Isifo seGamstorp (Hyperkalemic Periodic Paralysis)

Umxholo

• Yintoni isifo seGamstorp?
• Ziintoni iimpawu zesifo seGamstorp?
• Ukukhubazeka
• UMyotonia
• Zithini izizathu zesifo seGamstorp?
• Ngubani osemngciphekweni wesifo seGamstorp?
• Isifo seGamstorp sifunyaniswa njani?
• Ukulungiselela ukubona ugqirha wakho
• Luthini unyango lwezifo zeGamstorp?
• Amayeza
• Unyango lwasekhaya
• Ukujamelana nesifo seGamstorp
• Ithini imbono yexesha elide?

Yintoni isifo seGamstorp?

Isifo seGamstorp yimeko enqabileyo yemfuza ebangela ukuba ube neziqendu zobuthathaka bemisipha okanye ukukhubazeka okwethutyana. Esi sifo saziwa ngamagama amaninzi, kubandakanya ukukhubazeka kwamaxesha ngamaxesha.

Sisifo esizuzwe njengelifa, kwaye kunokwenzeka ukuba abantu bathwale kwaye badlulise i-gene ngaphandle kokufumana iimpawu. Umntu omnye kuma-250,000 unale meko.

Nangona kungekho nonyango yesifo seGamstorp, abantu abaninzi abanaso banokuphila ubomi obuqhelekileyo, obusebenzayo.

Oogqirha bayazi uninzi lwezinto ezibangela iziqendu zokukhubazeka kwaye zihlala zinokunceda ukunciphisa imiphumo yesifo ngokukhokela abantu abanesi sifo ukuphepha izinto ezithile ezichongiweyo.

Ziintoni iimpawu zesifo seGamstorp?

Isifo seGamstorp sibangela iimpawu ezizodwa, kubandakanya:

• ubuthathaka obukhulu belungu
• ukukhubazeka kancinci
• ukubetha kwentliziyo okungaqhelekanga
• tsiba ukubetha kwentliziyo
• ukuqina kwemisipha
• ubuthathaka obungapheliyo
• ukungakwazi ukuhamba

Ukukhubazeka

Iziqendu zokukhubazeka zifutshane kwaye zinokuphela emva kwemizuzu embalwa. Nokuba unesiqendu esithe kratya, kuya kufuneka uchache ngokupheleleyo ngaphakathi kwiiyure ezi-2 zeempawu eziqala.

Nangona kunjalo, iziqendu zihlala zenzeka ngesiquphe. Unokufumanisa ukuba awunaso isilumkiso esaneleyo sokufumana indawo ekhuselekileyo yokulinda isiqendu. Ngesi sizathu, ukwenzakala ekuweni kuqhelekile.

Iziqendu ziqala ebusaneni okanye ebuntwaneni bokuqala. Kubantu abaninzi, ukuphindaphindeka kweziqendu kuyanda kwiminyaka yokufikisa ukuya kwiminyaka ye-20.

Njengoko usondela kwi-30s yakho, uhlaselo luye lunciphe rhoqo. Abanye abantu, bayanyamalala ngokupheleleyo.

UMyotonia

Olunye lweempawu zesifo seGamstorp yi-myotonia.

Ukuba unolu phawu, amanye amaqela akho emisipha anokuba lukhuni okwexeshana kwaye kube nzima ukuhamba. Oku kunokuba buhlungu kakhulu. Nangona kunjalo, abanye abantu abazive bengonwabanga ngexesha lesigigaba.

Ngenxa yokuchasana rhoqo, izihlunu ezichaphazeleka yi-myotonia zihlala zikhangeleka zichanekile kwaye zomelele, kodwa unokufumana ukuba unokusebenzisa kuphela amandla okanye ungasebenzisi mandla usebenzisa ezi zihlunu.

I-Myotonia ibangela umonakalo ongapheliyo kwiimeko ezininzi. Abanye abantu abanesifo seGamstorp ekugqibeleni basebenzisa izitulo ezinamavili ngenxa yokonakala kwemisipha yomlenze.

Unyango lunokuthintela okanye ukuguqula ubuthathaka obuqhubekayo bomsipha.

Zithini izizathu zesifo seGamstorp?

Isifo seGamstorp sisiphumo sokutshintsha, okanye ukutshintsha, kwimfuza ebizwa ngokuba yi-SCN4A. Olu hlobo linceda ukuvelisa amajelo esodiyam, okanye imingxunya yokuvuleka kwemicroscopic apho isodium ihamba ngeeseli zakho.

Imisinga yombane eveliswa ziimolekyuli ezahlukeneyo zesodium kunye neepotassium ezidlula kwiimbumba zeseli ezilawula intshukumo yemisipha.

Kwisifo seGamstorp, la majelo anokuphazamiseka emzimbeni okubangela ukuba i-potassium iqokelele kwelinye icala lembumba yeseli kwaye yakhe egazini.

Oku kuthintela amandla ombane afunekayo ekwenzeni kwaye kubangele ukuba ungakwazi ukuhambisa umsipha ochaphazelekayo.

Ngubani osemngciphekweni wesifo seGamstorp?

Isifo se-Gamstorp sisifo esizuzwe njengelifa, kwaye silawula i-autosomal. Oku kuthetha ukuba ufuna ikopi enye kuphela yemfuza eguqulweyo ukuze ube nesi sifo.

Kukho ithuba leepesenti ezingama-50 lokuba ube nemfuza ukuba omnye wabazali bakho uphethe. Nangona kunjalo, abanye abantu abane-gene abaze babe neempawu.

Isifo seGamstorp sifunyaniswa njani?

Ukufumanisa isifo se-Gamstorp, ugqirha wakho uya kuqala akhuphe izifo ze-adrenal ezifana nesifo se-Addison, esenzeka xa i-adrenal gland yakho ingavelisi ngokwaneleyo i-hormone cortisol kunye ne-aldosterone.

Baza kuzama nokuzikhusela kwizifo zezintso ezinokubangela amanqanaba e potassium angaqhelekanga.

Nje ukuba bakhuphe ngaphandle kwezi ngxaki ze-adrenal kunye nezifo zezintso ezizuzwe njengelifa, ugqirha wakho angakuqinisekisa ukuba sisifo seGamstorp ngovavanyo lwegazi, uhlalutyo lwe-DNA, okanye ngokuvavanya i-serum electrolyte yakho kunye namanqanaba e-potassium.

Ukuvavanya la manqanaba, ugqirha wakho unokukwenza iimvavanyo ezibandakanya ukuzivocavoca ngokulinganayo okulandelwa ukuphumla ukuze ubone indlela amanqanaba akho e-potassium atshintsha ngayo.

Ukulungiselela ukubona ugqirha wakho

Ukuba ucinga ukuba unokuba nesifo seGamstorp, kunokukunceda ukugcina idayari ilandelela amanqanaba akho amandla yonke imihla. Kuya kufuneka ugcine amanqaku malunga nemisebenzi yakho kunye nokutya ngezo ntsuku ukunceda ukumisela okubangela kwakho.

Kuya kufuneka uzise naluphi na ulwazi onokuluqokelela malunga nokuba unembali yosapho okanye isifo.

Luthini unyango lwezifo zeGamstorp?

Unyango lusekwe kubukrakra kunye nokuhamba rhoqo kweziqendu zakho. Amayeza kunye nezongezelelo zisebenza kakuhle kubantu abaninzi abanesi sifo. Ukuphepha izinto ezithile ezibangela ukusebenzela abanye.

Amayeza

Uninzi lwabantu kufuneka luxhomekeke kumayeza ukulawula uhlaselo lokukhubazeka. Elinye lawona mayeza aqhelekileyo amiselweyo yi-acetazolamide (Diamox), edla ngokusetyenziswa ukulawula ukuxhuzula.

Ugqirha wakho unokumisela i-diuretics ukunciphisa i-potassium egazini.

Abantu abane-myotonia ngenxa yesifo banokunyangwa besebenzisa iidosi eziphantsi zamachiza afana ne-mexiletine (Mexitil) okanye i-paroxetine (Paxil), encedisa ukuzinzisa ukukhululeka kwemisipha.

Unyango lwasekhaya

Abantu abafumana iziqendu ezinobulali okanye ezingaqhelekanga ngamanye amaxesha banokunqanda uhlaselo lokukhubazeka ngaphandle kokusebenzisa amayeza.

Unokongeza izongezo zamaminerali, ezinje ngecalcium gluconate, kwisiselo esimnandi ukumisa isiqendu esincinci.

Ukusela iglasi yamanzi eetoni okanye ukuncanca kwisiqwenga seelekese ezinzima kwiimpawu zokuqala zesiqendu esikhubazekileyo kunokunceda ngokunjalo.

Ukujamelana nesifo seGamstorp

Ukutya okune-potassium enezinto okanye iindlela ezithile zokuziphatha ezinokubangela iziqendu. I-potassium eninzi egazini iya kubangela ubuthathaka bemisipha nakubantu abangenaso isifo seGamstorp.

Nangona kunjalo, abo banesi sifo banokusabela kutshintsho oluncinci kakhulu kumanqanaba e-potassium angenakuchaphazela umntu ongenaso isifo seGamstorp.

Iziphumo eziqhelekileyo zibandakanya:

• iziqhamo eziphezulu kwi-potassium, ezinjengeebhanana, iiapilkosi, kunye neerasentyisi
• imifuno enezinto ezinjenge potassium, njengespinatshi, iitapile, ibroccoli kunye nekholifulawa
• iilentile, iimbotyi namandongomane
• utywala
• ixesha elide lokuphumla okanye ukungasebenzi
• ukuhamba ixesha elide ungatyanga
• kubanda kakhulu
• ubushushu obugqithisileyo

Asinguye wonke umntu onesifo seGamstorp oya kuthi abe nezinto ezifanayo. Thetha nogqirha wakho, kwaye uzame ukurekhoda imisebenzi yakho kunye nokutya kwidayari ukunceda ukumisela okona kubangela okuthile.

Ithini imbono yexesha elide?

Ngenxa yokuba isifo seGamstorp sililifa, awunakukuthintela. Nangona kunjalo, unokumodareyitha iziphumo zale meko ngokulawula ngononophelo umngcipheko wakho. Ukwaluphala kunciphisa ukuhamba kweziqendu.

Kubalulekile ukuba uthethe nogqirha wakho malunga nokutya kunye nemisebenzi enokubangela iziqendu zakho. Ukuphepha izinto ezibangela iziqendu zokukhubazeka kunokunciphisa imiphumo yesifo.