Siyini isifo se-Niemann-Pick, izimpawu kanye nokwelashwa

-Delile

• Izimpawu eziyinhloko
• 1. Thayipha u-A
• 2. Thayipha B
• 3. Uhlobo C
• Yini ebangela isifo seNiemann-Pick
• Yelashwa kanjani

Isifo i-Niemann-Pick isifo esingajwayelekile sezakhi zofuzo esibonakala ngokunqwabelana kwama-macrophage, angamaseli egazi abhekele ukuvikela umzimba, agcwele ama-lipids kwezinye izitho ezinjengobuchopho, ubende noma isibindi, ngokwesibonelo.

Lesi sifo ikakhulu sihlobene nokushoda kwe-enzyme sphingomyelinase, okuyiyona ebhekele ukwakheka kwamafutha ngaphakathi kwamangqamuzana, okwenza amanoni aqoqane ngaphakathi kwamaseli, okuholela ezinkomba zesifo. Ngokuya ngesitho esithintekile, ukuqina kokushoda kwe-enzyme kanye nobudala lapho kuvela khona izimpawu nezimpawu, isifo se-Niemann-Pick singahlukaniswa ngezinhlobo ezithile, okuyizona eziphambili yilezi:

• Uhlobo A, olubizwa nangokuthi i-acute neuropathic Niemann-Pick isifo, okuluhlobo olunzima kakhulu futhi oluvame ukuvela ezinyangeni zokuqala zokuphila, kunciphisa ukusinda kuye eminyakeni engaba ngu-4 kuye kwengu-5 ubudala;
• Uhlobo B, olubizwa nangokuthi i-visceral Niemann-Pick isifo, okuwuhlobo olungaqinile kangako A oluvumela ukusinda kufinyelele ebudaleni.
• Uhlobo C, olubizwa nangokuthi isifo esingelapheki se-Niemann-Pick, okuwuhlobo oluvame kakhulu oluvame ukuvela ebuntwaneni, kodwa olungakhula nganoma yisiphi isikhathi, futhi luyisici se-enzyme, esibandakanya imali engavamile ye-cholesterol.

Alisekho ikhambi lesifo sikaNiemann-Pick, kodwa-ke, kubalulekile ukuvakashelwa njalo ngudokotela wezingane ukuhlola ukuthi zikhona yini izimpawu ezingalashwa, ukuze kuthuthukiswe izinga lempilo lengane.

Izimpawu eziyinhloko

Izimpawu zesifo sikaNiemann-Pick ziyehluka ngokuya ngohlobo lwesifo nezitho ezithintekile, ngakho-ke izimpawu ezivame kakhulu ohlotsheni ngalunye zifaka:

1. Thayipha u-A

Izimpawu zesifo i-Niemann-Pick isifo sohlobo A zivame ukuvela phakathi kwezinyanga ezintathu nezingu-6, okokuqala zibonakala ngokuvuvukala kwesisu. Ngaphezu kwalokho, kungahle kube nobunzima ekukhuleni nasekuzuzeni isisindo, izinkinga zokuphefumula ezibanga ukutheleleka okuphindayo nokukhula kwengqondo okujwayelekile kuze kufike ezinyangeni eziyi-12, kodwa okuye kwehle.

2. Thayipha B

Izimpawu zohlobo B ziyafana kakhulu nalezo zesifo sohlobo A Niemann-Pick, kepha ngokuvamile azibi kakhulu futhi zingavela ebuntwaneni obuzayo noma ngesikhathi sobusha, ngokwesibonelo. Ngokuvamile kuncipha noma akukho nhlobo kokuwohloka kwengqondo.

3. Uhlobo C

Izimpawu eziyinhloko zesifo sohlobo C Niemann-Pick yilezi:

• Kunzima ekuxhumaniseni ukunyakaza;
• Ukuvuvukala kwesisu;
• Kunzima ukuhambisa amehlo akho abheke phezulu;
• Ukwehla kwamandla emisipha;
• Izinkinga zesibindi noma zamaphaphu;
• Kunzima ukukhuluma noma ukugwinya, okungahle kube kubi ngokuhamba kwesikhathi;
• Ukudlikizela;
• Ukwehla kancane kancane kwamandla engqondo.

Lapho kuvela izimpawu ezingakhombisa lesi sifo, noma uma kunezinye izimo emndenini, kubalulekile ukubonisana nodokotela wezinzwa noma udokotela ojwayelekile ukuze kuhlolwe ukusiza ukuqedela ukuxilongwa, njengokuhlolwa komnkantsha noma ukuhlolwa kwesikhumba, ukuqinisekisa Ukuba khona kwalesi sifo.

Yini ebangela isifo seNiemann-Pick

Isifo i-Niemann-Pick, uhlobo A nohlobo B, sivela lapho amaseli esitho esisodwa noma ngaphezulu engenayo i-enzyme eyaziwa ngokuthi i-sphingomyelinase, enesibopho sokwandisa amafutha angaphakathi kwamaseli. Ngakho-ke, uma i-enzyme ingekho, amanoni awasuswa futhi aqoqane ngaphakathi kweseli, okugcina kubhubhise iseli futhi kuphazamise ukusebenza kwesitho.

Uhlobo C lwesi sifo lwenzeka lapho umzimba ungakwazi ukusebenzisa i-cholesterol nezinye izinhlobo zamafutha, okudala ukuthi ziqoqane esibindini, ebuchosheni nasebuchosheni nokuholele ekubonakalweni kwezimpawu.

Kuzo zonke izimo, lesi sifo sibangelwa ukuguqulwa kofuzo okungadlula kusuka kubazali kuye ezinganeni, ngakho-ke, kuvame kakhulu emndenini ofanayo. Yize abazali bengenaso lesi sifo, uma kunamacala emindenini yomibili, kunamathuba angama-25% okuthi umntwana azalwe ene-Niemann-Pick syndrome.

Yelashwa kanjani

Njengoba lisekhona ikhambi lesifo se-Niemann-Pick, futhi alukho uhlobo oluthile lokwelashwa ngakho-ke, kubalulekile ukuthi ube nokuqapha okujwayelekile ngudokotela ukuthola izimpawu zakuqala ezingalashwa, ukwenza ngcono ikhwalithi yempilo .

Ngakho-ke, uma kuba nzima ukugwinya, ngokwesibonelo, kungadingeka ukugwema ukudla okunzima kakhulu futhi okuqinile, kanye nokusebenzisa i-gelatin ukwenza uketshezi lube lukhulu. Uma kunokuqubuka njalo, udokotela wakho angakunikeza umuthi we-anticonvulsant, njengeValproate noma iClonazepam.

Ukuphela kwendlela yesifo esibonakala sinomuthi okwazi ukubambezela ukukhula kwaso wuhlobo C, ngoba ucwaningo lukhombisa ukuthi i-miglustat, edayiswa njengeZavesca, ivimba ukwakheka kwamapuleti anamafutha ebuchosheni.