Ubuthakathaka beNiemann-Pick? Izimpawu, Izimbangela, Nokwelapha

Ubuthakathaka beNiemann-Pick buyisimo esingavamile sezofuzo lapho umzimba wakho ungakwazi khona ukwahlukanisa amafutha ne-kolesterol ngendlela efanele. Lokhu kwenzeka ngoba awunayo noma unemazinga aphansi e-enzyme ethile evame ukusiza ekuqondiseni lezi zinto ezisezingeni leziseli zakho.

Uma la mafutha eqala ukuqoqana ngokuhamba kwesikhathi, angathinta izingxenye eziningi zomzimba wakho, kufaka phakathi isibindi, ispleen, amaphaphu, ubuchopho, kanye nesistimu yezinzwa. Lesi simo sivela ngezinhlobo ezahlukene, ngayinye inephethini yayo yezimpawu nesikhathi.

Ziyini izinhlobo zobuthakathaka beNiemann-Pick?

Kunezinhlobo ezintathu eziyinhloko zobuthakathaka beNiemann-Pick, futhi ngayinye ibathinta abantu ngendlela ehlukile. Ukuqonda ukuthi yiluphi uhlobo olukhona kuwe noma kumuntu omthandayo kusiza odokotela ukuthi bahlele indlela engcono kakhulu yokunakekela.

Uhlobo A luyisimo esinamandla kakhulu futhi ngokuvamile lubonakala ebuntwaneni. Izingane ezinaleli hlobo ngokuvamile zibonisa izimpawu ezinyangeni ezimbalwa zokuqala zokuphila, kufaka phakathi ubunzima bokudla, isibindi esikhulu nespleen, kanye nokulibaziseka ekuthuthukeni.

Uhlobo B luvamise ukuba lumnene futhi lungabonakala ebuntwaneni, ebusheni, noma ngisho nasebudaleni. Abantu abaneHlobo B ngokuvamile banesisebenzi esiqondile sobuchopho kepha bangaba nezinkinga zamaphaphu, amalungu amakhulu, kanye nezinkinga zokukhula.

Uhlobo C luhlukile kakhulu ku-A ne-B. Lungabonakala kunoma yiliphi iminyaka, kusukela ebuntwaneni kuya ebudaleni. Leli hlobo ngokuyinhloko lithinta ubuchopho nesistimu yezinzwa, liholela ezinkingeni zokunyakaza, ubunzima bokukhuluma, kanye nezinguquko ekucabangeni nasekuziphatheni ngokuhamba kwesikhathi.

Ziyini izimpawu zobuthakathaka beNiemann-Pick?

Izimpawu ongazibona ziyahluka kakhulu kuye ngohlobo lobuthakathaka beNiemann-Pick olukhona nokuthi luqala nini. Ukuqaphela okusheshayo kwalezi zimpawu kungakusiza uthole ukunakekelwa okufanele kwezokwelapha ngokushesha.

NgoHlobo A, oluthinta izingane, ungabona:

• Izinkinga zokudla nokungakhuli ngokujwayelekile
• Isisu esikhulu ngenxa yesibindi nespleen esikhulu
• Ukulibaziseka ekufezeni izigaba zokuthuthuka njengokuhlala noma ukuhamba
• Ubuthakathaka bemisipha kanye nomoya ophansi wemisipha
• Ukutheleleka kwamaphaphu okuvamile
• Iphuzu elibomvu le-cherry emehlweni odokotela abangalibona ngesikhathi sokuhlolwa

Ngezimpawu zoHlobo B, ezingabonakala kamuva ebuntwaneni noma ebudaleni, ungaba:

• Ubunzima bokuthola umoya noma izinkinga zamaphaphu
• Ukwehla kalula noma ukuphuza igazi
• Isibindi nespleen esikhulu esibangela ukungakhululeki esiswini
• Izinkinga zamathambo noma ukuphula amathambo okuvamile
• Amazinga aphezulu e-kolesterol ezivivinyweni zegazi
• Ukulibaziseka kokukhula ezinganeni

Uhlobo C lubonisa iphethini ehlukile yezimpawu evame ukuhilela uhlelo lwezinzwa:

• Ubunzima bokuxhumanisa nokulinganisela
• Izinkinga zokunyakaza kwamehlo, ikakhulukazi ukubuka phezulu naphansi
• Ukukhuluma okungacaci noma ubunzima bokuginya
• Izinguquko ekuziphatheni, emazwini, noma ubuntu
• Ubunzima bokufunda noma izinkinga zokukhumbula
• Ukuhlushwa kwezifo ezithile
• Ukulahlekelwa ukuzwa okuthuthuka ngokuhamba kwesikhathi

Khumbula ukuthi izimpawu zingase zihluke kakhulu kumuntu nomuntu, ngisho nangaphakathi kohlobo olufanayo. Abanye abantu banezimpawu ezilula ezikhula kancane, kanti abanye bangaba nezinguquko eziqhutshwa ngokushesha.

Yini ebangela ubuthakathaka beNiemann-Pick?

Ubuthakathaka beNiemann-Pick buvela ngenxa yezinguquko ezinzwaneni zakho oziizuza kubazali bakho. Lezi zinguquko zezofuzo ziyahlukanisa indlela umzimba wakho owenza ngayo i-enzyme ethile ehlukanisa amafutha ne-kolesterol.

NgoHlobo A ne-B, inkinga ikulesi gene esenza i-enzyme ebizwa nge-acid sphingomyelinase. Uma le enzyme ingasebenzi kahle, izinto ezinemafutha ebizwa nge-sphingomyelin ziyaqoqana ezintweni zakho, ikakhulukazi ezingxenyeni zomzimba njengesibindi, ispleen, namaphaphu.

Uhlobo C luhilela ama-gene ahlukile ngokuphelele. La ma-gene ngokuvamile ayalusiza ukususa i-kolesterol namanye amafutha ngaphakathi kweseli zakho. Uma engasebenzi kahle, i-kolesterol ivaleleke ngaphakathi kweseli esikhundleni sokuqaliswa ngokujwayelekile.

Udinga ukuzuza i-gene ephosakele kubazali bobabili ukuze uthole lesi sifo. Uma uzuza ikhophi elilodwa kuphela le-gene eshintshile, ubizwa ngokuthi ungumthwali futhi ngokuvamile awunazo izimpawu, kodwa ungadlulisela i-gene kubantwana bakho.

Ziyini izici ezingozi zobuthakathaka beNiemann-Pick?

Isifo esiyinhloko sokuthuthukisa ubuthakathaka beNiemann-Pick ukuba nabazali abathwala bobabili izinguquko zezofuzo ezibangela lesi simo. Njengoba lokhu kuyisifo esidluliselwa ezizukulwaneni, umlando womndeni udlala indima ebaluleke kakhulu.

Amaqembu ethu ethile anezinga eliphezulu lokuba ngabathwali bezinhlobo ezithile. Isibonelo, Uhlobo A luvamile kakhulu kubantu abavela e-Ashkenazi Jewish, kanti Uhlobo B luvamile kakhulu kubantu baseNyakatho Afrika, ikakhulukazi eTunisia naseMorocco.

Uma unomlando womndeni wesifo noma uvela eqenjini lesizwe elinamazinga aphezulu, ukwelulekwa kwezofuzo kungakusiza uqonde amathuba akho okuba ngumthwali noma ukuba nengane ethintekile.

Kufanele ubona nini udokotela ngenxa yobuthakathaka beNiemann-Pick?

Kufanele uxhumane nodokotela wakho uma uqaphela izimpawu ezinkulu, ikakhulukazi uma zibonakala ziba zimbi ngokuhamba kwesikhathi. Ukwelashwa kwezokwelapha okusheshayo kungenza umehluko wangempela ekulawuleni lesi simo.

Ezinganeni ezincane nasezinganeni ezincane, xhumana nodokotela wakho wezingane uma ubona ubunzima bokudla, ukulibaziseka ekuthuthukeni, noma isisu esikhulu esingabonakali sijwayelekile. Lezi zimpawu zidinga ukuhlolwa okusheshayo ukuze kuvinjwe izimo ezahlukene, kufaka phakathi ubuthakathaka beNiemann-Pick.

Abantu abadala kufanele bafune ukunakekelwa kwezokwelapha ngezinkinga zamaphaphu ezingachazwanga, ukwehla kalula, ubunzima bokuxhumanisa, noma izinguquko ekucabangeni nasekuziphatheni. Nakuba lezi zimpawu zingaba nezizathu eziningi, kubalulekile ukuthi ziqalwe kahle.

Uma unomlando womndeni wobuthakathaka beNiemann-Pick futhi uhlela ukuba nezingane, cabanga ukukhuluma nomxhumanisi wezofuzo ngaphambi kokukhulelwa. Bangakusiza uqonde izingozi nezinketho zokuhlola ezitholakalayo.

Ziyini izinkinga ezingase zenzeke ngenxa yobuthakathaka beNiemann-Pick?

Izinkinga ongahlangabezana nazo ziyahluka kuye ngohlobo lobuthakathaka beNiemann-Pick olukhona nokuthi luqhubeka kanjani ngokuhamba kwesikhathi. Ukuqonda lezi zinto ezingase zenzeke kusiza wena neqembu lakho lezokwelapha ukuba niqaphele izinguquko futhi nihlele ukunakekelwa okufanele.

Izinkinga ezivamile kuwo wonke ama-type zihlanganisa:

• Izinkinga ezinkulu zamaphaphu ezingenza kube nzima ukuphefumula
• Ukwehluleka kwesibindi uma ilungu lomzimba lilimazeke kakhulu
• Ukungena kalula kwezifo ngenxa yespleen esikhulu
• Izinkinga zokopha lapho ukukhiqizwa kwamaseli egazi kuthinteka
• Izinkinga zamathambo kufaka phakathi ingozi yokuphazamiseka okukhulu

NgoHlobo C ngokukhethekile, izinkinga zezinzwa zivame ukuba yizinselele kakhulu:

• Ubunzima obuqhubekayo bokwenza imisebenzi yomzimba nokulinganisela
• Izinkinga zokugwinya ezingadala ukuhlushwa noma ukutheleleka kwamaphaphu
• Ukuhlushwa kwezifo ezithile okungase kube nzima ukulawula ngokuhamba kwesikhathi
• Izinguquko ekusebenzeni kwengqondo nasekukhumbula
• Izinkinga zokukhuluma ezingathinta ukuxhumana

Nakuba lezi zinkinga zizwakala zikhulu, khumbula ukuthi akuwona wonke umuntu ohlangabezana nazo zonke. Iqembu lakho lezokwelapha lizohlala lisebenza nawe ukuze liqaphele lezi zinkinga futhi lizixazulule njengoba zivela.

Ubuthakathaka beNiemann-Pick butholakala kanjani?

Ukuthola ubuthakathaka beNiemann-Pick kuhilela izinyathelo eziningana, futhi udokotela wakho cishe uzoqala ngomlando ophelele wezokwelapha nokuhlolwa komzimba. Uzokubuza ngezimpawu zakho, umlando womndeni, nanoma yiziphi izibonelo azibonile.

Izivivinyo zegazi zidlalela indima ebalulekile ekutholeni. NgoHlobo A ne-B, odokotela bangalinganisa umsebenzi we-enzyme ye-acid sphingomyelinase e-white blood cells yakho. Amazinga aphansi abonisa lezi zinhlobo zesifo.

NgoHlobo C, inqubo yokuthola iyinkimbinkimbi kakhulu. Udokotela wakho angase ahlole ukuthi amaseli akho aphatha kanjani i-kolesterol ngokuthatha isampula encane yesikhumba nokukhulisa amaseli elabhorethri. Bangalinganisa futhi izinto ezithile egazini lakho noma emchameni.

Ukuhlolwa kwezofuzo kungakuqinisekisa ukuthola ngokubona izinguquko ezithile zezofuzo ezibangela yonke into. Lokhu kuhlolwa kungakusiza futhi ubone ukuthi yiluphi uhlobo olukhona, okubalulekile ekucenzeni ukwelashwa.

Ngezinye izikhathi ukuhlolwa okwengeziwe njengokuhlola izithombe zamalungu akho noma ukuhlolwa kwamehlo okukhethekile kusiza ekuqinisekiseni ukuthola nokulinganisa ukuthi lesi sifo sithinta kanjani izingxenye ezahlukene zomzimba wakho.

Yikuphi ukwelashwa kobuthakathaka beNiemann-Pick?

Ukwelashwa kobuthakathaka beNiemann-Pick kugxile ekulawuleni izimpawu nasekusekeleni ikhwalithi yakho yokuphila, njengoba okwamanje alukho ukwelashwa olukhona ezinhlotsheni eziningi. Noma kunjalo, indlela yokwelapha iyahluka kakhulu kuye ngohlobo olukhona.

NgoHlobo C, kunomuthi ovunyiwe yi-FDA oqanjwe nge-miglustat ongase asize ekuthambiseni ukuqhubeka kwezimpawu zezinzwa. Lo muthi usebenza ngokunciphisa ukukhiqizwa kwezinto ezithile eziyaqoqana ezintweni zakho.

Ukwelashwa okusekela okusiza kuwo wonke ama-type kuhlanganisa:

• Ukwelashwa komzimba ukuze kulondolozwe ukuhamba nokomelela
• Ukwelashwa kokukhuluma ngenxa yobunzima bokuxhumana nokugwinya
• Ukwelashwa komsebenzi ukuze kusize emisebenzini yansuku zonke
• Ukusekelwa kokudla ukuze kuqinisekiswe ukudla okufanele
• Ukwelashwa kokuphefumula ngenxa yezinkinga zokuphefumula
• Imithi yokulawula izimpawu ezithile njengokuhlushwa kwezifo ezithile

Ngenxa yezinkinga ezinkulu zamaphaphu e-Types A ne-B, abanye abantu bayazuza ekufakweni kwamaphaphu, nakuba lokhu kuyisinqumo esikhulu esidinga ukucabangwa ngokucophelela neqembu lakho lezokwelapha.

Ukuhlinzwa kwamathambo kuye kwazama ezimweni ezithile, kepha imiphumela iye yahluka futhi akucabangi ukuba ukwelashwa okujwayelekile kwabaningi abane-Niemann-Pick disease.

Ungalulamisa kanjani ubuthakathaka beNiemann-Pick ekhaya?

Ukulawula ubuthakathaka beNiemann-Pick ekhaya kuhilela ukudala indawo yokusekela ekusiza wena noma umuntu omthandayo ukuba ugcine ikhwalithi engcono kakhulu yokuphila. Ukulungiswa okuncane kwansuku zonke kungenza umehluko obalulekile.

Gxilisa ukugcina ukudla okuhle, ngisho nalapho ukudla kuyahlupheka. Sebenza nodokotela wezondlo ukuze uthole ukudla okulula ukugwinya futhi kunikeze ukudla okuhle. Izinto ezinzima noma ukudla okuthambile kungase kudingeke njengoba ukugwinya kuyahlupheka.

Gcina umsebenzi womzimba ngangokunokwenzeka, ulungise imisebenzi yomzimba emandleni akho. Ukuqina okuthambile, ukuhamba, noma ukubhukuda kungasiza ekuqinisweni kwemisipha nasekugcineni ukuguquguquka. Udokotela wakho wezokwelapha angakuncoma imisebenzi ethile ehambisana nesimo sakho.

Dala indawo ekhaya ephephile ngokususa izinto ezingase zibangele ukuwela, ufake izandla lapho kudingeka, futhi uqinisekise ukukhanya okuhle kuyo yonke indawo yakho yokuhlala. Lezi zinguquko ziyaqala ukuba ebaluleke njengoba ukulinganisela nokuxhumanisa kuyahluka.

Hlala uxhumene neqembu lakho lezokwelapha futhi ungangabazi ukuxhumana lapho uqaphela izinguquko ezimpawu. Ukuqapha okujwayelekile kusiza ekutholeni izinkinga ngokushesha futhi kulungise ukwelashwa njengoba kudingeka.

Kufanele uzilungiselele kanjani i-aphoyintimenti yakho nodokotela?

Ukulungiselela kahle i-aphoyintimenti yakho kusiza ukuba wenze okuningi ngesikhathi sakho nodokotela wakho. Qala ngokubhala zonke izimpawu zakho, kufaka phakathi ukuthi zaqala nini nokuthi ziguquke kanjani ngokuhamba kwesikhathi.

Letha uhlu oluphelele lwemithi, izithasiselo, namavithamini owathatha, kufaka phakathi amazinga. Buye uqoqe noma yimiphi imiphumela yokuhlola yangaphambili, amarekhodi ezokwelapha, noma imibiko evela kwabanye odokotela obabonile ngalezi zimpawu.

Lungiselela uhlu lwemibuzo ofuna ukuyibuza. Cabanga ukubuza ngezinketho zokwelapha, lokho okufanele ukulindele njengoba lesi sifo siqhubeka, izinsiza zokusekela, nokuthi ungalawula kanjani izinselele zansuku zonke obhekene nazo.

Uma kungenzeka, letha ilungu lomndeni noma umngane oseduze ongakusiza ukuba ukhumbule ulwazi olukhulu oluxoxwe ngesikhathi se-aphoyintimenti. Bangakwazi futhi ukunikeza ukubuka okwengeziwe ngezinguquko abazibonile.

Bhala umlando wezokwelapha womndeni wakho, ikakhulukazi noma yimiphi izihlobo ezingase zibe nezimpawu ezifanayo noma zitholwe zinezinqubo zezofuzo. Lolu lwazi lungaba lubalulekile ekulinganisweni lodokotela wakho.

Iyini into ebaluleke kakhulu ngobuthakathaka beNiemann-Pick?

Ubuthakathaka beNiemann-Pick buyisimo esinzima sezofuzo, kodwa ukuqonda kangcono kusiza ukuba uhambe lohambo oluzayo ngethemba elikhulu. Nakuba alukho ukwelashwa okwamanje, ukwelashwa nokusekelwa kungathuthukisa kakhulu ikhwalithi yokuphila futhi kusize ekulawuleni izimpawu.

Into ebaluleke kakhulu okumele uyikhumbule ukuthi awuwedwa kule nto. Iqembu lezokwelapha elinamandla, ukusekelwa komndeni, nezinhlangano zokusekela iziguli zingakunikeza izinsiza ezibalulekile nokuxhumana nabanye abaqonda ukuthi uhamba ngani.

Ucwaningo mayelana nokwelashwa okusha luyaqhubeka, futhi ukuhlolwa kwemithi kungakunikeza izinketho ezengeziwe. Hlala uxhumene neqembu lakho lezokwelapha mayelana nokwelashwa okusha okungase kufaneleke esimweni sakho esithile.

Gxilisa ukugcina ikhwalithi engcono kakhulu yokuphila ngokusebenzisana nochwepheshe bezokwelapha, ulungise indawo yakho njengoba kudingeka, futhi ugubhe izinqoba ezincane endleleni. Uhambo lwabo bonke abantu olune-Niemann-Pick disease luyizigaba, futhi kuhlale kukhona ithemba lokulawula kangcono nokusekelwa.

Imibuzo evamile ebuzwa ngobuthakathaka beNiemann-Pick

Ingabe ubuthakathaka beNiemann-Pick bubulala?

Umbono uyahluka kakhulu kuye ngohlobo nobunzima besifo. Uhlobo A ngokuvamile lubonisa isimo esibi kakhulu, ngaphandle kwabaningi abantwana abangaphili ngaphezu kobutshwana. Uhlobo B lungavumela ukuphila okujwayelekile ngokwengeziwe ngokulawulwa okufanele, kanti ukuqhubeka koHlobo C kuyahluka kakhulu kumuntu nomuntu. Abantu abaningi abane-Types B ne-C baphila kahle kuze kube sebudaleni ngokunakekelwa nokusekelwa okufanele.

Ingabe ubuthakathaka beNiemann-Pick bungavinjelwa?

Njengoba lokhu kuyisifo sezofuzo esidluliselwa ezizukulwaneni, awukwazi ukukuvimbela uma usuvele unezinguquko zezofuzo. Noma kunjalo, ukwelulekwa kwezofuzo ngaphambi kokukhulelwa kungabasiza abantu abashadile ukuqonda ingozi yabo yokuba nengane ethintekile. Ukuhlolwa kokukhulelwa kutholakala emindenini enomlando owaziwayo wesifo, kuvumela izinqumo ezisekelwe olwazini mayelana nokuphathwa kokukhulelwa.

Ingabe ubuthakathaka beNiemann-Pick buyatheleleka?

Cha, ubuthakathaka beNiemann-Pick abuthatheli. Awukwazi ukubamba kumuntu onalesi simo noma ukusakaza kwabanye. Kuyisifo sezofuzo kuphela osizwa kubazali bakho nge-gene yabo, hhayi into esakazeka ngokuthinta, umoya, noma nganoma iyiphi enye indlela.

Ubuthakathaka beNiemann-Pick buvamile kangakanani?

Ubuthakathaka beNiemann-Pick bubunzima kakhulu, buthinta cishe umuntu oyedwa ku-250,000 abantu ngokujwayelekile. Uhlobo A luvela cishe kumuntu oyedwa ku-40,000 ezelweni ezingane ezivela e-Ashkenazi Jewish kodwa lulinganiselwe kakhulu kwezinye izigaba. Uhlobo B luvamile kakhulu kubantu baseNyakatho Afrika. Uhlobo C luthinta cishe umuntu oyedwa ku-150,000 ezelweni ezingane kuwo wonke amaqembu ethu.

Ingabe abantu abadala bangaba nezimpawu zobuthakathaka beNiemann-Pick okokuqala?

Yebo, ikakhulukazi ngoHlobo B ne-C. Izimpawu zoHlobo B zingabonakala okokuqala ebudaleni, ngezinye izikhathi kungabi kuze kube lapho abantu beseminyakeni yama-20, ama-30, noma kamuva. Uhlobo C lungaqala futhi ukubonisa izimpawu kunoma yiliphi iminyaka, kufaka phakathi kubantu abadala abangazange babe nezimpawu ngaphambili. Uma uthuthukisa izimpawu zezinzwa ezingachazwanga, izinkinga zamaphaphu, noma ezinye izimpawu ezinkulu, kufanele ukhulume nodokotela wakho ngisho noma awukaze ube nezimpawu ngaphambili.