Isifo se-Niemann-Pick sisifo esingaqhelekanga sonyango lwezofuzo. Kukho iintlobo ezine zezi zifo, zihlulwe njengoluhlu A, uhlobo B, uhlobo C, kunye nohlobo D. Isifo se-Niemann-Pick senza iintlobo zeengxaki zonyango, kwaye ngokukhawuleza zihamba phambili ngokukhawuleza. Iimpawu kunye nemiphumo yazo zonke iintlobo zezifo ze-Niemann-Pick zibangelwa kwisakhiwo se-sphingomyelin, uhlobo lweoli, emzimbeni.
Ngelishwa, akukho nonyango ecacileyo yesifo se-Niemann-Pick, kunye nabantu abanesifo esiphantsi kwesifo kunye nokufa beselula. Ukuba wena okanye wakho umntwana uye wafumanisa ukuba unesifo se-Niemann-Pick, unokufumana inzuzo ngokukwazi okuningi malunga nemeko ngokunokwenzeka.
Izizathu
Isizathu se-Niemann-Pick isifo siyinkimbinkimbi. Abantu abanesi sifo bazuza ilifa leempawu ezininzi zeemfuyo, okubangelwa kwinqanaba le-sphingomyelin, uhlobo lweoli. Njengoko i-sphingomyelin ikwakhiwa kwiiseli zesibindi, i-pleen, amathambo, okanye inkqubo ye-nervous, le mimandla yomzimba ayikwazi ukusebenza njengakufunekayo, okubangelwa nayiphi na impawu ezibonakalisa isifo.
Iintlobo
Iintlobo ezahlukeneyo zezifo ze-Niemann-Pick zihluke omnye komnye ngeendlela ezininzi.
- Zibangelwa iziphene ezahlukeneyo zofuzo.
- Ziye zibonakaliswe ziinkqubo ezahlukeneyo zezinto eziphilayo ezenza ukuba i-sphingomyelin yakha.
- I-sphingomyelin engaphezulu ichaphazela iindawo ezahlukeneyo zomzimba.
- Baqala nganye kwixesha elihlukeneyo.
- Isiphumo sohlobo ngalunye asifani.
Oko bafana nazo zonke kukuba zizo zonke iziphoso eziphathekayo ezibangelwa ukwanda kwe-sphingomyelin.
Uhlobo lwe-Niemann-Pick
Uhlobo A luqala ukuvelisa iimpawu ngexesha lokusana kwaye lubhekwa njengesimo esibi kakhulu se-Niemann-Pick.
Nenye yezinto ezahlukileyo ezibandakanya inkqubo yeentlanzi .
- Iimpawu: Iimpawu ziqala malunga neenyanga ezintandathu kwaye zibandakanya: ukukhula kancinci komzimba, ukunyameka kwemisipha kunye ne-tone muscle ebuthakathaka, ukukhathazeka ngokutya, iingxaki zokuphefumula kunye nokukhawuleza okanye ukulibaziseka uphuhliso lwezakhono ezinjenge-sitting and speaking. Ngokuqhelekileyo, iintsana ne-Niemann-Pick uhlobo A zikhula ngokuqhelekileyo okanye ziqhele ngokuqhelekileyo kwiinyanga ezimbalwa zokuqala zezobomi kwaye ziqala ukuba neempawu.
- Ukuxilongwa: Ukuba umntwana wakho akavelanga ngokuqhelekileyo, kunokubakho inani elinokubangela. Abantwana abaninzi abane-Niemann-Pick Uhlobo A bane-spleen enkulu kunye nesibindi esikhulu, amanqanaba aphezulu e-cholesterol, kunye nebala elibomvu elibonakalayo elibonakalayo ekuhlolweni kweso. Le miqondiso ayiqinisekisi ukuxilongwa, nangona kunjalo. Ukuba ugqirha wakho ucinga ukuba uhlobo lwe-Niemann-Pick uhlobo A lubangela impawu zomntwana wakho, zikhona iimvavanyo ezimbalwa eziqinisekisa eso sifo. I-Acid Sphingomyelinase ilindeleke ukuba iyancipha, kwaye eli nqanaba linokulinganiswa kwiiseli ezimhlophe zegazi. Kukho kwakhona uvavanyo lwemizimba olukwazi ukuchonga i-gene ngokwemvelo.
- Unyango: Ukuba umntwana wakho ufumene i-Niemann-Pick uhlobo A, akukho zonyango ezingaphezulu kwenkxaso kunye nentuthuzelo. Ngelishwa, abantwana abanesi sifo abalindeleke ukuba baphile ngaphaya kweminyaka yobudala engama-3 okanye-4.
- Isizathu: Uhlobo lwe-Niemann-Pick A lubangelwa sisitenxo somgulo obizwa ngokuba yi-SMPD1. Le khowudi iguqula ukuveliswa kwe-sphingomyelinase, i-enzyme ephula i-sphingomyelin, inqatha edla ngokuphakathi kweeseli zomzimba. Xa i-sphingomyelin ayikwazi ukuphulwa phantsi njengoko kufanelekile, iiseli zomzimba ziyayifumana, kwaye ubukho beli fatwe obuninzi buvimbela amalungu ukuba asebenze ngokuqhelekileyo.
- I-Genetics: Esi sifo siyi-autosomal ngokweqile, oko kuthetha ukuba umntwana kufuneka ukuba ufumene i-gene evela kubazali bobabini ukwenzela ukuba isifo sikhule. Abantu baseAshkenazi bazalwa ngamaYuda banethuba elihle lokufumana le meko.
Uhlobo lwe-Niemann-Pick
Uhlobo B lubhekwa njengoluhlobo olubi kakhulu lwe-Niemann-Pick isifo kunelo hlobo A. Lubangelwa uhlobo olufanayo lwesifo esingavamile, esiphumela ekunqongopheni kwe-sphingomyelinase. Umehluko omkhulu phakathi kohlobo A kunye nohlobo B kukuba abantu abanomhlobo B banako ukuvelisa ngakumbi i-sphingomyelinase kakhulu kunabantu abenza uhlobo A. Lo mda wubangela ukuba kubekho ukutshalwa kwe-sphingomyelin engaphantsi, okungenani okungenani i-akhawunti yokudala ubudala apho uhlobo lwe-B luqala, iziphumo ezingcono, kunye nokuhlala ixesha elide. Ayichazi ngokupheleleyo ukuba kutheni u-A, ngelixa ukubandakanyeka kweengqondo kungavamile kuhlobo B.
- Iimpawu : Iimpawu ziqala ngexesha lomdala kwaye zingabandakanya isibindi esikhulu, i-spleen enkulu, ubunzima bokuphefumla, kunye nokuphuma kwamanzi. Abantu abadala abakhulileyo banesiphumo esingcono kwaye basinda ixesha elide kunabantu abaselula abasenokuba isifo esihlukile.
- Ukuxilongwa : Njengoko luhlobo lwe-A, i-Acid Sphingomyelinase iyancipha kwiiseli ezimhlophe zegazi, kwaye ukuhlolwa kofuzo lwe-SMPD1 kunokuqinisekisa isi sifo. Amanqanaba egazi ye-cholesterol kunye ne-triglycerides inokuphakanyiswa. Abanye abantu abane-Niemann-Pick uhlobo B banokuba nebala elibomvu lokubaluleka ekuhlolweni kweso.
- Unyango : Kukho unyango oluninzi lwe-Niemann-Pick uhlobo B, kodwa aluphilisi eso sifo. Ezi zibandakanya igazi negazi lokupasa kunye nokuncedisa ukuphefumla. Ukufakelwa komzimba kunokunceda ukwandisa ukusinda nokunciphisa imiphumo yesifo, kodwa akuyiyo yonyango.
- Isizathu : Uhlobo lwe-Niemann-Pick B lubangelwa yimpembelelo kwi-SMPD1, eyiphumela ekuveliseni imveliso ye-Acid Sphingomyelinase, eyenza ukuba i-sphingomyelin yakhiwe kwiiseli, nto leyo iphazamise umsebenzi wezitho ezininzi emzimbeni.
- I-Genetics : Zonke iindidi ze-Niemann-Pick isifo se-autosomal, equka uhlobo B. Abanye abantu banokuthi bazuze i-Niemann-Pick uhlobo B, kubandakanywa ne-Askenazi yamaYuda okanye abo bavela kwezinye iindawo eMntla Afrika.
Uhlobo lwe-Niemann-Pick
Uhlobo lwe-Niemann-Pick luhlobo oluqhelekileyo kwesi sifo, kodwa sisabunqabile, kunye nabantu abangama-500 abasandul
- Iimpawu : Iimpawu ze-Niemann-Pick uhlobo C zingaqala nanini na ubudala, kodwa ngokubanzi ziqala ukususela ebuntwaneni. Iimpawu ziquka ukulibaziseka kokufunda, ubuthathaka obuthathaka kunye nokunciphisa ukusebenzisana. Ezi ngxaki ziqala emva kokuba izakhono sele ziqulunqwe ngokuqhelekileyo kwiminyaka embalwa. Abantwana abane-Niemann-Pick uhlobo C bangaphinda balahlekelwe ukukwazi ukujonga phezulu kunye neenyawo zabo kwaye banokuvelisa umbala wesikhumba ophuzi. Ingxaki yokuthetha kunye nokuhamba ingahlakulela, kunye neentlanzi. Ukuxubha kunye nokuxubha imisipha, kunye nokulahlekelwa ngokukhawuleza kwesithintelo somsila ekuphenduleni iimvakalelo ezinamandla ziphumo zonke zokubandakanyeka kwengqondo.
- Ukuxilongwa : Abantwana kunye nabantu abadala abane-Niemann-Pick uhlobo C unokuba nesibindi esandisiweyo, kunye nesifo esilisiwe, nesifo seemiphunga. Ukuxilongwa kwe-Niemann-Pick uhlobo lweC uxhomekeke kwimbali yekliniki kunye nokuhlolwa komzimba, kunye novavanyo olubizwa ngokuba luvavanyo lwe-filipin stainting, oluya kubona i-cholesterol kwiiseli zesikhumba. Uvavanyo lofuzo luyakwazi ukubona iziphene kwi-NPC1 ne-NPC2.
- Unyango : Akukho nonyango ye-Niemann-Pick uhlobo C. Ukonyango kujoliswe ekunciphiseni iimpawu, ukubonelela ukulawula ubuhlungu, nokukhulisa induduzo.
- Isizathu : I-Neimann-Pick uhlobo C luhluke kakhulu kwiintlobo A no-B. Kukho ukunqongophala kweeprotheni ezinxulumene nokudluliselwa kunye nokuqhutyelwa kwe-sphingomeylin. Oku kunqongophala kweeprotheyini kubangele ukuqokelela kwe-sphingomyelin, leyo eyakhayo kwiindawo ezininzi zomzimba, ezibangela iimpawu.
- I-Genetics : Isiphako sohlobo lwe-NPC1 okanye i-NPC2 luphumela kwi-protein yokunqongophala kweprothini ye-Niemann-Pick uhlobo C. Njengayezinye iintlobo ze-Niemann-Pick isifo, esi sisifo se-autosomal disorder esiyintloko esithetha ukuba umntwana okanye umntu omdala Izifo kufuneka zizuze iigeni ezivela kubazali bobabini (abasenalo isifo ngokwabo).
Uhlobo lwe-Niemann-Pick
Ngamanye amaxesha oku kuhluthwa kuthathwa njengesifo esifana neso hlobo C. Kwakuqala ukubonakala kwiqela elincinci eNova Scotia, kwaye licinga ukuba lihlukile kwimeko yesifo se-Niemann-Pick, kodwa ukususela ngoko, eli qela lifunyenwe iimpawu zesifo esifanayo kunye ne-genetics ye-Niemann-Pick uhlobo C.
Uphando
Kukho uphando oluqhubekayo kwiindlela zokonyango ze-Niemann-Pick. Ukutshintshwa kwe-enzyme ekhoyo kuye kwafundwa. Ngexesha langoku, olu hlobo lonyango lufumaneka kuphela ngokubhalisa kwilingo leklinikhi. Unokufumana ulwazi malunga nendlela yokuthatha inxaxheba kwizilingo zeklinikhi ngokucela ugqirha okanye ngokuqhagamshelana ne-Niemann-Pick ukukhuthaza nokuxhasa imibutho.
ILizwi
Isifo se-Niemann-Pick sibangela impawu ezininzi eziphazamisa ubomi obusisigxina, kwaye zibangele ubunzima obukhulu, intlungu kunye nokukhubazeka. Kuxinzeleleke kakhulu kwintsapho xa isifo esibi kakhulu siba yingxenye yobomi bakho.
Ukuba wena okanye umntwana wakho ufumene ukuba unesifo se-Niemann-Pick, ukunyamezeleka kwintsapho kuthetha ukuba intsapho yakho ifumane inethiwekhi exhasekileyo, kunye neengcali ezahlukeneyo zokubonelela ngononophelo. Ngenxa yokuba isifo esinqabileyo, unokufuna ukukhangela ukufumana abaqeqeshi abanamava ekunikezeni iinkonzo ozifunayo.
> Umthombo:
> Schuchman EH, Desnick RJ. Iintlobo ze-A ne-B Niemann-Pick. Mol Genet Metab. 2017; 120 (1-2): 27-33.