Alkaptonuria

Alkaptonuria ke boemo bo sa tloaelehang moo moroto oa motho o fetolang mmala o mosootho o bosootho bo bosootho ha a pepesetsoa moeeng. Alkaptonuria ke karolo ea sehlopha sa maemo a tsejoang e le phoso ea tlhaho ea metabolism.

Sekoli ho file HGD liphatsa tsa lefutso li baka alkaptonuria.

Bofokoli ba liphatsa tsa lefutso bo etsa hore 'mele o se khone ho senya li-amino acid tse ling (tyrosine le phenylalanine). Ka lebaka leo, ntho e bitsoang homogentisic acid e bokellana letlalong le lisele tse ling tsa 'mele. Asiti e siea 'mele ka moroto. Moroto o fetoha bosootho bo bosootho ha o tsoakana le moea.

Alkaptonuria e futsitsoe, ho bolelang hore e fetisoa ke malapa. Haeba batsoali ka bobeli ba jere kopi e sa sebetseng ea lefutso e amanang le boemo bona, ngoana e mong le e mong oa bona o na le monyetla oa 25% (1 ho 4) oa ho ba le lefu lena.

Moroto ka hara leleiri la lesea o ka fifala mme o ka fetoha o motsho kamora lihora tse 'maloa. Leha ho le joalo, batho ba bangata ba nang le boemo bona ba kanna ba se tsebe hore ba na le bona. Boloetse bona bo fumanoa hangata ha motho a le lilemong tsa ho ba motho e moholo (a ka ba lilemo li 40), ha mathata a kopaneng le a mang a etsahala.

Matšoao a ka kenyelletsa:

• Ramatiki (haholo-holo ea mokokotlo) e mpefalang ha nako e ntse e feta
• Ho fifala ha tsebe
• Matheba a lefifi bosoeu ba leihlo le cornea

Ho etsoa tlhahlobo ea moroto ho lekola alkaptonuria. Haeba ferric chloride e eketsoa morong, e tla fetola moroto o motšo ho batho ba nang le boemo bona.

Tsamaiso ea alkaptonuria ka tloaelo e tsepamisitse maikutlo ho laoleng matšoao. Ho ja lijo tse nang le protheine e tlase ho ka ba molemo, empa batho ba bangata ba thatafalloa ke thibelo ena. Meriana, e kang li-NSAID le kalafo ea 'mele e ka thusa ho kokobetsa bohloko ba manonyeletso.

Liteko tsa bongaka li ntse li tsoela pele bakeng sa lithethefatsi tse ling ho alafa boemo bona le ho lekola hore na sethethefatsi sa nitisinone se fana ka thuso ea nako e telele ka lefu lena.

Sephetho se lebelletsoe ho ba hantle.

Ho hahoa ha homogentisic acid lefufuru ho baka ramatiki ho batho ba bangata ba baholo ba nang le alkaptonuria.

• Homogentisic acid le eona e ka haha ​​li-valve tsa pelo, haholo-holo valve ea mitral. Sena ka linako tse ling se ka lebisa tlhoko ea phetisetso ea li-valve.
• Lefu la methapo ea mali le ka hlaha pele ho bophelo ho batho ba nang le alkaptonuria.
• Majoe a liphio le majoe a prostate a ka ba tloaelehileng ho batho ba nang le alkaptonuria.

Bitsa mofani oa hao oa tlhokomelo ea bophelo haeba u hlokomela hore moroto oa hau kapa moroto oa ngoana oa hau o ba sootho kapa o motšo ha o pepesetsoa moeeng.

Ho khothaletsoa tlhabollo ea lefutso ho batho ba nang le nalane ea malapa ea alkaptonuria ba nahanang ho ba le bana.

Ho ka etsoa tlhahlobo ea mali ho bona hore na o jere liphatsa tsa lefutso tsa alkaptonuria.

Liteko tsa bakhachane (amniocentesis kapa chorionic villus sampling) li ka etsoa ho lekola lesea le ntseng le hola bakeng sa boemo bona haeba phetoho ea lefutso e fumanoe.

AKU; Alcaptonuria; Khaello ea oxidase ea homogentisic acid; Alcaptonuric ochronosis

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Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Liphoso tsa metabolism ea amino acid. Ka: Kliegman RM, St. Geme JW, Schor NF, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 103.

Mekhatlo ea Naha ea Bophelo, Laebrari ea Naha ea Bongaka. Thuto ea nako e telele ea nitisinone ho phekola alkaptonuria. meriana ea bongaka.gov/ct2/show/NCT00107783. E ntlafalitsoe ka la 19 Pherekhong 2011. E fihlile ka la 4 Mots'eanong, 2019.

Riley RS, McPherson RA. Tlhahlobo ea mantlha ea moroto. Ka: McPherson RA, Pincus MR, bahlophisi. Henry's Clinical Diagnosis le Tsamaiso ka Mekhoa ea Laboraro. La bo23 la ed. St Louis, MO: Elsevier; 2017: khaolo ea 28.