Menene Gitelman Syndrome?

Wannan mummunar cuta ta haifar da rinjayar masu rinjaye

Gitelman ciwon ciwo shine cututtukan koda da aka haifa wanda ke dauke da ƙananan potassium da magnesium a cikin jini kuma ya rage yawanci daga cikin allura a cikin fitsari. Gitelman ciwo yana haifar da maye gurbin kwayoyin da ke shafi irin nau'in gina jiki wanda ake buƙatar ɗaukar waɗannan da sauran masu zafin jiki ta hanyar ƙwayoyin kodan.

An kiyasta cewa ciwon Gitelman yana faruwa a cikin kowane mutum 40,000, yana shafi maza da mata na kowane kabila.

Babu magani ga cutar Gitelman.

Dalilin

Kusan kashi 80 cikin dari na dukkan lokuta suna hade da wani maye gurbin kwayoyin da ake kira SLC12AC. Wannan anomaly kai tsaye yana shafar wani abu da ake kira sodium-chloride cotransporter (NCCT), wanda aikinsa shine ya mayar da sodium da chloride daga ruwaye a cikin kodan. Yayinda maye gurbin SLC12AC shine mawuyacin matsalar Gitelman ciwo, kimanin 180 an sake maye gurbin.

Matsayi na biyu na maye gurbin SLC12AC shine karuwa a cikin kwayoyin reabsorption a koda. Duk da yake wannan sakamako yana da nasaba da malabsorption na magnesium da potassium, masana kimiyya ba har yanzu cikakke yadda ta yaya ko dalilin da ya sa wannan ya faru.

Cutar cututtuka

Mutanen da ke fama da ciwo na Gitelman na iya samun kwarewa a wani lokaci. Lokacin da suke ci gaba, ana ganin su sau da yawa bayan shekaru shida.

Tsarin bayyanar cututtuka yana da dangantaka da potassium maras nauyi (hypokalemia), low magnesium (hypomagnesemia), low chloride (hypochloremia), da kuma high calcium (hypercalcemia), a haɗe da matakin low pH.

Gitelman mafi yawan alamun sun hada da:

Mafi yawanci, mutane na iya fuskanci ciwo na ciki, vomiting, zawo, maƙarƙashiya, ko zazzaɓi. An kuma san cewa an gano shinge da fuska (fuskar hasara ta fuska).

Wasu tsofaffi tare da ciwo na Gitelman na iya haifar da chondrocalcinosis , wani nau'i na kwayar cutar da ke haifarwa ta hanyar kirkiro lu'ulu'u mai kwakwalwa a cikin kyamarorin haɗi.

Sanin asali

Gitelman ciwon daji ne aka gano bisa ga binciken jiki, nazari akan alamun cututtuka, da kuma sakamakon binciken jini da fitsari. Lab sakamakon Lab zai nuna yawanci:

Gitelman ciwo sau da yawa yakan bayyana a lokacin gwajin jini na yau da kullum lokacin da aka gano matakan da ba a rage su ba. Lokacin da wannan ya faru, likitoci sunyi ƙarin gwaje-gwaje don gano ko cutar Gitelman ne, cutar da ake kira Bartter ciwo , ko wasu cututtuka masu yiwuwa.

Jiyya

Jiyya na ciwo Gitelman an mayar da shi ne a kan tsarin gudanarwa. Maganin potassium da magnesium shine mahimmin magani, sau da yawa an tsara shi a cikin manyan allurai (tun lokacin da ake kai su a cikin fitsari). A lokacin raunin haɗari na ƙwayar tsoka, magnesium za a iya fitowa cikin intravenously.

Mutanen da aka gano tare da ciwo na Gitelman, ko bayyanar ko a'a, ana ba da shawara kan hanyoyi don kula da lafiyar lafiya, magnesium, sodium, da kuma chloride. Wadannan sun hada da canje-canjen abincin nasu da kuma dacewa da amfani da tsire-tsire-tsire-tsire-tsire-tsire-potassium zuwa ruwa mai zurfi ta hanyar urination amma riƙe potassium.

> Source:

> Knoer, N. da Levtchenko, E. "Gitelman ciwo." Jaridar Orphanet of Rare Diseases. 2008: 3:22.