Yintoni isifo seNiemann-Pick, iimpawu kunye nonyango

Umxholo

• Iimpawu eziphambili
• 1. Chwetheza u-A
• 2. Uhlobo lwe-B
• 3. Uhlobo C
• Yintoni ebangela isifo seNiemann-Pick
• Unyango lwenziwa njani

Isifo se-Niemann-Pick sisifo esingaqhelekanga semfuza esibonakaliswa kukuqokelelwa kwee-macrophage, eziyizeli zegazi ezinoxanduva lokukhusela umzimba, zizele lipids kwamanye amalungu anje ngengqondo, udakada okanye isibindi, umzekelo.

Esi sifo ikakhulu sinxulumene nokusilela kwi-enzyme sphingomyelinase, enoxanduva lokwenziwa kwamafutha ngaphakathi kwiiseli, ezibangela amanqatha aqokelele ngaphakathi kwiiseli, zikhokelela kwiimpawu zesifo. Ngokwelungu elichaphazelekayo, ubuzaza bentswelo ye-enzyme kunye nobudala beempawu kunye neempawu, isifo se-Niemann-Pick sinokuhlelwa kwezinye iindidi, ezona ziphambili zezi:

• Uhlobo lwe-A, olukwabizwa ngokuba sisifo se-Niemann-Pick, loluphi olona hlobo luqatha kwaye luhlala lubonakala kwiinyanga zokuqala zobomi, ukunciphisa ukusinda ukuya kwiminyaka emi-4 ukuya kwemi-5 ubudala;
• Uhlobo lwe-B, olubizwa ngokuba yi-visceral Niemann-Pick isifo, loluphi uhlobo A olunzima kangako oluvumela ukusinda kubuntu obudala.
• Uhlobo C, ekwabizwa ngokuba sisifo esinganyangekiyo se-Niemann-Pick, loluphi uhlobo oluqhelekileyo oluqhele ukuvela ebuntwaneni, kodwa lunokuphuhla nakweyiphi na iminyaka, kwaye sisiphene se-enzyme, kubandakanya iidipozithi ezingaqhelekanga ze-cholesterol.

Akukabikho lunyango lwesifo sikaNiemann-Pick, nangona kunjalo, kubalulekile ukutyelela rhoqo kugqirha wabantwana ukuvavanya ukuba ngaba zikhona na iimpawu ezinokunyangwa, ukuphucula umgangatho wobomi bomntwana.

Iimpawu eziphambili

Iimpawu zesifo sikaNiemann-Pick ziyahluka ngohlobo lwesifo kunye namalungu achaphazelekayo, ke ezona mpawu zixhaphakileyo kuhlobo ngalunye zibandakanya:

1. Chwetheza u-A

Iimpawu zesifo sikaNiemann-Pick sesifo A esihlala sivela phakathi kweenyanga ezi-3 ukuya kwezi-6, ekuqaleni zibonakaliswa kukudumba kwesisu. Ukongeza, kunokubakho ubunzima ekukhuleni nasekufumaneni ubunzima, iingxaki zokuphefumla ezibangela ukosuleleka okuphindaphindayo kunye nokukhula kwengqondo okuqhelekileyo ukuya kuthi ga kwiinyanga ezili-12, kodwa emva koko kwehle.

2. Uhlobo lwe-B

Iimpawu zodidi B ziyafana kakhulu nezihlobo zohlobo lwesifo i-Niemann-Pick, kodwa ngokubanzi azikho qatha kwaye zinokubonakala kamva ebuntwaneni okanye ebusheni, umzekelo. Kukho ukuhlala kuncipha okanye ukungabikho kwengqondo kwaphela.

3. Uhlobo C

Iimpawu eziphambili zohlobo lwesifo se-Niemann-Pick zezi:

• Ubunzima ekuququzeleleni iintshukumo;
• Ukudumba kwesisu;
• Kunzima ukuhambisa amehlo nkqo;
• Ukwehla kwamandla emisipha;
• Iingxaki zesibindi okanye zemiphunga;
• Kunzima ukuthetha okanye ukuginya, okunokuba mandundu ngokuhamba kwexesha;
• Ukuxhuzula;
• Ukuphulukana kancinci kancinci kwengqondo.

Xa kuvela iimpawu ezinokubonisa esi sifo, okanye xa kukho ezinye iimeko kusapho, kubalulekile ukudibana noochwephesha bemithambo-luvo okanye ugqirha jikelele kuvavanyo ukunceda ukufumanisa isifo, njengokuvavanywa komongo wethambo okanye ulusu, ukuqinisekisa ubukho besifo.

Yintoni ebangela isifo seNiemann-Pick

Isifo se-Niemann-Pick, uhlobo A kunye nohlobo B, sivela xa iiseli zelungu elinye okanye nangaphezulu zingenayo i-enzyme eyaziwa ngokuba yi-sphingomyelinase, enoxanduva lokucola amafutha angaphakathi kwiiseli. Ke, ukuba i-enzyme ayikho, amanqatha awapheliswa kwaye aqokeleleka ngaphakathi kwiseli, ethi iphele itshabalalise iseli kwaye yonakalise ukusebenza komzimba.

Uhlobo C lwesi sifo lwenzeka xa umzimba ungakwazi ukucola i-cholesterol kunye nezinye iintlobo zamafutha, ezibangela ukuba ziqokelele kwisibindi, udakada kunye nengqondo kwaye zikhokelele ekubonakaleni kweempawu.

Kuzo zonke iimeko, esi sifo sibangelwa lutshintsho lwemfuza olunokudlula lusuka kubazali luye ebantwaneni kwaye, ke, luqheleke rhoqo kusapho olunye. Nangona abazali bengenaso esi sifo, ukuba ngaba zikhona iimeko kwiintsapho zombini, kukho amathuba angama-25% okuba umntwana azalwe ene-Niemann-Pick syndrome.

Unyango lwenziwa njani

Kuba ingekabikho iyeza lokunyanga isifo i-Niemann-Pick, akukho ndlela ithile yonyango kwaye ke, kubalulekile ukuba ube novavanyo rhoqo ngugqirha ukubona iimpawu zakuqala ezinokunyangwa, ukuphucula umgangatho wobomi .

Ke, ukuba kunzima ukugwinya, umzekelo, kunokuba yimfuneko ukunqanda ukutya okunzima kakhulu kwaye okuqinileyo, kunye nokusebenzisa i-gelatin ukwenza ukuba ulwelo lutyebe. Ukuba kukho ukuxhuzula rhoqo, ugqirha wakho unokumisela amayeza e-anticonvulsant, anje ngeValproate okanye iClonazepam.

Olona hlobo lwesifo olukhangeleka ngathi lunento yokulibazisa ukukhula kwalo luhlobo C, kuba izifundo zibonisa ukuba into ekuthiwa yi-miglustat, ethengiswa njenge-Zavesca, ibhloka ukwenziwa kwamacwecwe anamafutha kwingqondo.