Le ngxaki ezuze ilifa iyakuthintela ukungena kwe-electrolytes
I-Gitelman syndrome yintlupheko yesifo seentlungu esichazwe ngamaqondo aphantsi e-potassium kunye ne-magnesium egazini kunye nokuncipha kwe-calcium kumchamo. I-Gitelman syndrome ibangelwa ukuguquka kwemfuzo echaphazela uhlobo lweprotheni olufunekayo ukuthutha lawa kunye nezinye i- electrolytes ngokusebenzisa iimbumba zezintso.
Kuqikelelwa ukuba i-Gitelman syndrome iyenzeka kwenye yezigidi ezingama-40,000, echaphazela amadoda kunye nabesifazane bazo zonke iintlanga.
Akukho nonyango ye-Gitelman syndrome.
Izizathu
Phantse iipesenti ezingama-80 zazo zonke iimeko zidibene nokuguqulwa kohlobo oluthile olubizwa ngokuba ngu-SLC12AC. Oku kuphazamiseka ngqo kukuchaphazela into ebizwa ngokuthi i-sodium-chloride cotransporter (i-NCCT), umsebenzi wayo ukubuyisela kwakhona i-sodium kunye ne-chloride ukusuka kumanzi asetsheni. Nangona ukuguqulwa kwe-SLC12AC yiyona nto ibangelwa yi-Gitelman syndrome, malunga ne-180 nezinye iinguqu zatshintshiweyo.
Umphumo wesibini we-SLC12AC ukuguqulwa komzimba kukunyuka kwe-calcium reabsorption kwizintso. Nangona le mpawu ifumaneka kwi-malabsorption ye-magnesium kunye ne-potassium, izazinzulu azikaqinisekanga ngokupheleleyo ukuba kutheni kwenzeka le nto.
Iimpawu
Abantu abaneGitelman syndrome maxa wambi bangabikho mpawu. Xa bahlakulela, bavame ukubonakala emva kweminyaka emithandathu.
Uluhlu lweempawu luhambelana ngqo ne- potassium ephantsi (hypokalemia), i-magnesium ephantsi (hypomagnesemia), i-chloride ephantsi (i-hypochloremia), kunye ne-calcium ephezulu (hypercalcemia), ngokubambisana neqondo eliphantsi le-pH.
Iimpawu eziqhelekileyo zeGitelman ziquka:
- Ubuthakathaka jikelele
- Ukukhathala
- Ukunyanyiswa kwemizimba
- Ukuchama okugqithiseleyo okanye ukucoka ebusuku
- Iinqwenela zetyuwa
Ngokuqhelekanga, abantu banokuva ubunzima besisu, ukuhlanza, isifo sohudo, ukunqandwa, okanye umkhuhlane. Ukuqubuka kunye ne-facture paresthesia (ukulahlekelwa kwintlungu ebusweni) sele kwaziwa ngokuba kwenzeka.
Abanye abantu abadala abane-Gitelman syndrome bangaphinda bahlakulele i- chondrocalcinosis , uhlobo lwe-pseudo-arthritis ebangelwa ukubunjwa kwamakhemikhali e-calcium kwizicubu ezinxulumene.
Ukuxilongwa
I-Gitelman syndrome ifunyaniswa ngokusekelwe ekuhlolweni kwangokwenyama, ukuhlaziywa kweempawu, kunye neziphumo zegazi kunye nokuhlaziywa komchamo. Iziphumo zeBhodi ziza kubonisa:
- Amanqanaba aphantsi e-potassium egazini
- Amanqanaba aphantsi kwe-magnesium egazini
- Amanqanaba aphantsi e-calcium kumchamo
I-Gitelman syndrome ibonakala rhoqo ngexesha lokuhlolwa kwegazi ngokuqhelekileyo xa kufikeleleka amanqanaba e-potassium angabonakaliyo. Xa oko kwenzeka, oogqirha benza iimvavanyo ezongezelelweyo ukuqinisekisa ukuba yi-Gitelman syndrome, isifo esichaphazelekayo esibizwa ngokuba yi- Bartter syndrome , okanye ezinye izifo ezinokwenzeka.
Unyango
Unyango lwe-Gitelman syndrome lujoliswe ekulawuleni impawu. I-Potassium kunye nesongezelelo se-magnesium yinto ephambili yonyango, esoloko imiselwe kumanqanaba amakhulu (kuba isoloko idityaniswe kumchamo). Ngexesha leengxowankulu ezinkulu ze-muscle spasm, i-magnesium inokuhanjiswa kwangaphakathi.
Abantu abafumene i-Gitelman syndrome, enoba zibonakaliswe okanye zingekho, zicebiswa ngeendlela zokugcina amanqanaba enempilo ye potassium, i-magnesium, i-sodium kunye ne-chloride. Ezi ziquka ukutshintsha kwezinto zokutya kunye nokusetyenziswa okufanelekileyo kwe- potassium-sparing diuretics ukukhupha amanzi ngokucoca kodwa ugcine i-potassium.
> Umthombo:
> Knoer, N. noVevtchenko, E. "I-Gitelman syndrome." I-Orphanet Journal ye-Rare Diseases. 2008: 3:22.