Casharka 58aad

 Habdhiska dheefshiidka (digestive system).

Casharka 57aad

Hemochromatosis

 Waa xad-dhaafka birta jirka ku keydsanta, badanaa waxay saameysaa beerka, wadnaha, gacana, iyo kala goysyada. Taasoo keeneysaa dhaawac iyo shaqo xumo xubneed. Badanaa waxa keenna hidda sidaha (HFE). Caadiyan birta waxa nidaamsho oo nuugga xiidmaha yaryar. Xad dhaafka birta waxay carqaladeysaa isku dheellirka shaqada xubanah qaar.

Birta waxay door muhiim ah ka ciyaartaa hawlaha kala duwan ee jirka, oo ay ku jirto caawinta soo saarista dhiigga. Si kastaba ha ahaatee, birta badan waxay noqon kartaa sun jirka dhibaata u geysata.

Horumoonka beerka ka soo sii daayo oo lagu magacaabo hepcidin ayaa xakameeya sida birta jirka loogu isticmaalo looguna nuugo. Wuxuu sidoo kale xakameeyaa sida birta dheeraadka ah loogu kaydiyo xubnaha kala duwan ee jirka. Xaaladda cudurka hemochromatosis, doorka hepcidin ayaa saameyn ku yeelata, taasoo keenta in jirku nuugo bir aad uga badan inta uu u baahan yahay.

Birtan dheeraadka ah waxaa lagu kaydiyaa xubnaha waaweyn, gaar ahaan beerka. Muddo sannado ah, birta kaydsan waxay keeni kartaa dhaawac daran oo sababa in xubnuhu fashilmaan. Sidoo kale waxay sababi kartaa cudurro waqti dheer socda, sida 'adkaanshaha beerka' sonkorowga, iyo wadne-fashillanka

 Dad badan ayaa leh isbeddello hidde-sideed oo sababa hemochromatosis, hase yeeshee, qof walba oo leh isbeddeladaas ma la kulmo heerka birta oo si xad-dhaaf ah u urura oo keena dhaawac xubnaha iyo unugyada.

HFE Gene Mutation:  waxa keenna isbeddelka hidda sidaha gaar ahaan C282Y  waxa uu xumeynayaa awoodda lagu nidaamin lahaa nuugitaanka birta. Caadiyan borotiinkan waxa uu la falgalaa qaabilaha(hepcidin) qaabilahaas waxa uu  xidhayaa hannaanka nuugitaanka.

Hepcidin Dysregulation: nidaamiya birta( hepcidin) waxa burburin lagu sameynayaa ferroportin, haddii uu hooseeyo heerka hepcidin waxa uu horseedayaa in la xakaameyn waayo nuugitaanka birta, xaddiga meelaha jirka looga keydiyo wey ku badan kartaa wayna ku yaraan kartaa.

Iron Overload: xad dhaafka birta ku ururta jirka taasoo keeneysaa in laga saari waayo jirka, waqti dheer kaddib waxay keeneysaa qalqal,  taasoo keeneysaa in ay unugyada dhaawacmaan, taasoo ka dhalaneysa inuu beerka adkaado. Ku ururka beerka  waxa keeneysaa in ay dhaawacmaan unugyada beerka taasoo keeneysaa adkaansha beerka, kansarka beerka.

 Chronic Blood Transfusions:  qofka waqti dheer dhiigga lagu shubbo  sida qofka qaba xanuunka thalassemia ( waa xanuunnada hidda sidaha ee dhiigga ku dhaca, kaasoo la soo saari waayo maadada qaada ogsijiinta).  Taasoo keeneysaa qofka marka lagu shubbo dhiig xad dhaaf in jirka ku badato birta gaar ahaan beerka.

 Iron Supplements: xaddi badan birta in la qaato, taasoo keeneysa xaddi badan bir in ay jirka ku ururto. Haddii uu qofka qabo cuddarada qaar.

Chronic Liver Disease: xanuunnada raagga beerka, sida hefeefka beerka. Adkaansha beerka. Duxda ku ururta beerka. Waxay keeneysaa in ay xumaato dheefsashada birta. Taasoo keeneysa xad dhaafka birta 

Excessive Dietary Iron: qofka oo cunna cunooyinka ay ku badan tahay birta, sida hilibka guduudan, waxay ka qabeyqaadaneysaa  kororka birta, gaar ahaan dadka hidda sidahooda uu isbeddelka ku yimid.

Calaamadaha. 

1: Daal, dafiicnimo, kala goys xanuun, miiska oo luma.

2:Liver: beerka waxay ku keeneysaa inuu weynaado, inuu adkaado, iyo kansarka beerka.

 3:Skin:  maqaarka waxa ku keeneysaa inuu ku bato midabeynta(bronze skin).

4:Heart:  wadnaha waxay ku keentaa korontada wadnaha oo qaldanta, iyo Fashillanka wadnaha.

5:Endocrine: habdhiska qanjirka waxay ku keeneysaa xanuunka macaanka, gaasoo dhaawac gaaraya gacana, gacana waxa uu soo daayaa maadada sokorta xakameysa, hami yari, dhiigga caadada gabadha weysa.

6:Abdominal Pain: calool xanuun, kaasoo la xidhiidha weyninka beerka, ama adkaanshaha beerka.

Baadhitaanka. 

1:Serum Ferritin Levels: waxa la badhayaa heerka ferritin.Transferrin Saturation:  haddii uu ka bato 45%  waxay muujineysaa inuu jirro bir badan.

 

2:Genetic Testing:  waxa loo dirayaa hubbinta hidda sidaha si markaasi go'aan looga gaaro kororka birta jirka.(C282Y/H63D).

3:Liver Biopsy:  waxa laga qaadayaa cad si beerka loo hibbiyo heerka adkaansha beerka. Taasoo muujineysa xaddiga birta.

4:Liver Function Tests:  waxa la fiirinayaa shaqada dheecannada beerka sid markaasi loo hubbiyo haddii uu jirro kansarka beerka, xanuunno kale.

Daaweynta. 

1:Phlebotomy:  waxa la sameynayaa in bukaanka dhiigga laga daadsho. Si markaasi loo yareeyo xaddiga badan birta. 

Haddii aanu bukaanka awooddin ama u adkeysan karin, dhiig daadinta, uu qabo qeyb ka mid ah dhiigyarida,waxa la siinayaa dawooyinkan Deferoxamine, deferasirox, iyo deferiprone. Kuwaasoo fuddudeynaya in ay kaadida soo raacdo birta,ama saxarada. 

Qofka waxa uu ka fogaanayaa qaadashada birta. Waxa uu yareynayaa qaadashada cunnada ay ku badan tahay birta, sida hilibka guduudan. Waxa uu ka foogaanayaa cabida qamriga, kaasoo dhaawaca beerka.

References:

Books:

Harrison's Principles of Internal Medicine (Latest Edition): Comprehensive reference for the diagnosis and management of hemochromatosis.

Sleisenger and Fordtran's Gastrointestinal and Liver Disease: Provides detailed information on liver-related manifestations of iron overload.

Current Medical Diagnosis and Treatment: Offers practical approaches to diagnosis and management.

Online Resources:..

Amboss: Provides detailed pathophysiology, genetic information, and treatment guidelines for hemochromatosis.

Medscape: Offers in-depth clinical updates on diagnosis and treatment, including management of complications.

National Library of Medicine (PubMed): Access to the latest research articles and reviews on the molecular genetics and clinical manifestations of hemochromatosis.

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