Isifo se-Niemann-Pick yisifo esingavamile sezokwelapha zofuzo. Kunezinhlobonhlobo ezine zalesi sifo, ezihlukaniswe njengohlobo A, uhlobo B, uhlobo C, nohlobo D. Isifo se-Niemann-Pick sibangela izinkinga ezihlukahlukene zezokwelapha, futhi kuvame ukuthuthuka ngokushesha. Izimpawu nemiphumela yazo zonke izinhlobo ze-Niemann-Pick isifo esivela ekwakheni kwe-sphingomyelin, uhlobo lwamanoni, emzimbeni.
Ngeshwa, akekho ukwelashwa okucacile kwesifo seNiemann-Pick, futhi abantu abanesifo bahlangabezana nokugula okujulile nokufa ngesikhathi esencane. Uma wena noma ingane yakho ithola ukuthi unesifo se-Niemann-Pick, ungazuza ngokwazi okuningi ngesimo ngangokunokwenzeka.
Izimbangela
Isizathu se-Niemann-Pick isifo siyinkimbinkimbi. Abantu abanalo lesi sifo badla ifa elilodwa leziphene eziningana, okuholela ekutheni kube nesakhi se-sphingomyelin, uhlobo lwamafutha. Njengoba i-sphingomyelin ikhiqiza amangqamuzana esibindi, i-spleen, amathambo, noma isimiso sezinzwa, lezi zifunda zomzimba azikwazi ukusebenza ngendlela efanele, okuholela kuzo zonke izimpawu eziwuphawu lwesifo.
Izinhlobo
Izinhlobo ezahlukene zesifo seNiemann-Pick zihlukile komunye nomunye ngezindlela eziningana.
- Zibangelwa izifo ezihlukahlukene zofuzo.
- Zizobhekana nezinqubo ezihlukahlukene zezinto eziphilayo ezibangela ukuba i-sphingomyelin yakha.
- I-sphingomyelin excess ithinta izingxenye ezahlukene zomzimba.
- Zonke ziqala ngeminyaka ehlukile.
- Umphumela wohlobo ngalunye awufani.
Okuhlangenwe nakho kwabo bonke ukuthi yizo zonke iziphambeko zofuzo eziholela ekusenikeni okweqile.
I-Niemann-Pick Uhlobo A
Thayipha i-A iqala ukuveza izimpawu ngesikhathi sokusana futhi kubhekwa njengesimo esibi kunazo zonke se-Niemann-Pick.
Kungenye yezinto ezihlukahlukene ezihilela isimiso sezinzwa .
- Izimpawu: Izimpawu ziqala phakathi nezinyanga eziyisithupha futhi zihlanganisa: ukukhula komzimba okuncane, imisipha ebuthakathaka kanye nezwi elibuthakathaka, ukukhathazeka kokudla, izinkinga zokuphefumula nokuphuza noma ukubambezela ukuthuthukiswa kwamakhono okucabanga njengokuhlala phansi nokukhuluma. Ngokuvamile, izinsana ezinezinhlobo ze-Niemann-Pick zikhula ngendlela evamile noma zivame ukuhlala ezinyangeni ezimbalwa zokuqala zokuphila bese ziqala ukuba nezimpawu.
- Ukuxilongwa: Uma ingane yakho ingakhulumi ngendlela evamile, kungaba khona izimbangela eziningi. Izingane eziningi ezinezinhlobo ze-Niemann-Pick zine-spleen enkulu nesibindi esikhulu, amazinga aphezulu e-cholesterol, kanye nebala elibomvu elibonakala elibomvu elibonakala ekuhlolweni kweso. Lezi zimpawu aziqinisekisi ukuxilongwa, kodwa. Uma udokotela wakho ecabanga ukuthi uhlobo lwe-Niemann-Pick uhlobo A lubangelwa izimpawu zomntanakho, kunezivivinyo ezimbalwa eziqinisekisa lesi sifo. I-Acid Sphingomyelinase kulindeleke ukuba yehle, futhi leli zinga lingalinganiswa kumaseli amhlophe egazi. Kukhona futhi ukuhlolwa kofuzo okungabonakalisa isakhi ngendlela engavamile.
- Ukwelashwa: Uma ingane yakho ithola ukuthi i-Niemann-Pick hlobo A, ayikho imithi engaphezu kokusekelwa nokududuzwa. Ngeshwa, izingane ezinalesi sifo azilindeleke ukuba ziphile ngaphandle kweminyaka engama-3 noma 4.
- Isizathu: I- Niemann-Pick uhlobo A kubangelwa ukungalungi kwegesi okuthiwa i-SMPD1 geni. Leli gciwane likhombise ukukhiqizwa kwe-sphingomyelinase, i-enzyme ephuka phansi i-sphingomyelin, amafutha ajwayelekile ngaphakathi kwamaseli omzimba. Uma i-sphingomyelin ingenakuphulwa ngendlela efanele, amangqamuzana emzimbeni aqoqa, futhi ukuba khona kwaleli fatwe ngokweqile kuvimbela izitho ukuba zingasebenzi ngokujwayelekile.
- Izakhi zofuzo: Lesi sifo siyi-autosomal ngokweqile, okusho ukuthi ingane kufanele izuze isakhi kubazali bobabili ukuze isifo sikhule. Abantu base-Ashkenazi abaJuda banamathuba aphezulu okuzuzisa lesi simo.
Uhlobo lwe-Niemann-Pick B
Uhlobo B lubhekwa njengesimo esinamandla se-Niemann-Pick isifo kunhlobo A. Kubangelwa uhlobo olufanayo lokungajwayelekile, okwenza kube nokuntuleka kwe-sphingomyelinase. Umehluko omkhulu phakathi kohlobo A nohlobo B wukuthi abantu abanomhlobo B bayakwazi ukukhiqiza kakhulu isiphingomyelinase kakhulu kunabantu abanomhlobo A. Lo mthelela uholela ekungenikeni okungaphansi kwe-sphingomyelin, okungenzeka okungenani kube yingxenye yobudala obudala okuyinto uhlobo B isifo kuqala, imiphumela engcono, nokuphila eside. Akuchazi ngokuphelele ukuthi kungani uhlobo A, ngenkathi ukubandakanyeka kwezinzwa kungavamile kuhlobo B.
- Izimpawu : Izimpawu ziqala ngesikhathi sezikhulile futhi zingabandakanya isibindi esikhulu, ubhedu obuningi, ubunzima bokuphefumula, nokuphuma kwegazi. Abantu asebekhulile ngokuvamile banomphumela ongcono futhi basinda isikhathi eside kunabantu abadala abasha abanalesi sifo okuhlukile.
- Ukuxilongwa : Njengehlobo A, i-Acid Sphingomyelinase inciphisa emangqamuzana egazi amhlophe, futhi ukuhlolwa kofuzo lwe-SMPD1 kungaqinisekisa lesi sifo. Amazinga wegazi we-cholesterol ne-triglycerides angase aphakanyiswe. Abanye abantu abane-Niemann-Pick uhlobo B bangase babe ne-cherry spot ebomvu ekuhlolweni kwelanga.
- Ukwelashwa : Kunezinhlobo eziningana zokwelashwa ngohlobo lwe-Niemann-Pick, kodwa aluphili lesi sifo. Lezi zihlanganisa igazi negazi lokupompela nokusiza ukuphefumula. Ukufakelwa komzimba kungasiza ukuhlala isikhathi eside futhi kunciphise imiphumela yesifo, kodwa futhi akuyona ikhambi.
- Isizathu : Uhlobo lwe-Niemann-Pick B lubangelwa isici ku-geni le-SMPD1, okuholela ekukhiqizeni okunciphise kwe-Acid Sphingomyelinase, okubangela ukuba i-sphingomyelin yakha emasethini, okuphazamisa nokusebenza kwezitho eziningana emzimbeni.
- Izakhi zofuzo : Zonke izinhlobo ze-Niemann-Pick isifo esiningi ngokweqile, kufaka phakathi uhlobo B. Abanye abantu bangase bazuze i-Niemann-Pick uhlobo B, kuhlanganise nalabo abazalwa amaJuda ase-Ashkenazi noma labo abavela kwezinye izindawo eNyakatho Afrika.
I-Niemann-Pick Uhlobo C
Uhlobo lwe-Niemann-Pick C luyinto ejwayelekile kunazo zonke zesifo, kodwa kusengavamile kakhulu, nabantu abangaba ngu-500 abasanda kutholakala emhlabeni wonke.
- Izimpawu : Izimpawu ze-Niemann-Pick uhlobo C zingaqala nganoma yisiphi isikhathi, kepha ngokuvamile ziqala ebuntwaneni. Izimpawu zihlanganisa ukubambezeleka kokufunda, ubuthakathaka bemisipha nokunciphisa ukusebenzisana. Lezi zinkinga ziqala ngemuva kokuba amakhono asevele ekhula ngokujwayelekile iminyaka embalwa. Izingane ezinezinhlobo ze-Niemann-Pick C zingase zilahlekelwe amandla okubuka phezulu futhi phansi ngamehlo azo futhi zingakha umbala wesikhumba ophuzi. Ukukhuluma nokuhamba ngezinkinga kungase kuthuthuke, kanye nokuhlushwa. Imisipha yokugubha nokugubha, kanye nokulahlekelwa okungazelelwe kwemizwa emisipha ngokuphendula imizwelo eqinile yiyo yonke imiphumela yokuzibandakanya kobuchopho.
- Ukuxilongwa : Izingane kanye nabantu abadala abane-Niemann-Pick uhlobo C bangaba nesibindi esandisiwe, nesifo se-spleen nesifo se-lung. Ukuxilongwa kwe-Niemann-Pick uhlobo C kuxhomeke emlandweni wemitholampilo kanye nokuhlolwa komzimba, kanye nokuhlolwa okubizwa ngokuthi ukuhlolwa kwe-filipin stain, okungabona i-cholesterol emangqamuzaneni esikhumba. Ukuhlolwa kofuzo kungabonakalisa iziphambeko kumagciwane we-NPC1 ne-NPC2.
- Ukwelashwa : Ayikho ikhambi leNiemann-Pick uhlobo C. Ukwelashwa kuqondiswa ekunciphiseni izimpawu, ukuhlinzeka ukulawula ubuhlungu, nokukhulisa induduzo.
- Isizathu : I-Neimann-Pick uhlobo C ihlukile kakhulu ezinhlotsheni ze-A no-B. Kukhona ukusweleka kwamaprotheni ahlobene nokudluliselwa nokucubungulwa kwe-sphingomeylin. Lokhu kunciphisa kwamaprotheni kubangela ukuqoqwa kwe-sphingomyelin, okuyinto eyakha ezithombeni eziningi zomzimba, ebangela izimpawu.
- Izakhi zofuzo : Isici se-NPC1 noma i-NPC2 geni sibangela uhlobo lokuntuleka kwamaprotheni uhlobo lwe-Niemann-Pick C. Njengalezo ezinye izinhlobo zesifo se-Niemann-Pick, lokhu kuyisifo esiphezulu se-autosomal esisho ukuthi ingane noma umuntu omdala onayo Izifo kumele zizuze izakhi zofuzo ezivela kubazali bobabili (abangenalo isifo ngokwabo).
Uhlobo lwe-Niemann-Pick D
Lokhu kuhlukahluka ngezinye izikhathi kubhekwa njengesifo esifanayo nohlobo C. Kwaqale kwaqashelwa kubantu abancane eNova Scotia, futhi kwacatshangwa ukuthi kuyindlela ehlukile ye-Niemann-Pick isifo, kodwa kusukela ngaleso sikhathi, leli qembu litholakale libe izici ezifanayo zesifo kanye nezakhi zofuzo ze-Niemann-Pick uhlobo C.
Ucwaningo
Kukhona ucwaningo oluqhubekayo ekukhethweni kokwelashwa kwesifo seNiemann-Pick. Ukushintshwa kwe-enzyme ehlulekile kuye kwacutshungulwa. Ngesikhathi samanje, lolu hlobo lwezokwelapha litholakala kuphela ngokubhalisa esilingo somtholampilo. Ungathola ulwazi mayelana nokuthi ungabamba iqhaza kanjani ekuvivinyweni kokwelashwa ngokubuza udokotela wakho noma ngokuxhumana noNiannannette Pick kanye nezinhlangano zokusekela.
Izwi elivela
Isifo se-Niemann-Pick sibangela izimbonakaliso eziningi eziphazamisa ukuphila okuvamile, futhi kubangele ukukhathazeka okukhulu, ubuhlungu nokukhubazeka. Kucindezeleka kakhulu kumndeni wonke lapho ukugula okunzima kube yingxenye yokuphila kwakho.
Uma wena noma ingane yakho ithola ukuthi unesifo se-Niemann-Pick, ukuhlupheka okuqhubekayo kusho ukuthi umndeni wakho kufanele uthole inethiwekhi enamandla yokwesekwa, kanye nochwepheshe abahlukahlukene ukuze banikeze ukunakekelwa okuhlukahlukene. Ngenxa yokuthi isifo esingavamile, kungase kudingeke useshe ukuthola abaqeqeshiwe abanolwazi ekuhlinzekeni izinsizakalo ozidingayo.
> Umthombo:
> Schuchman EH, u-Desnick RJ. Izinhlobo ze-A no-B Niemann-Pick. I-Mol Genet Metab. 2017; 120 (1-2): 27-33.