Isifo SeGamstorp (Hyperkalemic Periodic Paralysis)

-Delile

• Siyini isifo seGamstorp?
• Ziyini izimpawu zesifo seGamstorp?
• Ukukhubazeka
• I-Myotonia
• Ziyini izimbangela zesifo seGamstorp?
• Ubani osengozini yesifo seGamstorp?
• Sitholakala kanjani isifo seGamstorp?
• Ilungiselela ukubona udokotela wakho
• Yiziphi izindlela zokwelapha isifo seGamstorp?
• Imithi
• Amakhambi asekhaya
• Ukubhekana nesifo seGamstorp
• Uyini umbono wesikhathi eside?

Siyini isifo seGamstorp?

Isifo seGamstorp yisimo sezakhi zofuzo esingavamile ngokweqile esidala ukuthi ube neziqephu zokuqina kwemisipha noma ukukhubazeka okwesikhashana. Lesi sifo saziwa ngamagama amaningi, okubandakanya ukukhubazeka kwama-periodic hyperkalemic.

Kuyisifo esizuzwe njengefa, futhi kungenzeka ukuthi abantu bathwale futhi badlulise isakhi ngaphandle kokuthola izimpawu. Umuntu oyedwa kwabangu-250,000 unalesi simo.

Yize lungekho ikhambi lesifo seGamstorp, abantu abaningi abanaso bangaphila impilo ejwayelekile, esebenzayo.

Odokotela bazi izimbangela eziningi zeziqephu ezikhubazekile futhi imvamisa bangasiza ekunciphiseni imiphumela yalesi sifo ngokuqondisa abantu abanalesi sifo ukugwema izimbangela ezithile ezikhonjiwe.

Ziyini izimpawu zesifo seGamstorp?

Isifo seGamstorp sidala izimpawu ezihlukile, kufaka phakathi:

• ubuthakathaka obunzima besitho
• ukukhubazeka okuyingxenye
• ukushaya kwenhliziyo okungajwayelekile
• kweqa ukushaya kwenhliziyo
• ukuqina kwemisipha
• ubuthakathaka baphakade
• ukunganyakazi

Ukukhubazeka

Iziqephu zabakhubazekile zimfushane futhi zingaphela ngemuva kwemizuzu embalwa. Noma ngabe unesiqephu eside, kufanele ululame ngokuphelele kungakapheli amahora ama-2 izimpawu ziqale.

Noma kunjalo, iziqephu zivame ukuvela kungazelelwe. Ungathola ukuthi awunaso isexwayiso esanele sokuthola indawo ephephile yokulinda isiqephu. Ngalesi sizathu, ukulimala kokuwa kuvamile.

Iziqephu zivame ukuqala ebuntwaneni noma ebusheni bokuqala. Kubantu abaningi, imvamisa yeziqephu iyanda ngeminyaka yobusha ize ibe maphakathi neminyaka yama-20s.

Njengoba usondela kuma-30s akho, ukuhlaselwa kuba kuncane kakhulu. Kwabanye abantu, banyamalala ngokuphelele.

I-Myotonia

Esinye sezimpawu zesifo seGamstorp yi-myotonia.

Uma unalesi sibonakaliso, amanye amaqembu akho emisipha angaba lukhuni okwesikhashana futhi kube nzima ukuhambisa. Lokhu kungaba buhlungu kakhulu. Kodwa-ke, abanye abantu abazizwa bengakhululekile ngesikhathi sesiqephu.

Ngenxa yokuphikwa njalo, imisipha ethinteka yi-myotonia ivame ukubukeka ichazwe kahle futhi inamandla, kepha ungathola ukuthi ungasebenzisa amandla amancane noma ungasebenzisi nhlobo ukusebenzisa le misipha.

I-Myotonia idala ukulimala okungapheli ezimweni eziningi. Abanye abantu abanesifo iGamstorp bagcina besebenzisa izihlalo ezinamasondo ngenxa yokonakala kwemisipha yabo yemilenze.

Ukwelashwa kuvame ukuvimbela noma ukuguqula ukubuthakathaka kwemisipha okuqhubekayo.

Ziyini izimbangela zesifo seGamstorp?

Isifo se-Gamstorp siwumphumela wokuguqula, noma ukuguqula, kuhlobo olubizwa nge-SCN4A. Lesi sakhi sisiza ukukhiqiza iziteshi ze-sodium, noma ukuvuleka okuncane kakhulu lapho i-sodium ihamba ngamaseli akho.

Imisinga kagesi ekhiqizwa ngamamolekyuli ehlukene e-sodium ne-potassium adlula ezingqamuzaneni zeseli elawula ukunyakaza kwemisipha.

Esifo seGamstorp, lezi ziteshi zinokukhubazeka okungokomzimba okwenza ukuthi i-potassium ihlangane kolunye uhlangothi lwengqamuzana leseli futhi yakhe egazini.

Lokhu kuvimbela amandla kagesi adingekayo ukuthi angakheki futhi akwenze ungakwazi ukuhambisa imisipha ethintekile.

Ubani osengozini yesifo seGamstorp?

Isifo seGamstorp yisifo esizuzwe njengefa, futhi sinamandla okubusa i-autosomal. Lokhu kusho ukuthi udinga kuphela ikhophi eyodwa yesakhi esiguqukile ukuthuthukisa lesi sifo.

Kunethuba elingamaphesenti angama-50 lokuthi ube nesakhi sofuzo uma omunye wabazali bakho ethwala. Kodwa-ke, abanye abantu abanezakhi zofuzo abakaze babe nezimpawu.

Sitholakala kanjani isifo seGamstorp?

Ukuthola isifo se-Gamstorp, udokotela wakho uzoqala akhiphe ukuphazamiseka kwe-adrenal njengesifo i-Addison, esenzeka lapho izindlala zakho ze-adrenal zingakhiqizi ngokwanele ama-hormone i-cortisol ne-aldosterone.

Bazozama futhi ukukhipha izifo zezinso zofuzo ezingadala amazinga e-potassium angajwayelekile.

Lapho sebekhiphe lokhu kuphazamiseka kwe-adrenal kanye nezifo zezinso ezizuzwe njengefa, udokotela wakho angakuqinisekisa ukuthi ngabe yisifo seGamstorp ngokuhlolwa kwegazi, ukuhlaziywa kwe-DNA, noma ngokuhlola amazinga wakho we-serum electrolyte ne-potassium.

Ukuze uhlole la mazinga, udokotela wakho angakwenza uvivinye okubandakanya ukuzivocavoca okulinganiselwe okulandelwa ukuphumula ukubona ukuthi amazinga akho e-potassium ashintsha kanjani.

Ilungiselela ukubona udokotela wakho

Uma ucabanga ukuthi ungaba nesifo seGamstorp, kungasiza ukugcina idayari ilandelela amazinga akho wamandla usuku ngalunye. Kufanele ugcine amanothi ngemisebenzi yakho nokudla kwakho ngalezo zinsuku ukusiza ukunquma izimbangela zakho.

Kufanele futhi ulethe noma yiluphi ulwazi ongaqoqa mayelana nokuthi unomlando womndeni wesifo noma cha.

Yiziphi izindlela zokwelapha isifo seGamstorp?

Ukwelashwa kusekelwe ebukhulwini nobuningi beziqephu zakho. Imithi nezithasiselo zisebenza kahle kubantu abaningi abanalesi sifo. Ukugwema izimbangela ezithile kusebenza kahle kwabanye.

Imithi

Iningi labantu kumele lithembele emithini yokulawula ukuhlaselwa ngabakhubazekile. Omunye wemithi ebekwa kakhulu yi-acetazolamide (Diamox), ejwayele ukusetshenziselwa ukulawula ukuquleka.

Udokotela wakho angahle anikeze umchamo wokwehlisa amazinga e-potassium egazini.

Abantu abane-myotonia ngenxa yalesi sifo bangalashwa besebenzisa imithamo ephansi yemithi efana ne-mexiletine (Mexitil) noma i-paroxetine (Paxil), esiza ekuqiniseni imisipha ebucayi.

Amakhambi asekhaya

Abantu abahlangabezana neziqephu ezimnene noma ezingavamile kwesinye isikhathi banganqanda ukuhlaselwa ngokhubazekile ngaphandle kokusebenzisa umuthi.

Ungangeza izengezo zamaminerali, njenge-calcium gluconate, kwisiphuzo esimnandi ukumisa isiqephu esimnene.

Ukuphuza ingilazi yamanzi we-tonic noma ukumunca ucezu lukaswidi onzima ezimpawu zokuqala zesiqephu esikhubazekile nakho kungasiza.

Ukubhekana nesifo seGamstorp

Ukudla okunothe nge-potassium noma ngisho nokuziphatha okuthile kungadala iziqephu. I-potassium eningi egazini izodala ubuthakathaka bemisipha ngisho nakubantu abangenaso isifo seGamstorp.

Kodwa-ke, labo abanesifo bangasabela ekushintsheni okuncane kakhulu emazingeni e-potassium angeke athinte umuntu ongenaso isifo seGamstorp.

Izimbangela ezivamile zifaka:

• Izithelo ezine-potassium eningi, njengobhanana, amabhilikosi, nezithelo zomvini
• imifino ecebile nge-potassium, njengesipinashi, amazambane, i-broccoli ne-cauliflower
• udali, ubhontshisi, namantongomane
• utshwala
• isikhathi eside sokuphumula noma sokungasebenzi
• ukuhamba isikhathi eside ngaphandle kokudla
• kubanda kakhulu
• ukushisa okukhulu

Akuwona wonke umuntu onesifo seGamstorp ozoba nezimbangela ezifanayo. Khuluma nodokotela wakho, bese uzama ukuqopha imisebenzi yakho nokudla kwakho kudayari ukusiza ukunquma izimbangela zakho ezithile.

Uyini umbono wesikhathi eside?

Ngoba isifo seGamstorp siyifa, awukwazi ukusivimba. Kodwa-ke, ungalinganisa imiphumela yalesi simo ngokulawula ngokucophelela izinto zakho ezinobungozi. Ukuguga kunciphisa imvamisa yeziqephu.

Kubalulekile ukukhuluma nodokotela wakho mayelana nokudla kanye nemisebenzi engahle idale iziqephu zakho. Ukugwema izimbangela ezibangela iziqephu ezikhubazekile kunganciphisa imiphumela yesifo.