Matenda a Niemann-Pick Ndi Chiyani?

Nthenda ya Niemann-Pick ndizosawerengeka za matenda ochizira. Pali mitundu inayi ya matendawa, yomwe ili ndi mtundu A, mtundu B, mtundu C, ndi mtundu wa D. Matenda a Niemann-Pick amachititsa matenda osiyanasiyana, ndipo nthawi zambiri amapita mofulumira. Zizindikiro ndi zotsatira za mitundu yonse ya matenda a Niemann-Pick amachokera ku mimba ya sphingomyelin, mtundu wa mafuta, m'thupi.

Mwamwayi, palibe chitsimikizo chothetsera matenda a Niemann-Pick, ndipo anthu omwe ali ndi matendawa amakumana ndi matenda aakulu ndi imfa ali aang'ono. Ngati inu kapena mwana wanu mwapezeka kuti muli ndi matenda a Niemann-Pick, mukhoza kupindula podziwa zambiri zokhudza vutoli.

Zimayambitsa

Chifukwa cha matenda a Niemann-Pick ndi ovuta. Anthu omwe ali ndi matendawa amalandira chimodzi mwa zofooka zamabanja, zomwe zimachititsa kuti sphingomyelin, mtundu wa mafuta. Pamene sphingomyelin imamangirira m'maselo a chiwindi, nthata, mafupa, kapena mitsempha, zigawozi za thupi sizingagwire ntchito momwe ziyenera kukhalira, zomwe zimayambitsa zizindikiro zina zomwe zimayendera matendawa.

Mitundu

Mitundu yosiyana ya matenda a Niemann-Pick amasiyana wina ndi mzake m'njira zosiyanasiyana.

• Zimayambitsidwa ndi zilema zosiyana siyana.
• Zilizonse zimadziwika ndi njira zosiyana siyana zomwe zimachititsa sphingomyelin kumanga.

• Sphingomyelin owonjezera amakhudza mbali zosiyanasiyana za thupi.
• Iwo amayambira pa mibadwo yosiyana.
• Zotsatira za mtundu uliwonse siziri zofanana.

Zomwe onse ali nazo ndizokuti zonsezi ndi zolakwika zomwe zimabweretsa sphingomyelin.

Pezani Chizindikiro cha Niemann

Lembani A liyamba kupanga zizindikiro kuyambira ali wakhanda ndipo limatengedwa kuti ndilo vuto lalikulu kwambiri la matenda a Niemann-Pick.

Ndi chimodzi mwa mitundu yosiyanasiyana yomwe imakhudza dongosolo la manjenje .

• Zizindikiro: Zizindikiro zimayambira pafupi zaka miyezi isanu ndi umodzi ndipo zimaphatikizapo: Kukula kwa thupi, zofooka, minofu, kuvutika kudya, kupuma komanso kuchepetsa kukula kwa malingaliro monga kukhala ndi kulankhula. Kawirikawiri, makanda a mtundu wa Niemann-Pick amayamba kawirikawiri kapena pafupifupi kawirikawiri kwa miyezi yochepa ya moyo ndikuyamba kukhala ndi zizindikiro.
• Kudziwa: Ngati mwana wanu sakukula bwino, pangakhale zifukwa zingapo zomwe zingayambitse. Ana ambiri omwe ali ndi mtundu wa Niemann-Pick amakhala ndi chiwindi chachikulu ndi chiwindi chachikulu, makilogalamu apamwamba kwambiri a cholesterol, ndi chitumbuwa chofiira cha chitumbuwa chomwe chimayang'ana pa kuyesedwa kwa diso. Zizindikirozi sizimatsimikizira kuti zimapezeka bwanji, komabe. Ngati dokotala akuganiza kuti mtundu wa Niemann-Pick A ndiye chifukwa cha zizindikiro za mwana wanu, pali mayeso angapo omwe amatsimikizira kuti ndi matendawa. Mankhwala a Sphingomyelinase amayenera kuti achepetse, ndipo msinkhu uwu ukhoza kuyeza mu maselo oyera a magazi. Palinso mayeso a majini omwe angadziwitse kuti jini sizinali zachilendo.
• Kuchiza: Ngati mwana wanu atapezeka kuti ali ndi mtundu wa Niemann-Pick, palibe mankhwala oposa chithandizo ndi chitonthozo. Tsoka ilo, ana omwe ali ndi matendawa sayembekezere kupulumuka zaka zoposa 3 kapena 4.

• Chifukwa: Niemann-Pick mtundu A amayamba chifukwa chosayenerera kwa jini wotchedwa gene SMPD1. Jini imeneyi imatulutsa sphingomyelinase, imadzimadzi amene amathyola sphingomyelin, mafuta omwe amakhalapo mkati mwa maselo a thupi. Pamene sphingomyelin silingathe kuthyoledwa monga momwe ziyenera kukhalira, maselo a thupi amadziunjikira, ndipo kupezeka kwa mafuta owonjezerawa kumaletsa ziwalo kuti zisagwire bwino ntchito.
• Genetics: Matendawa ndi autosomal recessive, kutanthauza kuti mwana ayenera kuti analandira jini kuchokera kwa makolo onse kuti matenda akule. Anthu a Ashkenazi mbadwa zachiyuda ali ndi mwayi wapadera wokhala ndi chikhalidwe ichi.

Niemann-Sankhani mtundu B

Mtundu B umayesedwa ngati mawonekedwe oopsa a matenda a Niemann-Pick kusiyana ndi mtundu A. Zimayambitsidwa ndi mtundu womwewo wa chibadwa chosabadwa, chomwe chimabweretsa kusowa kwa sphingomyelinase. Kusiyana kwakukulu pakati pa mtundu A ndi mtundu wa B ndikuti anthu omwe ali ndi mtundu B amatha kupanga sphingomyelinase kwambiri kuposa anthu omwe ali ndi mtundu A. Kusiyana kumeneku kumapangitsa kuti pasakhale sphingomyelin yochepa, yomwe ingakhale yochepa pa nthawi ya ukalamba omwe mtundu wa B umayambira, zotsatira zabwino, ndi kupulumuka kwautali. Sitifotokozera kwathunthu chifukwa chake mtundu wa A, pamene kugwiritsidwa ntchito kwa ubongo ndi wodabwitsa mwa mtundu B.

• Zizindikiro : Zizindikiro zimayambira ali wamkulu ndipo zimatha kukhala chiwindi chachikulu, nthenda yaikulu, kupuma, ndi kutuluka magazi. Akulu achikulire amakhala ndi zotsatira zabwino komanso amakhala ndi moyo wautali kusiyana ndi achikulire omwe ali ndi matendawa.
• Kuzindikira : Monga ndi mtundu wa A, Acid Sphingomyelinase yatsika m'maselo oyera a magazi, ndipo kuyesa kwa ma ARV kwa SMPD1 kukhoza kutsimikizira matendawa. Magazi a cholesterol ndi triglycerides akhoza kukwezedwa. Anthu ena omwe ali ndi mtundu wa Niemann-Pick akhoza kukhala ndi malo ofiira a chitumbuwa poyang'ana diso.
• Kuchiza : Pali mankhwala angapo kwa Niemann-Pick mtundu B, koma samachiza matenda. Izi zimaphatikizapo magazi ndi mapiritsi othandizira ndi kupuma. Kujambula kwa thupi kungathandize kupulumuka kwa nthawi yaitali ndikuchepetsa zotsatira za matendawa, komanso si mankhwala.
• Chifukwa : Niemann-Pick mtundu B imayambitsa vuto la jini la SMPD1, zomwe zimabweretsa kuchepetsa kupanga kwa Acid Sphingomyelinase, zomwe zimayambitsa sphingomyelin m'maselo, zomwe zimadodometsa ntchito za ziwalo zingapo m'thupi.
• Genetics : Mitundu yonse ya matenda a Niemann-Pick ndi ovuta kwambiri, kuphatikizapo mtundu B. Anthu ena amatha kutenga nambala ya B-Niemann-Pick, kuphatikizapo a Ashkenazi achiyuda kapena omwe akuchokera kumadera ena kumpoto kwa Africa.

Niemann-Sankhani Mtundu C

Niemann-Sankhani mtundu wa C ndiyo matenda ambiri, koma akadali osowa, ndi anthu pafupifupi 500 omwe amapezeka kumene pachaka padziko lonse.

• Zizindikiro : Zizindikiro za Niemann-Pick mtundu C zingayambe pa msinkhu uliwonse, koma zambiri zimayambira ali mwana. Zizindikiro zimaphatikizapo kuphunzira kuchedwa, kufooka kwa minofu ndi kuchepetsa kugwirizana. Mavutowa amayamba chidziwitso chomwe chimalowera kale kwa zaka zingapo. Ana omwe ali ndi mtundu wa Niemann-Pick angathenso kuyang'ana mmwamba ndi pansi ndi maso awo ndipo akhoza kupanga mtundu wa khungu la chikasu. Kulankhula ndi kuyenda kovuta kungakhalepo, komanso kusokonezeka. Minofu ndi kugunda kwa mitsempha, komanso kutayika mwadzidzidzi kwa minofu chifukwa cha kukhumudwa ndi zotsatira za ubongo.
• Kuzindikira : Ana ndi akulu omwe ali ndi mtundu wa Niemann-Pick akhoza kukhala ndi chiwindi chofutukuka, ndi nthenda yotambasula, ndi matenda a m'mapapo. Chidziwitso cha Niemann-Pick mtundu C chimadalira mbiri yachipatala ndi kuyerekezera thupi, komanso mayeso omwe amachititsa kuti mayesero amadzipangidwe, omwe amatha kuzindikira cholesterol m'maselo a khungu. Chiyeso cha majini chikhoza kuzindikira zilema za majeremusi a NPC1 ndi NPC2.
• Chithandizo : Palibe chithandizo cha mtundu wa Niemann-Pick C. Chithandizo chimayikidwa pofuna kuthetsa zizindikiro, kupatsa kupweteka, komanso kupititsa patsogolo chitonthozo.
• Chifukwa : Neimann-Pick mtundu wa C ndi wosiyana kwambiri ndi mitundu A ndi B. Pali kusowa kwa mapuloteni omwe amagwirizana ndi kusintha ndi kusinthika kwa sphingomeylin. Kulephera kwa mapuloteni kumabweretsa kuwonjezeka kwa sphingomyelin, komwe kumamanga ziwalo zambiri za thupi, kuchititsa zizindikiro.
• Genetics : Chilema cha nthenda ya NPC1 kapena ya NPC2 imayambitsa vuto la mapuloteni monga mtundu wa Niemann-Pick C. Mofanana ndi mitundu ina ya matenda a Niemann-Pick, izi ndi matenda omwe amachititsa kuti mwana kapena wamkulu ali ndi matendawa. Matenda ayenera kulandira majeremusi kwa makolo onse awiri (omwe alibe matendawo).

Sakanizani Dem Type

Izi zimayesedwa kuti ndizofanana ndi mtundu wa C. Zidali zozindikiridwa ndi anthu aang'ono ku Nova Scotia, ndipo zimaganizira kuti ndizosiyana ndi matenda a Niemann-Pick, koma kuyambira nthawi imeneyo, Matenda omwewo ndi chibadwa cha mtundu wa Niemann-Pick C.

Kafukufuku

Pali kafukufuku wopitilira momwe mungapezere mankhwala pa matenda a Niemann-Pick. Kusintha kwa mavitamini osakwanira kwawerengedwa. Pakali pano, mtundu uwu wa mankhwala umapezeka pokhapokha ngati akulembetsa mu mayesero a zachipatala. Mungapeze zambiri zokhuza momwe mungapangire nawo mayesero a kuchipatala mwa kufunsa dokotala wanu kapena kulankhulana ndi mabungwe omwe akuthandizira ndi a Niemann-Pick.

Mawu Ochokera

Matenda a Niemann-Pick amachititsa zizindikiro zambiri zomwe zimalepheretsa kukhala ndi moyo wamba, ndipo zimabweretsa mavuto aakulu, ululu ndi kulemala. Ndizovuta kwambiri kwa banja lonse pamene matenda aakuluwa amakhala gawo la moyo wanu.

Ngati inu kapena mwana wanu mwapezeka ndi matenda a Niemann-Pick, kuvutika kwa moyo wanu wonse kumatanthauza kuti banja lanu liyenera kupeza chithandizo cholimbikitsana, ndi akatswiri osiyanasiyana kuti apereke chisamaliro chokwanira. Chifukwa ndi matenda osowa kwambiri, mungafunikire kufufuza kuti mupeze akatswiri omwe ali ndi zodziŵika bwino popereka chithandizo chimene mukufuna.

> Chitsime:

> Schuchman EH, Desnick RJ. Mitundu A ndi B Niemann-Pick. Mol Genet Metab. 2017; 120 (1-2): 27-33.