayo. Amafutha (ama-lipid) namaprotheni akulokhu kudla ahlukaniswa abe yizicucu ezincane ngaphakathi kwamangqamuzana ethu futhi asetshenziselwa ukukhiqiza amandla. Ngaphezu kwalokho, lawa mafutha (isibonelo, i-cholesterol namafutha) nawo ayadingeka emisebenzini eminingi ebalulekile, njengokwakha izindonga zamangqamuzana ethu nokukhiqiza ama-hormone.
Ngokuvamile, emzimbeni womuntu ophilile, uma lawa mafutha esetshenzisiwe, noma uma emaningi kakhulu, kuba nama-enzyme akhethekile okuwaphula nokuwasusa emzimbeni. Njengohlelo olususa imfucuza efektri uma isiqedile ukusebenza.
Kodwa kumuntu onesifo i-Niemann-Pick, kukhona iphutha lofuzo ekukhiqizweni kwama-enzyme noma amaprotheni aphula amafutha engiwashilo. Ngenxa yalokho, amafutha angasetshenziswa, angadingekile aqala ukuqongelela ngaphakathi kwamaseli. Kufana nenqwaba kadoti efektri enesistimu yokulahla imfucuza ephukile.
Ngale ndlela, amafutha awaqongelelani endaweni eyodwa kuphela.
- Ubuchopho
- Isibindi
- Ubende
- Amaphaphu
- Umkantsha
Lokhu kwakheka ngaphakathi kwamaseli ezitho ezibalulekile njengenhliziyo. Ngokuhamba kwesikhathi, lawa mafutha ayakhula futhi avimbele lezo zitho ukuthi zingasebenzi kahle. Yilapho izimpawu ziqala khona ukubonakala.
Yiziphi izimpawu eziyinhloko zalesi sifo?
Izimpawu zingase zihluke kuye ngesitho lapho lawa mafutha efakwe khona. Izimpawu nazo ziyahlukahluka kuye ngohlobo lwesifo. Kodwa-ke, kunezimpawu eziningana ezivamile.
Izimpawu Zezinzwa
Lezi zimpawu zivela lapho amafutha efakwa emangqamuzaneni obuchopho.
- I-Ataxia: Lesi yisimo lapho imisipha yomzimba ingakwazi ukulawula ukunyakaza ngamabomu, njengokuhamba noma ukufinyelela okuthile. Umzimba uzizwa ungazinzile futhi ungazinzile.
- Ubuthakathaka bemisipha:Umzimba uzizwa ungenampilo, futhi imisipha iyancipha.
- Ukuvaleka: Ngezinye izikhathi imisipha iyaqina futhi inganyakaza. Ukunyakaza kuba nzima kakhulu.
- Ubunzima bokukhuluma: Ukukhuluma amagama angacacile, ukungakwazi ukukhuluma kahle.
- Ukwehla kancane kancane kokusebenza kobuchopho: Izinto ezifana nenkumbulo nekhono lokufunda zingase zinciphe ngokuhamba kwesikhathi.
Izimpawu ezihlobene nezinye izingxenye zomzimba
- Ukuvuvukala kwesibindi kanye nobende: Lokhu kuvame ukuba ngesinye sezibonakaliso zokuqala ezibonakala. Lezi zitho ezimbili ziyakhula ngenxa yokufakwa kwamafutha emzimbeni. Lokhu kubangela ukuthi isisu sengane siphume phambili futhi sibonakale sivuvukile.
- Ubunzima bokugwinya nokuphuza: Lesi simo sithinta kakhulu izingane ezincane.
- Izinguquko ekuhambeni kwamehlo: Kungase kube nobunzima bokubheka phezulu naphansi.
- I-cornea iyashintsha: I-cornea ingase ibe namafu.
- Ibala elibomvu njengetsheri: Lesi yisibonakaliso esiqondile kakhulu. Uma udokotela ehlola iso, angase abone ibala elibomvu elifana netsheri phakathi kwe-retina. Lokhu akwenzeki kuwo wonke umuntu, kodwa ezinye iziguli ziyenzeka.
Into ebalulekile ukuthi lezi zimpawu azibonakali ngokuzumayo. Zikhula kancane kancane. Ngakho-ke, uma unokungabaza, kubaluleke kakhulu ukubona udokotela ofanelekayo ngokushesha okukhulu bese ucela iseluleko.
Kunezinhlobo ezintathu eziyinhloko zalesi sifo.
Isifo sikaNiemann-Pick asifani sonke. Kunezinhlobo ezintathu eziyinhloko (nezinye eziningi kwezinye izinhlobo). Uhlobo ngalunye lunezimbangela ezahlukene, izimpawu, kanye nendlela lesi sifo esiqhubeka ngayo. Ake sisebenzise ithebula ukuze lisisize siqonde umehluko.
| Uhlobo lwesifo | Izici eziyinhloko kanye nemvelo | Isizathu |
|---|---|---|
| Uhlobo A |
| Umsebenzi onganele we-enzyme i-sphingomyelinase. Le enzyme iphula i-lipid sphingomyelin. |
| Uhlobo B | Imbangela ifana nohlobo A. Okusho ukuthi, umsebenzi we-enzyme ye-sphingomyelinase uyancipha. Kodwa-ke, kulokhu, uma kuqhathaniswa nohlobo A, umsebenzi othile we-enzyme usasele. | |
| Uhlobo C | Imbangela akuyona i-enzyme. Kuwukuntuleka kwenye yamaprotheni amabili abizwa ngokuthi i-NPC1 noma i-NPC2. Lawa maprotheni athutha i-cholesterol namanye amafutha ngaphakathi kwamaseli. |
Inothi elincane mayelana nohlobo D
Esikhathini esidlule, iziguli ezinesifo sohlobo C, ezivela kukhokho oyedwa esifundeni saseNova Scotia eCanada, zazibizwa ngokuthi uhlobo D. Kodwa manje sesiyazi ukuthi futhi kuyisimo esingokohlobo C, futhi sibangelwa yisici esithile ku-NPC1 gene.
Ingabe ikhona indlela yokwelapha lokhu?
Ukwazi impendulo yalo mbuzo kubaluleke kakhulu kuwe nakubo bonke abantu. Uma ngikhuluma iqiniso, kuze kube manje, alikho ikhambi lesifo iNiemann-Pick.
Ngakho-ke odokotela benzani?
Ukwelashwa kwamanje kuyindlela yokwelapha esekelayo . Okusho ukuthi, nakuba lesi sifo singelapheki, silawula izimpawu, sinikeze isiguli induduzo enkulu ngangokunokwenzeka, futhi sisize ukwenza impilo ibe lula.
- Ukuvikelwa ezifweni: Lezi ziguli, ikakhulukazi izingane, zivame ukutheleleka njalo. Ngakho-ke, kubaluleke kakhulu ukuzivikela ezifweni ezifana ne-pneumonia.
- Ukudla Okunomsoco: Izingane ezinenkinga yokugwinya zingadinga ukuphakelwa ngepayipi lokuphakelwa.
- Ukwelapha nge-Physiotherapy: Ukuzivocavoca kanye nokwelashwa ngokwelashwa ngomzimba kungasiza ekulawuleni ukuqina kwemisipha (ukuqaqamba) nokugcina amalunga esebenza kahle.
- Ukwelashwa kobunzima bokuphefumula: Uma amaphaphu ethintekile, njengasezigulini zohlobo B, kungadingeka umoya-mpilo owengeziwe.
Ukwelashwa kokuhlola
- Ukufakelwa umnkantsha wethambo: Lokhu kuye kwazanywa ezigulini ezimbalwa ezinesifo sohlobo B, kodwa akukabi ukwelashwa okujwayelekile okwamanje.
- Ukwelashwa kokufaka esikhundleni sama-enzyme kanye nokwelashwa ngezakhi zofuzo: Ososayensi banethemba lokuthi lokhu kwelashwa kuzoba wusizo oluthile ezigulini zohlobo B esikhathini esizayo, kodwa lokhu kusesesigabeni socwaningo.
Abantu abaningi bacabanga ukuthi ngokulawula ukudla kwabo nokunciphisa ukudla okunamafutha, bangamisa ukunqwabelana kwalawa mafutha. Kodwa iqiniso liwukuthi, ukushintsha ukudla kwabo akukwazi ukuvimba ukunqwabelana kwamafutha ngaphakathi kwamaseli. Ngoba inkinga ayikho emafutheni adliwa ngaphandle, kodwa enqubweni eyenzeka ngaphakathi kwamaseli ngenxa yesici sofuzo emzimbeni.
Ungathini ngekusasa? (Isibikezelo)
Lesi yisihloko esibucayi kakhulu okufanele sixoxwe ngaso. Ikusasa lesiguli, noma ukubikezela, kuncike ngokuphelele ohlotsheni lwesifo.
- Uhlobo A: Njengoba kushiwo ngaphambili, lolu uhlobo olubi kakhulu. Izingane ezinalesi simo zivame ukufa zisencane, zingakafiki eminyakeni engu-2-3 ubudala, ngenxa yokutheleleka noma ukungasebenzi kahle kwesimiso sezinzwa.
- Uhlobo B: Lezi ziguli zingaphila impilo ende. Ezinye ziphila zize zibe ngabantu abadala. Kodwa-ke, ngenxa yokulimala kwamaphaphu, zingadinga ukubhekwa kwezokwelapha impilo yazo yonke futhi ngezinye izikhathi ukwesekwa komoya-mpilo.
- Uhlobo C:Kunzima kakhulu ukubikezela ikusasa lalesi sifo, ngoba iminyaka lapho izimpawu zivela khona kanye nendlela lesi sifo esiqhubeka ngayo iyahlukahluka kakhulu kuye ngomuntu nomuntu. Ezinye izingane ziyafa zisencane, kanti lezo ezinezimpawu zokuqala sekwephuzile kanye nezimo ezingembi kangako zingaphila zize zibe ngabantu abadala.
Umlayezo Wokuya Nawe Ekhaya
- Isifo i-Niemann-Pick yisifo esingavamile kakhulu, esizuzwe njengefa esibangela ukunqwabelana kwamafutha (ama-lipid) ngaphakathi kwamaseli omzimba.
- Kunezinhlobo ezintathu eziyinhloko zalokhu (A, B, kanye no-C). Uhlobo A lunzima kakhulu. Uhlobo B luthinta kakhulu amaphaphu nesibindi, kanti uhlobo C luthinta kakhulu uhlelo lwezinzwa.
- Izimpawu ezinjengokuvuvukala kwesisu (isibindi/ubende obandayo), ubunzima bokuhamba, kanye nokukhula okuphazamisekile kungabonakala ekuqaleni.
- Akukho ukwelashwa kwalesi sifo okwamanje. Okwenziwayo nje ukulawula izimpawu nokunikeza isiguli impumuzo.
- Uma usola ukuthi ingane yakho inanoma yiziphi zalezi zimpawu, ungesabi futhi ubone udokotela wezingane oqeqeshiwe noma omunye udokotela ngokushesha okukhulu.
- Ucwaningo ngezifo ezingavamile ezifana nalezi lwenzeka emhlabeni wonke. Masibe nethemba lokuthi kuzovela ukwelashwa okungcono esikhathini esizayo.
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