Matenda a Gamstorp (Hyperkalemic Periodic Paralysis)

Zamkati

• Matenda a Gamstorp ndi chiyani?
• Kodi zizindikiro za matenda a Gamstorp ndi ziti?
• Kufa ziwalo
• Myotonia
• Kodi zimayambitsa matenda a Gamstorp ndi ziti?
• Ndani ali pachiwopsezo cha matenda a Gamstorp?
• Kodi matenda a Gamstorp amapezeka bwanji?
• Kukonzekera kukaonana ndi dokotala wanu
• Kodi zochizira matenda a Gamstorp ndi ziti?
• Mankhwala
• Zithandizo zapakhomo
• Kulimbana ndi matenda a Gamstorp
• Kodi chiyembekezo chanthawi yayitali ndichotani?

Matenda a Gamstorp ndi chiyani?

Matenda a Gamstorp ndichikhalidwe chosowa kwambiri chomwe chimakupangitsani kukhala ndi magawo ofooka kapena kufooka kwakanthawi. Matendawa amadziwika ndi mayina ambiri, kuphatikiza ziwalo za hyperkalemic periodic.

Ndi matenda obadwa nawo, ndipo ndizotheka kuti anthu azinyamula ndikudutsitsa jini popanda kukumana ndi zizindikilo. M'modzi mwa anthu 250,000 ali ndi vutoli.

Ngakhale kulibe mankhwala ku matenda a Gamstorp, anthu ambiri omwe ali nawo amatha kukhala moyo wabwinobwino, wokangalika.

Madokotala amadziwa zambiri zomwe zimayambitsa ziwalo zopuwala ndipo nthawi zambiri amathandizira kuchepetsa zotsatira za matendawa potsogolera anthu omwe ali ndi matendawa kupewa zina zomwe zimayambitsa matendawa.

Kodi zizindikiro za matenda a Gamstorp ndi ziti?

Matenda a Gamstorp amachititsa zizindikiro zapadera, kuphatikizapo:

• kufooka kwakukulu kwamiyendo
• ziwalo pang'ono
• kugunda kwamtima kosasintha
• kudumpha kugunda kwa mtima
• kuuma minofu
• kufooka kosatha
• kusayenda

Kufa ziwalo

Magawo ofa ziwalo ndi achidule ndipo amatha kumapeto kwa mphindi zochepa. Ngakhale mutakhala ndi gawo lalitali, muyenera kupezanso bwino mkati mwa maola 2 kuyambira pomwe zizindikilozo zayamba.

Komabe, zigawo nthawi zambiri zimachitika mwadzidzidzi. Mutha kupeza kuti mulibe chenjezo lokwanira kuti mupeze malo abwino kudikirira chochitika. Pachifukwa ichi, kuvulala kwakugwa ndikofala.

Mipukutu imayamba kuyambira ali wakhanda kapena ali mwana. Kwa anthu ambiri, kuchuluka kwa magawo kumawonjezeka mzaka zaunyamata mpaka pakati pa 20s.

Mukamayandikira zaka 30, ziwopsezo zimayamba kuchepa. Kwa anthu ena, amatha kwathunthu.

Myotonia

Chimodzi mwazizindikiro za matenda a Gamstorp ndi myotonia.

Ngati muli ndi chizindikirochi, ena mwa minofu yanu amatha kukhala okhwima kwakanthawi ndipo kumakhala kovuta kusuntha. Izi zingakhale zopweteka kwambiri. Komabe, anthu ena samamva kusasangalala nthawi iliyonse.

Chifukwa cha kutsekeka kwapafupipafupi, minofu yomwe imakhudzidwa ndi myotonia nthawi zambiri imawoneka yolongosoka komanso yamphamvu, koma mutha kupeza kuti mutha kugwiritsa ntchito mphamvu zochepa kapena osagwiritsa ntchito minofu imeneyi.

Myotonia imayambitsa kuwonongeka kosatha nthawi zambiri. Anthu ena omwe ali ndi matenda a Gamstorp pamapeto pake amagwiritsa ntchito ma wheelchair chifukwa cha kuwonongeka kwa minofu yawo yamiyendo.

Chithandizo chimatha kuteteza kapena kusintha kufooka kwapang'onopang'ono kwa minofu.

Kodi zimayambitsa matenda a Gamstorp ndi ziti?

Matenda a Gamstorp ndi zotsatira za kusintha, kapena kusintha kwa jini yotchedwa SCN4A. Jini iyi imathandizira kupanga njira za sodium, kapena mipata yaying'ono kwambiri yomwe sodium imadutsa m'maselo anu.

Mafunde amagetsi opangidwa ndi mamolekyulu osiyanasiyana a sodium ndi potaziyamu omwe amadutsa m'mimbamo yama cell amalamulira kusuntha kwa minofu.

Mu matenda a Gamstorp, njira izi zimakhala ndi zovuta zina zomwe zimapangitsa kuti potaziyamu isonkhane mbali imodzi ya khungu ndikumangika m'magazi.

Izi zimalepheretsa mphamvu yamagetsi kuti ipangidwe ndikupangitsani kuti musamayende bwino.

Ndani ali pachiwopsezo cha matenda a Gamstorp?

Matenda a Gamstorp ndi matenda obadwa nawo, ndipo ndi autosomal olamulira. Izi zikutanthauza kuti muyenera kukhala ndi mtundu umodzi wa jini yosinthidwa kuti mukhale ndi matendawa.

Pali mwayi wa 50% wokhala ndi jini ngati m'modzi wa makolo anu ndi wonyamula. Komabe, anthu ena omwe ali ndi jini samakhala ndi zizindikilo.

Kodi matenda a Gamstorp amapezeka bwanji?

Kuti mupeze matenda a Gamstorp, dokotala wanu adzayamba kuthana ndi vuto la adrenal monga matenda a Addison, omwe amapezeka pomwe tiziwalo tanu tomwe timapanga adrenal sakupatsani mahomoni okwanira a cortisol ndi aldosterone.

Ayeseranso kuthana ndi matenda a impso omwe angayambitse potaziyamu yachilendo.

Akamaliza kuthana ndi mavuto a adrenal ndi matenda a impso obadwa nawo, dokotala wanu akhoza kutsimikizira ngati ndi matenda a Gamstorp kudzera pakuwunika magazi, kusanthula kwa DNA, kapena kuwunika ma seramu electrolyte ndi potaziyamu.

Kuti muwone milingo imeneyi, dokotala wanu angakupatseni mayeso okhudzana ndi masewera olimbitsa thupi otsatiridwa ndi ena kuti muwone momwe potaziyamu amasinthira.

Kukonzekera kukaonana ndi dokotala wanu

Ngati mukuganiza kuti mutha kukhala ndi matenda a Gamstorp, zitha kuthandiza kuti muzitsatira zomwe mukulemba tsiku lililonse. Muyenera kulemba zazomwe mukuchita komanso zomwe mumadya masiku amenewo kuti zikuthandizeni kudziwa zomwe zimayambitsa.

Muyeneranso kubweretsa chidziwitso chilichonse chomwe mungapeze ngati muli ndi mbiri yokhudza matendawa kapena ayi.

Kodi zochizira matenda a Gamstorp ndi ziti?

Mankhwalawa amatengera kulimba komanso kuchuluka kwamagawo anu. Mankhwala ndi zowonjezera zimathandizira anthu ambiri omwe ali ndi matendawa. Kupewa zoyambitsa zina kumathandizanso ena.

Mankhwala

Anthu ambiri amadalira mankhwala kuti athane ndi ziwalo. Imodzi mwa mankhwala omwe amalembedwa kwambiri ndi acetazolamide (Diamox), omwe amagwiritsidwa ntchito kwambiri poletsa khunyu.

Dokotala wanu akhoza kukupatsani mankhwala okodzetsa kuti achepetse potaziyamu m'magazi.

Anthu omwe ali ndi myotonia chifukwa cha matendawa amatha kuthandizidwa pogwiritsa ntchito mankhwala ochepa monga mexiletine (Mexitil) kapena paroxetine (Paxil), omwe amathandiza kukhazikika kwa minofu.

Zithandizo zapakhomo

Anthu omwe amakumana ndi zochitika zochepa kapena zosachitika nthawi zina amatha kuthana ndi ziwalo popanda kugwiritsa ntchito mankhwala.

Mutha kuwonjezera zowonjezera mavitamini, monga calcium gluconate, ku chakumwa chokoma kuti muchepetse gawo lofatsa.

Kumwa kapu yamadzi amadzimadzi kapena kuyamwa pipi yolimba pazizindikiro zoyambirira za gawo lofa ziwalo kungathandizenso.

Kulimbana ndi matenda a Gamstorp

Zakudya zopangidwa ndi potaziyamu kapena zina zomwe zimayambitsa matenda zimatha kuyambitsa magawo. Potaziyamu wochuluka m'magazi angayambitse kufooka kwa minofu ngakhale kwa anthu omwe alibe matenda a Gamstorp.

Komabe, iwo omwe ali ndi matendawa atha kusintha kusintha kwakung'ono kwambiri pamasamba a potaziyamu omwe sangakhudze munthu yemwe alibe matenda a Gamstorp.

Zomwe zimayambitsa zimaphatikizapo:

• zipatso zokhala ndi potaziyamu wambiri, monga nthochi, ma apurikoti, ndi zoumba
• Masamba olemera potaziyamu, monga sipinachi, mbatata, broccoli, ndi kolifulawa
• mphodza, nyemba, ndi mtedza
• mowa
• kupuma nthawi yayitali kapena kusagwira ntchito
• kutenga nthawi yayitali osadya
• kuzizira kwambiri
• kutentha kwakukulu

Sikuti aliyense amene ali ndi matenda a Gamstorp adzakhala ndi zoyambitsa zomwezi. Lankhulani ndi dokotala wanu, ndipo yesani kujambula zochitika zanu ndi zakudya zanu mu diary kuti zikuthandizeni kudziwa zomwe zimayambitsa.

Kodi chiyembekezo chanthawi yayitali ndichotani?

Chifukwa matenda a Gamstorp ndi obadwa nawo, simungathe kuwapewa. Komabe, mutha kuchepetsa zovuta za vutoli poyang'anira mosamala zoopsa zanu. Kukalamba kumachepetsa kuchuluka kwa magawo.

Ndikofunika kuti mulankhule ndi dokotala wanu za zakudya ndi ntchito zomwe zingayambitse magawo anu. Kupewa zoyambitsa zomwe zimayambitsa magawo olumala kumatha kuchepetsa zovuta zamatendawa.