Kodi Niemann-Pick matenda, zizindikiro ndi chithandizo

Zamkati

• Zizindikiro zazikulu
• 1. Lembani A
• 2. Lembani B
• 3. Mtundu C
• Zomwe zimayambitsa matenda a Niemann-Pick
• Momwe mankhwalawa amachitikira

Matenda a Niemann-Pick ndimatenda achilendo omwe amadziwika ndi kuchuluka kwa ma macrophages, omwe ndi maselo amwazi omwe amateteza chamoyo, chodzaza ndi lipids m'ziwalo zina monga ubongo, ndulu kapena chiwindi, mwachitsanzo.

Matendawa makamaka amakhudzana ndi kuchepa kwa enzyme sphingomyelinase, yomwe imayambitsa kuchepa kwa mafuta mkati mwa ma cell, zomwe zimapangitsa mafuta kudzikundikira mkati mwa maselo, zomwe zimapangitsa zizindikilo za matendawa. Malinga ndi chiwalo chomwe chakhudzidwa, kuopsa kwa kuchepa kwa michere komanso msinkhu wazizindikiro, Niemann-Pick matenda amatha kugawidwa m'mitundu ina, yayikulu ndiyo:

• Type A, yotchedwanso pachimake neuropathic Niemann-Pick matenda, womwe ndi mtundu wovuta kwambiri ndipo nthawi zambiri umawonekera m'miyezi yoyamba ya moyo, ndikuchepetsa kupulumuka mpaka zaka zapakati pa 4 mpaka 5;
• Mtundu B, womwe umatchedwanso kuti visceral Niemann-Pick matenda, womwe ndi mtundu wochepa kwambiri wa A womwe umalola kupulumuka kufikira munthu wamkulu.
• Mtundu C, womwe umatchedwanso matenda achilengedwe a Niemann-Pick, womwe ndi mtundu wofala kwambiri womwe umawoneka ubwana, koma umatha kukula msinkhu uliwonse, ndipo ndi vuto la enzyme, lomwe limakhudzana ndi kuchuluka kwa cholesterol.

Palibe machiritso ku matenda a Niemann-Pick, komabe, ndikofunikira kupita pafupipafupi kwa ana kuti mukaone ngati pali zizindikilo zilizonse zomwe zitha kuchiritsidwa, kuti mwana akhale ndi moyo wabwino.

Zizindikiro zazikulu

Zizindikiro za matenda a Niemann-Pick zimasiyana kutengera mtundu wamatenda ndi ziwalo zomwe zakhudzidwa, motero zizindikilo zofala kwambiri pamtundu uliwonse ndi izi:

1. Lembani A

Zizindikiro za matenda a Niemann-Pick mtundu A nthawi zambiri zimawoneka pakati pa miyezi 3 ndi 6, poyambirira amadziwika ndi kutupa kwa m'mimba. Kuphatikiza apo, pakhoza kukhala zovuta kukulira ndikulemera, mavuto ampweya omwe amayambitsa matenda obwerezabwereza komanso kukula kwamaganizidwe mpaka miyezi 12, koma omwe amawonongeka.

2. Lembani B

Zizindikiro zamtundu wa B ndizofanana kwambiri ndi matenda amtundu wa A Niemann-Pick, koma nthawi zambiri amakhala ocheperako ndipo amatha kuwonekera ali mwana kapena ngati akukula. Nthawi zambiri pamakhala kuchepa pang'ono kapena kulibiretu malingaliro.

3. Mtundu C

Zizindikiro zazikulu za matenda a mtundu wa C Niemann-Pick ndi awa:

• Zovuta pakukonza mayendedwe;
• Kutupa kwa m'mimba;
• Zovuta kusuntha maso anu molunjika;
• Kuchepetsa mphamvu ya minofu;
• Mavuto a chiwindi kapena m'mapapo;
• Kuvuta kuyankhula kapena kumeza, komwe kumatha kuwonjezereka pakapita nthawi;
• Kupweteka;
• Kutha pang'onopang'ono kwa mphamvu zamaganizidwe.

Pakakhala zizindikiro zomwe zitha kuwonetsa matendawa, kapena pakakhala zovuta zina m'banjamo, ndikofunikira kukaonana ndi wazachipatala kapena dokotala wamkulu kuti akayese kuti athe kumaliza matendawa, monga kuyezetsa m'mafupa kapena khungu, kuti atsimikizire kupezeka kwa matenda.

Zomwe zimayambitsa matenda a Niemann-Pick

Matenda a Niemann-Pick, amtundu wa A ndi mtundu B, amapezeka ngati maselo a chiwalo chimodzi kapena zingapo alibe enzyme yotchedwa sphingomyelinase, yomwe imayambitsa kupukusa mafuta omwe ali mkati mwa maselo. Chifukwa chake, ngati enzyme kulibe, mafuta samachotsedwa ndipo amadzikundikira mkati mwa selo, zomwe zimathera pakuwononga selo ndikuwononga kugwira ntchito kwa chiwalo.

Mtundu C wa matendawa umachitika pomwe thupi silimatha kugaya mafuta amtundu wa cholesterol ndi mitundu ina yamafuta, yomwe imawapangitsa kudzikundikira m'chiwindi, ndulu ndi ubongo ndikubweretsa kuwonekera kwa zizindikilo.

Nthawi zonse, matendawa amayamba chifukwa cha kusintha kwa majini komwe kumatha kuchokera kwa makolo kupita kwa ana, chifukwa chake, kumachitika kawirikawiri m'banja limodzi. Ngakhale makolo sangakhale ndi matendawa, ngati pali zochitika m'mabanja onsewa, pali 25% mwayi woti mwanayo abadwe ndi Niemann-Pick syndrome.

Momwe mankhwalawa amachitikira

Popeza kulibe mankhwala a Niemann-Pick, palibenso mtundu wina uliwonse wamankhwala, chifukwa chake, ndikofunikira kuyang'anira pafupipafupi ndi dokotala kuti adziwe zizindikiritso zoyambirira zomwe zitha kuchiritsidwa, kuti moyo ukhale wabwino .

Chifukwa chake, ngati zimakhala zovuta kumeza, mwachitsanzo, kungakhale kofunikira kupewa zakudya zolimba komanso zolimba, komanso kugwiritsa ntchito gelatin kuti zamadzimadzi zikhale zolimba. Ngati pali khunyu pafupipafupi, dokotala akhoza kukupatsani mankhwala a anticonvulsant, monga Valproate kapena Clonazepam.

Mtundu wokhawo wamatenda omwe akuwoneka kuti ali ndi mankhwala omwe amatha kuchedwetsa kukula kwake ndi mtundu wa C, popeza kafukufuku akuwonetsa kuti mankhwalawa miglustat, ogulitsidwa ngati Zavesca, amaletsa mapangidwe azikwangwani zamafuta muubongo.