Kodi mwana wanu ali ndi zizindikiro izi? Tiyeni tidziwe za Pearson Syndrome

Kodi mwana wanu amadwala nthawi zonse? Kodi amaoneka wotopa? Kodi nthawi zina amavulala mosavuta? Ngakhale kuti izi zingawoneke ngati zinthu wamba, nthawi zina pangakhale chifukwa chachikulu chomwe sitikudziwa. Lero tikambirana za matenda osowa koma oopsa kwambiri. Umenewo ndi matenda otchedwa Pearson Syndrome.

Kodi Pearson Syndrome ndi chiyani?

Mwachidule, Pearson Syndrome ndi matenda osowa kwambiri komanso oopsa a mitochondria. Tsopano mwina mukudabwa kuti mitochondria imeneyi ndi chiyani. Tangoganizani kuti selo lililonse m'thupi lathu lili ngati fakitale yaying'ono. Mafakitale awa amafunika mphamvu kuti agwire ntchito. Ziwalo zomwe zimapangitsa mphamvu imeneyo, monga zomera zazing'ono zamagetsi, zimatchedwa mitochondria. Ndi mitochondria iyi yomwe imasintha chakudya chomwe timadya kukhala mphamvu ndikupereka mphamvu yofunikira kuti chiwalo chilichonse ndi dongosolo lililonse m'thupi lathu, monga chiwindi, mtima, ndi ubongo, zigwire ntchito.

Mwa mwana yemwe ali ndi Pearson Syndrome, pamakhala kusintha kwina, kapena kusintha kwa majini mu mitochondria iyi, kutanthauza DNA ya mitochondrial. Izi zimalepheretsa maselo kupanga mphamvu moyenera. Izi zimakhudza kwambiri ziwalo zofunika za mwana monga mafupa, kapamba, ndi chiwindi.

Matendawa nthawi zambiri amapezeka ali aang'ono. Angayambitse mavuto osiyanasiyana m'magazi a mwana. Mwachitsanzo:

• Kuchepa kwa maselo ofiira a magazi, ndiko kuti , kuchepa kwa magazi m'thupi .
• Kuchepa kwa maselo oyera amagazi, ndiko kuti , neutropenia .
• Kuchepa kwa ma platelet (maselo omwe amathandiza magazi kuundana), otchedwa thrombocytopenia .

Matendawa amatchedwanso Pearson bone marrow pancreatic syndrome.

Kodi zizindikiro zimenezi ndi ziti?

Mwana amene ali ndi Pearson Syndrome angasonyeze zizindikiro zosiyanasiyana. Si mwana aliyense amene ali ndi zizindikiro zonse. Komabe, pali zizindikiro zina zodziwika bwino.

Zizindikiro zoyamba kuoneka

• Kutupa mosavuta: Ngakhale chiphuphu chaching'ono chingayambitse kuvulala kwakukulu kapena kuvulala.
• Kutopa ndi kufooka nthawi zonse: Mwanayo akhoza kumva tulo nthawi zonse, ngati kuti alibe mphamvu zosewerera.
• Kutsegula m'mimba pafupipafupi (kutsegula m'mimba): Kutsegula m'mimba kumatenga masiku angapo ndipo n'kovuta kuletsa.
• Matenda ofala: Kudwala ngakhale ndi zinthu zazing'ono, kutentha thupi ndi chimfine pafupipafupi.
• Kulephera kukula: Kusakula msinkhu kapena kunenepa mofulumira monga ana ena a msinkhu womwewo. Zili ngati kusalemera ngakhale mukudya.
• Khungu lotumbuluka: Chifukwa cha kusowa kwa magazi m'thupi, mtundu wa khungu umasintha ndipo umakhala wotumbuluka.
• Kufooka kwa minofu: Miyendo imafooka komanso imafooka.
• Kusanza: Kusanza pafupipafupi, kulephera kudya chakudya chilichonse.
• Kuoneka kwachikasu pakhungu ndi maso oyera (jaundice): Chizindikiro ichi chingachitike pamene ntchito ya chiwindi yasokonekera.

Mavuto ena omwe angabuke pakapita nthawi

Pamene mukukhala ndi matendawa, mavuto ena angabuke pakapita nthawi. Ena mwa mavutowa ndi awa:

• Matenda a shuga: Matenda a shuga amatha kuchitika chifukwa cha kuwonongeka kwa kapamba.
• Kutaya kumva: Kutaya kumva kungachitike pang'onopang'ono.
• Matenda a Kearns-Sayre: Uwu ndi matenda a mitochondrial. Umakhudzanso dongosolo la mitsempha ndi mtima.
• Matenda oyenda kapena khunyu: Izi zitha kuphatikizapo kugwedezeka ndi kugwedezeka kosalamulirika kwa miyendo.
• Mavuto a masomphenya: Zinthu monga zikope zopindika, retinitis pigmentosa, ndi cataract zimatha kuchitika.

Nchifukwa chiyani Pearson Syndrome imachitika?

Tanena kale kuti Pearson Syndrome imayamba chifukwa cha zolakwika mu DNA ya mitochondrial (mtDNA) . Kumbukirani, mitochondria ndi ziwalo zomwe zimapanga mphamvu pafupifupi selo lililonse m'thupi lathu. Chifukwa chake, pakakhala cholakwika mu mitochondria iyi, maselo sapeza mphamvu zomwe amafunikira. Kenako maselo amenewo amawonongeka kapena kufa msanga.

Taganizirani izi motere: Mitochondria ili ngati injini ya galimoto. Ngati pali vuto ndi injini, galimotoyo sigwira ntchito. Chinthu chomwecho chimachitikiranso ndi maselo.

Asayansi sakudziwa bwino chifukwa chake zolakwika za mitochondrial DNA (mtDNA) zimachitika, komanso momwe zolakwikazi zimayambitsa zizindikirozi.

Kodi izi ndi zinthu zomwe zimachokera ku mibadwomibadwo?

Nthawi zambiri, Pearson Syndrome imachitika popanda chifukwa chomveka. Izi zikutanthauza kuti, imayamba chifukwa cha kusintha kwa majini mwachisawawa. Komabe, nthawi zambiri , imatha kutengera kwa makolo, zomwe zikutanthauza kuti imatha kupatsirana kuchokera kwa kholo limodzi kupita kwa lina. Koma milandu yotereyi ndi yosowa kwambiri, ndipo siyikumveka bwino.

Kodi madokotala amapeza bwanji izi?

Ngati dokotala wanu akukayikira kuti mwana wanu ali ndi Pearson Syndrome, adzalamula kuti ayesedwe. Zina mwa izi ndi izi:

• Kuyezetsa magazi: Kuyezetsa kuchuluka kwa maselo ofiira a magazi, maselo oyera a magazi, ndi ma platelet m'magazi. Kuyezetsanso momwe chiwindi ndi impso zimagwirira ntchito.
• Kufufuza za m'mafupa:Izi zimaphatikizapo kutenga mafuta ochepa a m'chiuno kapena malo ena oyenera pansi pa mankhwala oletsa ululu ndikuwuyang'ana pansi pa maikulosikopu. Izi zitha kuzindikira zolakwika m'maselo amagazi, monga matumba odzaza madzi mkati mwa maselo kapena chitsulo m'maselo ofiira amagazi.
• Kuyesa chopondapo: Izi zimathandiza kudziwa momwe kapamba amagwirira ntchito.
• Kuyesa mkodzo/mkodzo: Kumayesa momwe impso zimagwirira ntchito komanso mavuto ena.

Zotsatira za mayesowa, makamaka biopsy ya m'mafupa, zimaphunziridwa mosamala ndi katswiri wa matenda kuti atsimikizire matendawa.

Kodi mankhwala a Pearson Syndrome ndi ati?

Mwatsoka, palibe mankhwala a Pearson Syndrome. Mankhwala omwe alipo panopa cholinga chake ndi kuchepetsa zizindikiro ndikupangitsa mwana kukhala womasuka momwe angathere. Izi zikuphatikizapo:

• Kuika magazi: Magazi amaperekedwa ngati mankhwala a matenda monga kuchepa kwa magazi m'thupi.
• Kuchiza thupi ndi ntchito: Izi ndizofunikira kulimbitsa minofu ya mwana ndikumuthandiza kuchita ntchito za tsiku ndi tsiku.
• Kusamutsa maselo oyambira: Chithandizochi chingakhale chopambana kwa ana ena, koma ndi chithandizo chovuta kwambiri.
• Zowonjezera: Zowonjezera monga coenzyme Q10, L-carnitine, ndi mavitamini osiyanasiyana zimathandiza maselo kupanga mphamvu.
• Kuchiza matenda: Popeza matenda amapezeka kawirikawiri, maantibayotiki amaperekedwa pa matenda a bakiteriya ndi mavairasi.

Ana omwe akhala ndi moyo kuyambira ali ana aang'ono ayenera kuyang'aniridwa ndi akatswiri osiyanasiyana okhudza chiwindi chawo, impso, mtima, ndi kapamba, chifukwa ziwalo zimenezi zimatha kukhudzidwanso pakapita nthawi.

Kodi anthu omwe ali ndi vutoli angakhale ndi moyo kwa nthawi yayitali bwanji?

Izi ndi zomvetsa chisoni kunena. Ana ambiri omwe ali ndi Pearson Syndrome, pafupifupi theka, amafa ali aang'ono kapena ali ana aang'ono. Ndi ochepa okha omwe amapulumuka akakula. Matendawa amatha kubweretsa lactic acidosis (kuchuluka kwa lactic acid m'magazi) komanso kulephera kwa ziwalo.

Ndikudziwa kuti mudzamva chisoni kwambiri, mantha, komanso kukhumudwa mukamva izi. Izi ndi zovuta kwambiri kuzipirira.

Kodi mumatani ndi vuto lovuta chonchi?

Mukazindikira kuti mwana wanu ali ndi Pearson Syndrome, zingakhale zodabwitsa komanso zopweteka kwambiri kwa banja lonse. Zimenezo ndi zachibadwa.

• Simuli nokha: Choyamba, kumbukirani kuti simukudutsa mu izi nokha. Muli ndi madokotala, anamwino, abale, ndi abwenzi omwe angakuthandizeni ndikukumvetsani.
• Magulu othandizira: Pali magulu othandizira omwe amapangidwa ndi makolo a ana omwe ali ndi matenda osowa. Kulowa m'gulu limodzi kungakuthandizeni kuti musamadzimve kuti ndinu nokha. Ena akamagawana zomwe akumana nazo, mudzapezanso chitonthozo ndi malingaliro.
• Phunzirani, koma...: Si udindo wanu kuphunzitsa ena za mitochondria ndi Pearson Syndrome. Pali malo ambiri oti mupeze zambiri zokhudza izi.
• Pemphani thandizo: Anthu omwe ali pafupi nanu angakhale okonzeka kukuthandizani, koma sangadziwe momwe angachitire. Fotokozani momveka bwino zomwe mukufuna. Mwina mukufuna nthawi yokhala nokha ndi mwana wanu, kapena mukungofuna nthawi yokhala nokha. Musachite manyazi kupempha thandizo, monga kupita kusitolo, kugwira ntchito zina zapakhomo, kapena kusamalira ana.
• Kuthana ndi malingaliro: Zingakhale zovuta kuthana ndi malingaliro omwe amabwera chifukwa chodziwa kuti mwana wanu ali ndi matenda oopsa. Popeza matendawa ndi osowa, mungamve kuti ndinu nokha. Poyamba, kupita kumagulu othandizira ngati awa ndi kufunafuna chidziwitso kungawoneke ngati kosafunikira. Ndizachibadwa kufuna kukhala ndi nthawi yochuluka ndi mwana wanu momwe mungathere. Komabe, kumbukirani kuti pali malo komwe mungapeze thandizo lotere. Thandizo lotere ndi lofunika kwambiri pogawana chisoni chanu, ululu wanu, komanso kupeza mphamvu zothanirana ndi vutoli.

Nthawi zonse kumbukirani kuti "simuli nokha." Mutha kupeza mphamvu ndi chitsogozo chomwe mukufuna kudzera mwa madokotala, abale, abwenzi, ndi magulu ena othandizira.

Pomaliza, kumbukirani izi.

Matenda a Pearson ndi matenda osowa koma oopsa kwambiri. Amayambitsidwa ndi vuto la mitochondria, omwe ndi mphamvu zazing'ono zomwe zimapatsa mphamvu maselo athu. Izi zingakhudze ziwalo zofunika kwambiri monga mafupa a mwana ndi kapamba.

• Dziwani zizindikiro: Ngati mwana wanu ali ndi zizindikiro monga kutopa kosalekeza, kufiira, kuvulala pang'ono, kapena kudwala pafupipafupi, funsani upangiri kwa dokotala.
• Kuzindikira matenda molondola n'kofunika: Mayeso apadera amafunika kuti adziwe matenda osowa ngati awa.
• Chithandizochi cholinga chake ndi kuchepetsa zizindikiro: Ngakhale kuti palibe mankhwala okwanira, pali mankhwala ochepetsa zizindikirozo ndikupatsa mwana mpumulo.
• Thandizo la maganizo ndi lofunika kwambiri: Thandizo la maganizo ndi lofunika kwambiri kwa banja lomwe likukumana ndi vuto lotere. Apangitseni kumva kuti sali okha.

Ndikukhulupirira kuti izi zakuthandizani kumvetsetsa za vutoli losowa. Ngati muli ndi mafunso ena okhudzana ndi izi, chonde musazengereze kulankhula ndi dokotala wanu.

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