Kodi mukudziwa za matenda a Niemann-Pick? Tiyeni tikambirane za matenda osowa awa!

Kodi mudamvapo za matenda otchedwa Niemann-Pick Disease? Mwina dzinali ndi latsopano kwa inu. Ndi matenda osowa kwambiri, omwe amapezeka m'mabanja. Amayambitsa zinthu zofunika m'thupi lathu, makamaka mafuta m'thupi, kuti zichuluke kwambiri. Ndiye tiyeni tikambirane za matendawa lero, sichoncho?

Kodi Matenda a Niemann-Pick ndi chiyani?

Mwachidule, matenda a Niemann-Pick ndi matenda omwe mafuta, monga mafuta, mafuta acid, ndi cholesterol, amasonkhana m'maselo athu m'malo mosweka bwino ndikusandulika mphamvu. Izi ndi matenda obadwa nawo a kagayidwe kachakudya , zomwe zikutanthauza kuti amatha kuperekedwa kuchokera kwa makolo kupita kwa ana. Mwanjira imeneyi, mafuta owopsa amasonkhana m'malo monga ubongo, ndulu, chiwindi, mapapo, ndi m'mafupa.

Kodi zizindikiro zofala za matendawa ndi ziti?

Mafuta akamaunjikana motere, zizindikiro zosiyanasiyana zimatha kuchitika. Anthu ena amakumana ndi mavuto okhudzana ndi dongosolo la mitsempha.

• Ataxia: Uku ndi kulephera kulamulira minofu panthawi yoyenda mwadala, mwachitsanzo, poyenda.
• Kuchepa kwa mphamvu ya minofu.
• Kuchepa pang'onopang'ono kwa ntchito ya ubongo.
• Kukhudzidwa kwambiri ndi kukhudza.
• Kupindika: Izi zikutanthauza kuti minofu imakhala yolimba ndipo imayenda molakwika.
• Kukhumudwa polankhula.

Kuphatikiza apo, pakhoza kukhala vuto la kudya ndi kumeza, kufooka kwa maso, mavuto ophunzirira, komanso kukula kwa chiwindi ndi ndulu. Nthawi zina, pakhoza kukhala mdima pa cornea ndi kuwala kofiira pakati pa retina.

Kodi pali mitundu ikuluikulu ya matenda a Niemann-Pick?

Inde, pali mitundu itatu ikuluikulu ya matendawa: mitundu A, B, ndi C.

Mtundu A:

Uwu ndiye mtundu woopsa kwambiri wa matendawa. Nthawi zambiri umakhudza makanda aang'ono, nthawi zambiri asanakwanitse miyezi ingapo . Umapezeka kwambiri m'mabanja achiyuda.

• Zizindikiro zake ndi kutaya chidziwitso pang'onopang'ono.
• Chiwindi ndi ndulu zimakula.
• Ma lymph nodes atupa.
• Pofika miyezi isanu ndi umodzi, ubongo ukhoza kuwonongeka kwambiri .

Mwatsoka, makanda a mtundu wa A amenewa nthawi zambiri amakhala ndi moyo wopitirira miyezi 18.

Mtundu B:

Izi nthawi zambiri zimachitika ali mwana, pafupifupi zaka khumi kapena khumi ndi ziwiri .

• Anthuwa amathanso kukhala ndi zizindikiro monga ataxia ndi peripheral neuropathy.
• Koma nthawi zambiri, sizimakhudza kwambiri ubongo.
• Anthuwa angakumanenso ndi mavuto a chiwindi ndi ndulu komanso mapapo.

Zifukwa za mitundu yonse ya A ndi B:

Chifukwa chachikulu cha kukula kwa mitundu iwiriyi ndichakuti enzyme yotchedwa sphingomyelinase , yomwe imathandiza kuswa mafuta otchedwa sphingomyelin, omwe amapezeka mu selo iliyonse ya thupi lathu, sagwira ntchito mokwanira. Chifukwa chake, mafuta otchedwa sphingomyelin amasonkhana m'maselo ndi poizoni wambiri.

Mtundu C:

Mtundu uwu ungayambe ali mwana, kapena ungawonekere paunyamata kapena uchikulire .

• Izi zimachitika chifukwa cha kusowa kwa mapuloteni awiri otchedwa NPC1 kapena NPC2 .
• Anthu amenewa akhoza kuvulala kwambiri muubongo, zomwe zingayambitse kuvutika kuyang'ana mmwamba ndi pansi, kuvutika kuyenda ndi kumeza, komanso kutayika pang'onopang'ono kwa maso ndi kumva.
• Chiwindi ndi ndulu zimathanso kukulirakulira pang'ono.
• Kale, anthu a mtundu C uwu, omwe anali ndi makolo ofanana m'dera lotchedwa Nova Scotia, ankatchedwanso mtundu D. Koma tsopano uli pansi pa mtundu C.

Kodi pali mankhwala a izi?

Ndipotu, palibe mankhwala a matenda a Niemann-Pick. Pakadali pano, pali mankhwala othandizira okha omwe amaletsa zizindikiro ndikupereka mpumulo. Nthawi zambiri, ana awa amatha kutaya miyoyo yawo chifukwa cha matenda kapena kufooka pang'onopang'ono kwa mitsempha.

• Pakadali pano palibe mankhwala othandiza kwa anthu omwe ali ndi mtundu wa A.
• Anthu ena omwe ali ndi mtundu wa B adasamutsidwa mafupa . Ofufuza amakhulupiriranso kuti zinthu monga mankhwala obwezeretsa ma enzyme ndi ma gene therapy zingakhale zothandiza kwa anthu omwe ali ndi mtundu wa B mtsogolo.
• Kulamulira zomwe mumadya ndi kumwa sikungalepheretse mitundu iyi ya mafuta kuti isasonkhanitsidwe m'maselo ndi minofu.

Kodi tsogolo la matendawa ndi lotani?

Tsogolo la matendawa, kutanthauza kuti, nthawi yomwe wodwalayo angakhale ndi moyo komanso momwe moyo wake udzakhala, zimasiyana malinga ndi mtundu wa matenda.

• Makanda omwe ali ndi mtundu wa A , monga tafotokozera kale, amafa ali akhanda .
• Ana omwe ali ndi mtundu wa B akhoza kukhala ndi moyo wautali pang'ono kuposa ena, koma angafunike kupatsidwa mpweya wowonjezera chifukwa cha zotsatira zake pa mapapo.
• Moyo wa anthu omwe ali ndi mtundu wa C umasiyana. Anthu ena amatha kufa ali ana, koma ena omwe ali ndi zizindikiro zochepa amatha kukhala ndi moyo mpaka atakula .

Ndi kafukufuku watsopano uti womwe ukuchitika pa izi?

Kafukufuku wokhudza matenda a Niemann-Pick akuchitika m'madera osiyanasiyana padziko lonse lapansi, makamaka ku National Institute of Neurological Disorders and Stroke (NINDS) ku United States, komansoMabungwe monga National Institutes of Health (NIH) akutsogolera pankhaniyi.

• Akhala akufufuza majini omwe amathandizira kukula kwa matendawa. Mwachitsanzo, apeza majini awiri olakwika (NPC1 ndi NPC2) omwe amayambitsa mtundu wa Niemann-Pick C.
• Asayansi akufufuzanso njira zomwe mafuta ambiri amawonongera thupi.
• Kafukufuku akuchitikanso kuti apeze zizindikiro za biomarkers , kapena zizindikiro zomwe zimasonyeza kukhalapo kwa matenda, zomwe zingathandize kuzindikira matenda osungira mafuta m'thupi msanga. Tikukhulupirira kuti izi zithandiza kupeza bwino matenda.

Pomaliza, muyenera kunena...

Chabwino, ndikukhulupirira kuti muli ndi lingaliro kuchokera pa zomwe takambirana zokhudza Matenda a Niemann-Pick.

Kumbukirani izi: Matenda a Niemann-Pick ndi matenda osowa kwambiri, obadwa nawo m'majini omwe amayambitsa kusonkhanitsa mafuta m'thupi molakwika.

• Pali mitundu itatu ikuluikulu ya matendawa, A, B, ndi C , iliyonse ili ndi zizindikiro zosiyana komanso kuopsa kwake.
• Mtundu A ndi woopsa kwambiri ndipo umakhudza makanda aang'ono. Mtundu B ukhoza kuonekera ali ana, ndipo mtundu C ukhoza kuonekera pa msinkhu uliwonse.
• Palibe mankhwala athunthu a izi , koma chithandizo chothandizira chokhacho chomwe chimawongolera zizindikiro.
• Koma kafukufuku akupitilizabe kupeza njira zatsopano zochiritsira.
• Ngati wina m'banja mwanu ali ndi zizindikiro izi, kapena ngati mukufuna kudziwa zambiri za matendawa, ndi bwino kuonana ndi katswiri kuti akupatseni upangiri . Muthanso kuyang'ana magulu othandizira ndi mabungwe omwe amathandiza anthu omwe ali ndi matenda osowa awa komanso mabanja awo.

Tikukhulupirira kuti izi zikuthandizani. Khalani ndi thanzi labwino!

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