Lesi sifo esizuze njengefa sithintela ukungena kwe-electrolytes
I-Gitelman syndrome yinkinga yezinso ezizuze njengefa elibhekene namazinga aphansi we-potassium ne-magnesium egazini futhi yehla ukuphuma kwe-calcium emcinini. I-Gitelman syndrome ibangelwa ukuguquguquka kwezakhi zofuzo ezithinta uhlobo lweprotheyini oludingekayo ukuhambisa lezi nezinye electrolytes ngokusebenzisa izibilini zezinso.
Kulinganiselwa ukuthi i-Gitelman syndrome iyenzeka kwenye yabantu abangu-40 000, ethinta abesilisa nabesifazane bazo zonke izizinda.
Ayikho ikhambi ye-Gitelman syndrome.
Izimbangela
Amaphesenti angaba ngu-80 azo zonke izimo ahlotshaniswa nokushintshashintsha kwezakhi zofuzo ezibizwa ngokuthi i-SLC12AC. Lokhu kuphazamiseka ngqo kuthinta into ebizwa ngokuthi i-sodium-chloride cotransporter (i-NCCT), umsebenzi wayo ukubuyisela kabusha i-sodium ne-chloride kusuka kwamanzi aphuma ezintsheni. Nakuba ukuguquguquka kwe-SLC12AC yiyona imbangela enkulu ye-Gitelman syndrome, ezinye ezingu-180 ezinye zinguquko zenzeke.
Umphumela wesibili wokuguquguquka kwe-SLC12AC ukwanda kwe-calcium ukuphindaphinda kabusha kwezinso. Nakuba le mphumela ixhunyaniswe ne-malabsorption ye-magnesium ne-potassium, ososayensi namanje abakwazi ngokuphelele ukuthi kungani kwenzeka lokhu noma kungani.
Izimpawu
Abantu abane-Gitelman syndrome ngezinye izikhathi bangaboni izibonakaliso nhlobo. Uma bekhula, bavame ukubonakala ngemva kweminyaka eyisithupha.
Ububanzi bezimpawu buhlobene ngokuqondile ne- potassium ephansi (hypokalemia), i-magnesium ephansi (i-hypomagnesemia), i-chloride ephansi (hypochloremia), ne-calcium ephakeme (hypercalcemia), ngokubambisana nezinga eliphansi le-pH.
Izimpawu ezivamile kakhulu zeGitelman zihlanganisa:
- Ububuthakathaka jikelele
- Ukukhathala
- I-muscle cramping
- Ukuvuthwa ngokweqile noma ukuchama ebusuku
- Izifiso zosawoti
Ngokuvamile, abantu bangase babheke ubuhlungu besisu, ukuhlanza, isifo sohudo, ukuqothulwa noma umkhuhlane. I-paresthesia yokuhlukunyezwa nokubukeka (ukulahlekelwa kwesifo ebusweni) kuye kwaziwa nokuthi kwenzeke.
Abanye abantu abadala abane-Gitelman syndrome nabo bangase bahlakulele i- chondrocalcinosis , uhlobo lwe-pseudo-arthritis elibangelwa ukwakheka kwamakhadi e-calcium ezicubu ezixhunyiwe.
Ukuxilongwa
I-Gitelman syndrome ixilongwa ngokusekelwe ekuhloleni ngokomzimba, ukubuyekezwa kwezimpawu, kanye nokuhlaziya kwegazi kanye nomchamo. Imiphumela yeLab izobonisa ngokuvamile:
- Amazinga aphansi e-potassium egazini
- Amazinga aphansi we-magnesium egazini
- Amazinga aphansi e-calcium emcinini
I-Gitelman syndrome ivame ukubonakala ngesikhathi sokuhlolwa kwegazi njalo lapho amazinga ajwayelekile angaphansi kwe-potassium atholakele. Uma lokhu kwenzeka, odokotela benza izivivinyo ezengeziwe ukuze baqinisekise ukuthi ngabe yi-Gitelman syndrome, isifo esihambisanayo esibizwa ngokuthi i- Bartter syndrome , noma ezinye izifo ezingenzeka.
Ukwelapha
Ukwelashwa kwe-Gitelman syndrome kugxile ekuphathweni kwezimpawu. I-potassium ne-magnesium supplementation yindlela yokwelapha esemqoka, evame ukubekwa emithini enkulu (njengoba ihlale ixilwe emcinini). Ngesikhathi sezinkinga ezinkulu ze-muscle spasm, i-magnesium ingathunyelwa ngaphakathi.
Abantu abatholwa nge-Gitelman syndrome, kungakhathaliseki ukuthi banezimpawu noma cha, bayelulekwa ngezindlela zokugcina amazinga aphilile we-potassium, i-magnesium, i-sodium, ne-chloride. Lokhu kufaka phakathi izinguquko zokudla kanye nokusetshenziswa okufanele kwe -diuretics-potassium-sparing ukukhipha amanzi ngokusebenzisa ukuchama kodwa ugcine i-potassium.
> Umthombo:
> Knoer, N. noLevitchenko, E. "Gitelman syndrome." I-Orphanet Journal of Rare Diseases. 2008: 3:22.