Kodi mimba ya mwana wanu ikuwoneka yotupa pang'ono? Kapena mumamva ngati mwana wanu sakukula bwino malinga ndi msinkhu wake? Nthawi zina zinthuzi zimakhala zachilendo. Koma nthawi zambiri, zimatha kuchitika chifukwa cha matenda osowa majini omwe sitinamvepo. Lero, tikulankhula za Matenda a Niemann-Pick, omwe ndi amodzi mwa matenda osowa. Musachite mantha mukamva dzinali. Tiyeni tikambirane za izi m'njira yosavuta yomwe mungamvetse.
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Kodi matenda a Niemann-Pick ndi chiyani?
Mwachidule, matenda a Niemann-Pick ndi matenda obadwa nawo omwe amayamba chifukwa cha kuchulukana kosafunikira kwa mafuta, kapena mafuta, mkati mwa maselo a thupi lathu.
Tsopano mwina mukudabwa kuti, "Kodi mafuta awa ndi chiyani? Chifukwa chiyani amasonkhana?" Tiyeni tifotokoze motere.
Taganizirani za selo lililonse m'thupi lathu ngati fakitale yaying'ono. Fakitale iyi imafuna mphamvu kuti igwire ntchito. Mphamvu imeneyo imachokera ku chakudya chomwe timadya. Mafuta (lipids) ndi mapuloteni omwe ali muzakudya izi amagawidwa m'zidutswa zazing'ono mkati mwa maselo athu ndipo amagwiritsidwa ntchito popanga mphamvu. Kuphatikiza apo, mafuta awa (monga cholesterol ndi mafuta) amafunikanso pa ntchito zambiri zofunika, monga kumanga makoma a maselo athu ndikupanga mahomoni.
Kawirikawiri, m'thupi la munthu wathanzi, mafuta awa akatha, kapena ngati alipo ambiri, pamakhala ma enzyme apadera oti awaswe ndikuchotsa m'thupi. Monga momwe zimakhalira ndi dongosolo lomwe limachotsa zinyalala kuchokera ku fakitale ikatha kugwira ntchito.
Koma mwa munthu amene ali ndi matenda a Niemann-Pick, pali vuto la majini pakupanga ma enzyme kapena mapuloteni omwe amaphwanya mafuta omwe ndatchulawa. Zotsatira zake, mafuta osagwiritsidwa ntchito komanso osafunikira amayamba kusonkhana mkati mwa maselo. Zili ngati mulu wa zinyalala mufakitale yokhala ndi makina otayira zinyalala osweka.
Mwanjira imeneyi, mafuta samangodziunjikira pamalo amodzi.
- Ubongo
- Chiwindi
- Nkhumba
- Mapapu
- Mafupa
Izi zimasonkhana mkati mwa maselo a ziwalo zofunika monga mtima. Pakapita nthawi, mafuta amenewa amasonkhana ndipo amalepheretsa ziwalozo kugwira ntchito bwino. Pamenepo ndi pomwe zizindikiro zimayamba kuonekera.
Kodi zizindikiro zazikulu za matendawa ndi ziti?
Zizindikiro zimatha kusiyana malinga ndi chiwalo chomwe mafuta awa amaikidwa. Zizindikiro zimasiyananso malinga ndi mtundu wa matenda. Komabe, pali zizindikiro zingapo zodziwika bwino.
Zizindikiro za Mitsempha
Zizindikiro izi zimawonekera pamene mafuta amasungidwa mu maselo a ubongo.
- Ataxia: Iyi ndi vuto lomwe minofu ya thupi silingathe kulamulira mayendedwe olakwika, monga kuyenda kapena kufikira chinthu china. Thupi limakhala losakhazikika komanso losakhazikika.
- Kufooka kwa minofu:Thupi limakhala lopanda moyo, ndipo minofu imachepa.
- Kupindika: Nthawi zina minofu imakhala yolimba ndipo imatha kugwedezeka. Kusuntha kumakhala kovuta kwambiri.
- Kuvuta kulankhula: Kulankhula mopanda nzeru, kulephera kulankhula momveka bwino.
- Kuchepa pang'onopang'ono kwa ntchito ya ubongo: Zinthu monga kukumbukira ndi luso lophunzira zimatha kuchepa pakapita nthawi.
Zizindikiro zokhudzana ndi ziwalo zina za thupi
- Kutupa kwa chiwindi ndi ndulu: Ichi nthawi zambiri chimakhala chimodzi mwa zizindikiro zoyamba kuwoneka. Ziwalo ziwirizi zimakula chifukwa cha mafuta omwe amalowa m'thupi. Izi zimapangitsa kuti mimba ya mwana ituluke patsogolo ndikuyamba kutupa.
- Kuvuta kumeza ndi kumwa: Matendawa amakhudza makamaka ana aang'ono.
- Kusintha kwa kayendedwe ka maso: Kungakhale kovuta kuyang'ana mmwamba ndi pansi.
- Kusintha kwa cornea: Kornea ikhoza kukhala ndi mitambo.
- Dothi lofiira ngati chitumbuwa: Ichi ndi chizindikiro chenicheni. Dokotala akamafufuza diso, amatha kuona dothi lofiira lomwe limaoneka ngati chitumbuwa pakati pa retina. Izi sizichitika kwa aliyense, koma odwala ena amatero.
Chofunika kwambiri ndichakuti zizindikirozi zisawonekere mwadzidzidzi. Zimayamba pang'onopang'ono, pang'onopang'ono. Chifukwa chake, ngati muli ndi kukayikira kulikonse, ndikofunikira kwambiri kupita kwa dokotala wodziwa bwino ntchito mwamsanga ndikupempha upangiri.
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Check Availability →Pali mitundu itatu ikuluikulu ya matendawa.
Matenda a Niemann-Pick si ofanana. Pali mitundu itatu ikuluikulu (ndipo ina m'magulu ena). Mtundu uliwonse uli ndi zifukwa zosiyanasiyana, zizindikiro, ndi momwe matendawa amayambira. Tiyeni tigwiritse ntchito tebulo kuti timvetse kusiyana kwake.
| Mtundu wa matenda | Zinthu zazikulu ndi chilengedwe | Chifukwa |
|---|---|---|
| Mtundu A |
| Kusagwira bwino ntchito kwa enzyme ya sphingomyelinase. Enzyme iyi imaphwanya lipid sphingomyelin. |
| Mtundu B | Choyambitsa chake ndi chimodzimodzi ndi mtundu wa A. Izi zikutanthauza kuti, ntchito ya enzyme ya sphingomyelinase imachepa. Komabe, pankhaniyi, poyerekeza ndi mtundu wa A, ntchito ina ya enzyme imatsala. | |
| Mtundu C | Choyambitsa si enzyme. Ndi kusowa kwa imodzi mwa mapuloteni awiri otchedwa NPC1 kapena NPC2. Mapuloteni awa amanyamula cholesterol ndi mafuta ena mkati mwa maselo. |
Chidziwitso chaching'ono chokhudza mtundu D
Kale, odwala omwe ali ndi mtundu wa C, omwe adachokera kwa kholo limodzi m'chigawo cha Nova Scotia ku Canada, ankatchedwa mtundu wa D. Koma tsopano tikudziwa kuti ndi vuto lomwe limagwirizana ndi mtundu wa C, ndipo limayamba chifukwa cha vuto linalake mu jini la NPC1.
Kodi pali mankhwala a izi?
Kudziwa yankho la funsoli n'kofunika kwambiri kwa inu ndi aliyense. Kunena zoona, mpaka pano, palibe mankhwala a matenda a Niemann-Pick.
Ndiye madokotala amachita chiyani?
Mankhwala omwe alipo panopa ndi othandizira . Izi zikutanthauza kuti, ngakhale matendawa sangachiritsidwe, amawongolera zizindikiro, amapatsa wodwalayo chitonthozo chokwanira, komanso amathandiza kuti moyo ukhale wosavuta.
- Chitetezo ku matenda: Odwala awa, makamaka ana, amakhala ndi matenda pafupipafupi. Chifukwa chake, ndikofunikira kwambiri kuwateteza ku matenda monga chibayo.
- Zakudya: Ana omwe akuvutika kumeza angafunike kudyetsedwa kudzera mu chubu chodyetsera.
- Physiotherapy: Kuchita masewera olimbitsa thupi ndi mankhwala ochiritsira thupi kungathandize kuchepetsa kuuma kwa minofu (kupindika) ndikusunga mafupa akugwira ntchito bwino.
- Chithandizo cha mavuto opuma: Ngati mapapo akhudzidwa, monga momwe zilili ndi odwala a mtundu wa B, mpweya wowonjezera ungafunike.
Mankhwala oyesera
- Kusamutsa mafupa: Izi zayesedwa mwa odwala ochepa omwe ali ndi mtundu wa B, koma si chithandizo chokhazikika.
- Chithandizo chobwezeretsa ma enzyme ndi chithandizo cha majini: Asayansi akuyembekeza kuti chithandizochi chidzakhala chothandiza kwa odwala amtundu wa B mtsogolo, koma izi zikadali mu gawo lofufuza.
Anthu ambiri amaganiza kuti powongolera zakudya zawo ndikuchepetsa kudya zakudya zamafuta, amatha kuletsa kuchulukana kwa mafuta amenewa. Koma zoona zake n'zakuti, kusintha zakudya zawo sikungalepheretse kuchulukana kwa mafuta mkati mwa maselo. Chifukwa vuto silili m'mafuta omwe amadyedwa kuchokera kunja, koma m'njira yomwe imachitika mkati mwa maselo chifukwa cha vuto la majini m'thupi.
Kodi munganene chiyani za tsogolo? (Zomwe zidzachitike mtsogolo)
Nkhani imeneyi ndi yovuta kwambiri kuikambirana. Tsogolo la wodwala, kapena kuti nthawi yake yoti apeze matenda, limadalira mtundu wa matendawo.
- Mtundu A: Monga tanenera kale, uwu ndi mtundu woopsa kwambiri. Makanda omwe ali ndi vutoli nthawi zambiri amamwalira ali aang'ono, asanakwanitse zaka 2-3, chifukwa cha matenda kapena kusokonekera kwa dongosolo la mitsempha.
- Mtundu B: Odwalawa amatha kukhala ndi moyo wautali. Ena amakhala ndi moyo mpaka atakula. Komabe, chifukwa cha kuwonongeka kwa mapapo, angafunike kuyang'aniridwa ndi dokotala kwa moyo wawo wonse komanso nthawi zina thandizo la mpweya.
- Mtundu C:N'zovuta kwambiri kuneneratu tsogolo la matendawa, chifukwa zaka zomwe zizindikiro zimawonekera komanso momwe matendawa amayambira zimasiyana kwambiri malinga ndi munthu aliyense. Ana ena amamwalira ali aang'ono, pomwe omwe ali ndi zizindikiro zoyamba mochedwa komanso milandu yochepa kwambiri amatha kukhala ndi moyo mpaka atakula.
Uthenga Wopita Nawo Kunyumba
- Matenda a Niemann-Pick ndi matenda osowa kwambiri, obadwa nawo m'majini omwe amachititsa kuti mafuta azichulukana m'maselo a thupi.
- Pali mitundu itatu ikuluikulu ya izi (A, B, ndi C). Mtundu A ndi woopsa kwambiri. Mtundu B umakhudza kwambiri mapapo ndi chiwindi, pomwe mtundu C umakhudza kwambiri mitsempha.
- Zizindikiro monga kutupa m'mimba (chiwindi/ndulu yokulirapo), kuvutika kuyenda, ndi kukula movutikira zimatha kuoneka poyamba.
- Palibe mankhwala a matendawa pakadali pano. Chomwe chachitika ndikungoletsa zizindikiro zake ndikupatsa wodwalayo mpumulo.
- Ngati mukukayikira kuti mwana wanu ali ndi zizindikiro izi, musachite mantha ndipo pitani kwa dokotala wa ana kapena dokotala wina mwamsanga.
- Kafukufuku wa matenda osowa ngati awa akuchitika padziko lonse lapansi. Tiyeni tonse tiyembekezere kuti mankhwala abwino adzapezeka mtsogolo.
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