Kodi poizoni akusonkhana m'maselo anu? Nkhaniyi ikunena za matenda osungira a Lysosomal!

Kodi mudamvapo za Lysosomal Storage Diseases, kapena LSDs? Izi sizichitika kawirikawiri, zomwe zikutanthauza kuti anthu ambiri sazipeza, matenda a majini. Mwachidule, matendawa amayambitsa zinthu zosafunikira, zomwe zingakhale zapoizoni kuti ziunjikane m'maselo a thupi lathu. Tiyeni tikambirane za izi mwatsatanetsatane lero, sichoncho?

Kodi ma enzyme ndi ma lysosome ndi chiyani? Kodi amagwira ntchito bwanji?

Tangoganizani kuti selo lililonse m'thupi lanu lili ngati fakitale yaying'ono. M'mafakitale awa, muli dipatimenti yapadera yotchedwa 'Lysosome'. Ma lysosome awa amagwira ntchito ngati chotsukira m'nyumba mwathu. Kuti awathandize kugwira ntchito imeneyi bwino, ali ndi antchito apadera otchedwa 'Enzymes'. Ma enzyme awa ndi zinthu zosiyanasiyana zomwe zimalowa m'maselo athu, mwachitsanzo:

• Chakudya (zinthu monga ulusi, wowuma, ndi shuga)
• Mafuta (mitundu ya mafuta)
• Mapuloteni
• Ziwalo zakale za maselo zopanda ntchito

Zimathandiza kuswa, kuswa, ndi kugaya zinthu ngati zimenezo. Timatcha njira imeneyi kagayidwe kachakudya . Chifukwa chake, ma enzyme ndi ma lysosome amenewa amagwira ntchito limodzi kuti maselo athu akhale oyera komanso athanzi.

Nanga chimachitika ndi chiyani mu matenda osungira a lysosomal (LSDs)?

Tsopano taganizirani wantchito wapadera mu dipatimenti yoyeretsa fakitale yomwe tayitchula kale, chimachitika ndi chiyani ngati enzyme inayake sikugwira ntchito bwino, kapena ngati enzymeyo palibe? Pamenepo ndi pomwe vuto limayamba.

Ndicho chimene chimachitika m'thupi la munthu amene ali ndi matenda osungira lysosomal (LSD). Alibe enzyme inayake, kapena china chake chomwe chimathandiza kuti enzymeyo igwire ntchito (enzyme activator kapena modifier). Kenako, ma lysosome amenewo sangathe kuswa bwino zinthu monga mafuta ndi shuga zomwe amafunika kuswa.

Ndiye chimachitika ndi chiyani? Zinthu zosasweka izi zimayamba kusonkhana mkati mwa maselo. Zimakhala ngati mulu wa zinyalala. Pakapita nthawi, zinthuzi zimakhala poizoni ndikuwononga maselo. Kuwonongeka kumeneku kumatha kufalikira ndikukhudza ziwalo zosiyanasiyana m'thupi lathu. Mwachitsanzo:

• Ubongo
• Dongosolo Lapakati Lamitsempha
• Mtima
• Dongosolo la Chigoba
• Khungu

Izi ndi zomwe zimachitika mu matenda osungira a lysosomal (LSD), mwachidule.

Kodi pali mitundu ya matenda osungira a lysosomal (LSDs)?

Inde, mpaka pano, ofufuza apeza mitundu yoposa 50 ya matenda osungira a lysosomal (LSDs). Mitundu yatsopano ikupezedwabe. N'zovuta kwambiri, sichoncho?

Kawirikawiri, matenda amenewa akhoza kugawidwa m'magulu atatu akuluakulu kutengera ndi enzyme yomwe ilibe.

Mafuta ochulukirapo m'thupi

Matenda amtundu uwu amapezeka pamene thupi likusowa enzyme yofunikira kuti ligaye mafuta (lipids). Zitsanzo zina ndi izi:

• Matenda Osungira Cholesteryl Ester
• Matenda a Wolman

Mucopolysaccharidoses

Izi zimachitika pamene enzyme yomwe imafunika kuphwanya glycosaminoglycans, mtundu wa molekyulu yovuta ya shuga, ikusowa. Zitsanzo zikuphatikizapo:

• Matenda a Hunter
• Matenda a Hurler

Sphingolipidosis

Mtundu uwu umachitika pamene pali kusowa kwa enzyme yomwe imaphwanya mtundu wapadera wa mafuta wotchedwa sphingolipids . Ma sphingolipids awa ndi zinthu zomwe zimagwira ntchito zapadera, monga kuteteza pamwamba pa maselo athu. Matenda ena omwe ali mgululi ndi awa:

• Matenda a Fabry
• Matenda a Gaucher
• Matenda a Krabbe / Globoid Cell Leukodystrophy
• Leukodystrophy ya Metachromatic
• Matenda a Niemann-Pick (NP)
• Matenda a Sandhoff
• Matenda a Tay-Sachs

Mitundu ina ya LSD

Kuwonjezera pa magulu akuluakulu awa, palinso mitundu ina ya ma LSD. Mwachitsanzo:

• Matenda a Batten
• Cystinosis
• Matenda a Danon
• Matenda a Pompe

Mukuona, matenda onsewa amayamba chifukwa cha kusowa kwa enzyme inayake. Matendawa ndi zotsatira zake zimasiyana malinga ndi enzyme yomwe ilibe.

Ndani angadwale matenda osungira a lysosomal (LSDs)? Kodi ndi ofala bwanji?

Ndipotu, aliyense akhoza kudwala matenda osungira lysosomal (LSD). Komabe, mafuko ndi madera ena ali ndi mwayi waukulu wokhala ndi matendawa. Mwachitsanzo, mitundu ina ya ma LSD ndi yofala kwambiri kwa Ayuda aku Eastern Europe komanso kwa anthu aku Finland.

Matendawa ndi ofala kwambiri moti munthu m'modzi yekha pa anthu 40,000 mpaka 60,000 ali ndi LSD. Izi zikutanthauza kuti awa ndi magulu osowa kwambiri a matenda. Ndicho chifukwa chake anthu ambiri sanamvepo za iwo.

Kodi n’chiyani chimayambitsa matenda osungira lysosomal (LSDs)?

Matenda osungira a Lysosomal (LSDs) ndi matenda obadwa nawo a kagayidwe kachakudya omwe amapezeka kuyambira kubadwa ndipo amayamba chifukwa cha majini . Kunena zoona, ambiri mwa awa amapatsiridwa kuchokera ku mibadwomibadwo ngati ' Autosomal Recessive Disorders' .

Tsopano mwina mukudabwa tanthauzo la 'auto-retard'. Mwachidule, zili motere:

Kawirikawiri, timapeza kopi imodzi ya jini iliyonse kuchokera kwa kholo lililonse. Kuti tipange LSD,Mwanayo ayenera kulandira kopi yosinthidwa ya jini ya matendawa kuchokera kwa mayi ndi bambo. Chofunika ndichakuti makolo awa ndi omwe amanyamula jini yosinthidwa. Izi zikutanthauza kuti alibe LSD, koma ali ndi jini yomwe ingayambitse matendawa.

Choncho, ngati makolo onse awiri ali ndi kachilombo ka HIV, nayi mwayi wokhala ndi mwana:

• Pali mwayi wa 25% (1 mwa 4) kuti mwana akhale wathanzi popanda kulandira majini osinthidwa.
• Pali mwayi wa 25% (1 mwa 4) kuti mwana adzakhale ndi LSD (ngati adzalandira jini yosinthidwa kuchokera kwa makolo onse awiri).
• Pali mwayi wa 50% (1 mwa awiri) kuti mwana akhale ndi zizindikiro, monga momwe makolo amachitira (ngati alandira jini yosinthidwayo kuchokera kwa kholo limodzi lokha).

Kodi mukumvetsa? Izi zingawoneke ngati zovuta pang'ono, koma umu ndi momwe matenda a majini amafalikira.

Pali mitundu ina ya ma LSD omwe amatchedwa X-linked Inheritance . Izi zikutanthauza kuti jini ya matendawa ili pa chromosome ya X, kotero mwana (makamaka mwana wamwamuna) akhoza kulandira matendawa kuchokera kwa mayi yekha. Matenda a Danon, Matenda a Fabry, ndi Hunter Syndrome ndi matenda atatu otere.

Kuwonjezera pa zifukwa izi za majini, nthawi zina zinthu zotsatirazi zingathandizenso kukulitsa kapena kukula kwa LSD:

• Kutupa m'thupi.
• Kupsinjika kwa okosijeni ndi mgwirizano pakati pa thupi ndi ma free radicals , omwe ndi zotsatira za kagayidwe kachakudya.

Ma LSD nthawi zambiri amawonekera panthawi ya mimba kapena atangobadwa kumene. Komabe, nthawi zambiri, amathanso kuyamba mwa akuluakulu. Ma LSD omwe amayamba ali ana nthawi zambiri amakhala ovuta kwambiri, pomwe omwe amayamba atakula akhoza kukhala ochepa.

Kodi zizindikiro za matenda osungira a lysosomal (LSDs) ndi ziti?

Zizindikiro za matenda amenewa zimatha kusiyana kwambiri. Zimadalira:

• Kutengera maselo kapena ziwalo zomwe zimakhudzidwa ndi LSD.
• Zimatengera mtundu wa LSD womwe uli.

Komabe, pali zizindikiro zingapo zomwe zimapezeka pamitundu yambiri ya LSD. Izi ndi izi:

• Kukulirakulira kosazolowereka kwa ziwalo m'mimba, monga impso, chiwindi, kapamba, ndulu, kapena m'mimba (visceromegaly).
• Kusintha kwa minofu ya chigoba.
• Nkhope imakhala yolimba pang'ono. Mwachitsanzo, mphumi yotuluka, mphuno yosalala, ndi milomo yokulirapo .
• Kuchedwa kwa kukula kwa mwana. Izi zitha kuwonjezeka pang'onopang'ono pakapita nthawi.

Ngati mwana wanu ali ndi chimodzi mwa zizindikiro izi kapena zingapo, ndikofunikira kwambiri kupita kwa dokotala nthawi yomweyo kuti akalandire upangiri.

Kodi matenda osungira lysosomal (LSDs) amapezeka bwanji?

Madokotala amatha kuzindikira matenda osungira a lysosomal (LSDs) panthawi ya mimba. Amagwiritsa ntchito mayeso oyezetsa ana asanabadwe . Mwachitsanzo:

• Amniocentesis (kuyesa madzi m'mimba)
• Kuyesa kwa Chorionic Villus Sampling (kufufuza gawo la placenta)

Kuti muone ngati ma LSD ali m'magazi mwa makanda obadwa kumene, kuyezetsa magazi kungachitike kuti muone ngati ma enzymes ochepa ali m'magazi. Nthawi zina, dontho laling'ono la magazi (madontho amagazi ouma) limatengedwa kuchokera pa chala, kufalikira papepala lapadera, kutsala kuti liume, kenako n’kuyezetsa ngati pali ma enzymes.

Ngati mukuganiza kuti inu kapena mwana wanu muli ndi LSD, mungatumizidwe kwa katswiri wa matenda a endocrinologist kapena katswiri wa matenda a endocrinologist wa ana . Kwa ana ndi akulu omwe, dokotala angakulangizeni mayeso monga:

• Kuyezetsa magazi: Yesani kuchuluka kwa ma enzyme.
• Kuyesa majini: Yang'anani kusintha kwa majini anu.
• Kujambula khungu: Tengani chidutswa chaching'ono cha khungu ndikuwona ngati pali kusintha kwa majini.
• Kuyesa mkodzo / kuyesa mkodzo: Yesani kuchuluka kwa zinthu zomwe ma enzyme nthawi zambiri amagwiritsa ntchito.

Kuonjezera pa izi, mayeso ena angachitike kuti aone ngati ziwalo zanu zawonongeka. Mwachitsanzo:

• Kuchuluka kwa Magazi Onse
• Kuyezetsa maso
• Kuyesa kumva
• Mayeso a mtima: monga echocardiogram ndi electrocardiogram (EKG) .
• Mayeso a ntchito ya impso
• Mayeso a ntchito ya chiwindi
• Kujambula kwa MRI (MRI)
• X-ray

Mayeso amenewa amagwiritsidwa ntchito kudziwa bwino lomwe matendawo ndi otani komanso momwe alili oopsa.

Kodi matenda osungira lysosomal (LSDs) amachiritsidwa bwanji?

Matenda osungira a Lysosomal (LSDs) nthawi zambiri amachiritsidwa m'zipatala zapadera. Palibe mankhwala a matendawa. Komabe, pali mankhwala omwe angathandize kuwongolera zizindikiro ndikuchepetsa kuwonongeka kwa ziwalo. Izi zikuphatikizapo:

• Chithandizo Chosintha Ma Enzyme (ERT): Izi zimaphatikizapo kupereka enzyme yopangidwa ndi majini m'thupi kudzera m'mitsempha.
• Kusamutsa Maselo Oyambira:Maselo oyambira, kaya ochokera kwa opereka kapena ochokera ku magazi a umbilical cord, amaikidwa m'malo ena. Maselo amenewa angathandize kupanga enzyme yomwe ikusowa. Amathandizanso kuchepetsa kutupa ndi kuwonongeka kwa minofu.
• Chithandizo Chochepetsa Matenda a Substrate (SRT): Izi zimaphatikizapo kupereka mankhwala omwe amachepetsa kuchuluka kwa zinthu (substrate) zomwe zimasonkhana mkati mwa maselo. Mwachitsanzo, Miglustat imagwiritsidwa ntchito pa matenda a Gaucher. Ma SRT ena pakadali pano akuyesedwa kuchipatala.

Ofufuza akadali kufunafuna njira zatsopano zochizira matenda a LSD. Zina mwa izo ndi izi:

• Chithandizo cha Majini: Izi zikadali mu gawo lofufuza. Zimaphatikizapo kusintha majini owonongeka ndi athanzi.
• Mankhwala Othandizira Odwala (PCT): Mu izi, mamolekyu ang'onoang'ono amamangirira ku ma enzyme owonongeka ndikuwongolera ntchito ya ma lysosome.

Kuwonjezera pa mankhwala enaakewa, mankhwala ena amagwiritsidwa ntchito poletsa zizindikiro. Mwachitsanzo:

• Mankhwala oletsa chitetezo chamthupi
• Mankhwala Oletsa Kutupa Osagwiritsa Ntchito Ma steroid (NSAIDs)
• Zothandizira mafupa
• Mankhwala ena kutengera zizindikiro ndi ziwalo zomwe zakhudzidwa
• Kuchiza thupi
• Chithandizo cha kulankhula
• Nthawi zina opaleshoni

Kodi chiopsezo chotenga matenda osungira a lysosomal (LSDs) chingachepe?

Palibe chomwe tingachite kuti tichepetse chiopsezo chotenga matenda osungira a lysosomal (LSDs) chifukwa amayamba chifukwa cha majini. Komabe, kuyamba chithandizo mwamsanga inu kapena mwana wanu mutapezeka ndi matendawa kungakuthandizeni kwambiri kukhala ndi moyo wabwino.

Kodi munthu amene ali ndi LSD angayembekezere tsogolo lotani?

Tsogolo la munthu amene ali ndi LSD limadalira zinthu zingapo:

• Kodi matendawa anapezeka mofulumira bwanji?
• Kodi mudzalandira chithandizo chamtundu wanji?
• Nkhani ndi ya mtundu wa LSD.
• Kaya ma LSD angapite ku malo omwe ali ndi zipatala zapadera.

Kawirikawiri, munthu amene ali ndi LSD yoopsa akhoza kukhala ndi moyo wautali. Komabe, m'ma LSD osaopsa kwambiri, ngati chithandizo chiyamba kuchitidwa chisanachitike kuwonongeka kwa ziwalo, akhoza kukhala ndi moyo wautali.

Kodi ndingadzisamalire bwanji ine ndi mwana wanga pamene ndikukhala ndi LSD?

Ngati inu kapena mwana wanu muli ndi matenda osungira zinthu otchedwa lysosomal storage disease (LSD), zingakhale zovuta kwambiri m'maganizo. Chifukwa chake, ndikofunikira kwambiri kufunafuna thandizo kwa katswiri wa zamaganizo. Angakuphunzitseni njira zokuthandizani kuthana ndi vutoli m'maganizo.

Komanso, ndi bwino kulowa nawo magulu othandizira. Mwanjira imeneyi mutha kukumana ndi anthu ena omwe akukumana ndi mavuto ofanana ndikugawana zomwe akumana nazo.

Kodi ndiyenera kupita kwa dokotala liti?

Ngati zizindikiro zanu zikukulirakulira, kapena ngati simukuwona zotsatira zilizonse kuchokera ku chithandizo chanu pakapita nthawi, onetsetsani kuti mwaonana ndi dokotala wanu. Iye angakupatseni mankhwala ena omwe angakuthandizeni.

Uthenga Womaliza Wopita Nawo Kunyumba

Matenda Osungirako a Lysosomal, kapena LSD, ndi gulu la matenda osowa, a majini omwe amabwera chifukwa cha kuchuluka kwa zinthu zapoizoni mkati mwa maselo a thupi lathu. Ma poizoni amenewa amatha kuwononga maselo ndi ziwalo zosiyanasiyana.

Mitundu yoposa 70 ya ma LSD yadziwika. Amayambitsidwa ndi kusintha kwa majini. Ngakhale kuti zizindikiro zimasiyana malinga ndi mtundu wa LSD, zizindikiro zodziwika bwino zimaphatikizapo ziwalo za m'mimba zotupa, nkhope yolimba, ndi kuchedwa kwa chitukuko.

Ma LSD amatha kupezeka panthawi ya mimba, mwa makanda obadwa kumene, kapena mwa ana ndi akuluakulu kudzera mu mayeso a magazi, mayeso a majini, biopsies, ndi mayeso a mkodzo.

Ngakhale kuti matenda amenewa sangachiritsidwe kwathunthu, pali mankhwala omwe angathandize kuchepetsa zizindikiro ndikukweza moyo. Chifukwa chake, ndikofunikira kwambiri kuzindikira matendawa msanga ndikupeza chithandizo choyenera. Ngati muli ndi mafunso ena okhudza izi, musazengereze kufunsa dokotala wanu, chabwino?

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