Alkaptonuria

Alkaptonuria wani yanayi ne mai wuya wanda fitsarin mutum ke juya launin launin ruwan kasa mai duhu-baƙi lokacin da iska ta same shi. Alkaptonuria ɓangare ne na rukuni na yanayin da aka sani da kuskuren da aka haifa na canzawa.

Wani lahani a cikin HGD kwayar halitta tana haifar da alkaptonuria.

Raunin kwayar halitta ya sa jiki ya kasa lalata wasu amino acid (tyrosine da phenylalanine). A sakamakon haka, wani sinadari da ake kira homogentisic acid ya taso a cikin fata da sauran kayan jikin mutum. Acid din yana fita daga jiki ta hanyar fitsari. Fitsarin yakan zama baƙi-baƙi idan ya gauraya da iska.

Alkaptonuria ya gaji, wanda ke nufin an wuce shi ta cikin dangi. Idan iyaye biyu suna dauke da kwayar halittar da ba ta aiki ba dangane da wannan yanayin, kowane ɗayansu na da damar 25% (1 cikin 4) na cutar.

Fitsari a cikin kyallen jariri na iya yin duhu kuma zai iya zama kusan baƙi bayan sa'o'i da yawa. Koyaya, mutane da yawa masu wannan yanayin bazai san suna da shi ba. Ana gano cutar sau da yawa a lokacin tsufa (kusan shekara 40), lokacin haɗin gwiwa da sauran matsaloli.

Kwayar cutar na iya haɗawa da:

• Arthritis (musamman na kashin baya) wanda ke ƙara lalacewa a tsawon lokaci
• Duhun kunne
• Raƙuman duhu a kan farin ido da cornea

Ana yin gwajin fitsari don gwajin alkaptonuria. Idan aka kara ferric chloride a cikin fitsarin, zai mayar da fitsarin baƙar fata ga mutanen da ke da wannan yanayin.

Gudanar da alkaptonuria a al'adance ana mai da hankali ne kan sarrafa alamomin. Cin abinci mai ƙarancin furotin na iya zama da taimako, amma mutane da yawa suna ganin wannan ƙuntatawa yana da wahala. Magunguna, irin su NSAIDs da magungunan jiki na iya taimakawa rage ciwon haɗin gwiwa.

Gwajin asibiti na gudana don sauran kwayoyi don magance wannan yanayin da kuma tantance ko maganin nitisinone yana ba da taimako na dogon lokaci tare da wannan rashin lafiya.

Ana sa ran sakamakon zai zama mai kyau.

Girman haɓakar homogenisic a cikin guringuntsi yana haifar da amosanin gabbai a cikin manya da yawa tare da alkaptonuria.

• Homogentisic acid shima na iya ginawa akan bawul na zuciya, musamman ma mitral bawul. Wannan na iya haifar da wani lokacin buƙatar maye gurbin bawul.
• Ciwon jijiyoyin jijiyoyin jiki na iya haɓaka a farkon rayuwa cikin mutanen da ke da cutar alkaptonuria.
• Duwatsun koda da duwatsu na prostate na iya zama sananne a cikin mutanen da ke dauke da cutar alkaptonuria

Kira wa mai ba da lafiyar ku idan kun lura cewa fitsarinku ko fitsarin yaronku ya zama ruwan kasa mai duhu ko baƙi lokacin da iska ta same shi.

Ana ba da shawara kan kwayoyin halitta don mutanen da ke da tarihin iyali na alkaptonuria waɗanda ke yin la'akari da samun yara.

Za'a iya yin gwajin jini don ganin idan kuna ɗauke da kwayar cutar ta alkaptonuria.

Ana iya yin gwajin haihuwa (amniocentesis ko chorionic villus Sampling) don yiwa jaririn da ke tasowa wannan yanayin idan an gano canjin halittar.

AKU; Alcaptonuria; Raunin karancin sinadarin homoogentisic acid; Ciwan Alcaptonuric

James WD, Elston DM, Kula da JR, Rosenbach MA, Neuhaus IM. Cututtukan Mycobacterial. A cikin: James WD, Elston DM, Kula da JR, Rosenbach MA, Neuhaus IM, eds. Cututtukan Andrews na Fata. 13th ed. Philadelphia, PA: Elsevier; 2020: babi na 16.

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Laifi a cikin metabolism na amino acid. A cikin: Kliegman RM, St. Geme JW, Schor NF, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi na 103.

Cibiyoyin Lafiya na Kasa, Makarantar Magunguna ta Kasa. Nazarin dogon lokaci na nitisinone don magance alkaptonuria. clinicaltrials.gov/ct2/show/NCT00107783. An sabunta Janairu 19, 2011. An shiga Mayu 4, 2019.

Riley RS, McPherson RA. Binciken asali na fitsari. A cikin: McPherson RA, Pincus MR, eds. Henry's Clinical Diagnosis and Management by Hanyoyin Laboratory. 23 ga ed. St Louis, MO: Elsevier; 2017: babi na 28.