I-Alkaptonuria

I-Alkaptonuria yisimo esingajwayelekile lapho umchamo womuntu uphenduka umbala omnyama onsundu ngokugqamile lapho uvezwa emoyeni. I-Alkaptonuria iyingxenye yeqembu lezimo ezaziwa njengephutha lokuzalwa lomzimba.

Iphutha kufayela le- I-HGD Isakhi sofuzo sibangela i-alkaptonuria.

Ukukhubazeka kofuzo kwenza umzimba ungakwazi ukwehlukanisa kahle ama-amino acid (i-tyrosine ne-phenylalanine). Ngenxa yalokho, into ebizwa nge-homogentisic acid yakha esikhunjeni nakwezinye izicubu zomzimba. I-asidi ishiya umzimba ngomchamo. Umchamo uphenduka ube nsundu ngokubomvu uma uxubana nomoya.

I-Alkaptonuria izuzwe njengefa, okusho ukuthi idluliselwa emindenini. Uma bobabili abazali bephethe ikhophi engasebenziyo yofuzo oluhlobene nalesi simo, ingane ngayinye inethuba lama-25% (1 koku-4) lokuthola lesi sifo.

Umchamo enabukeni lengane ungaba mnyama futhi ungashintsha ucishe ube mnyama emva kwamahora amaningana. Kodwa-ke, abantu abaningi abanalesi simo kungenzeka bangazi ukuthi banaso. Lesi sifo sivame ukutholakala maphakathi nokuba mdala (cishe eminyakeni engama-40), lapho kuvela izinkinga ezihlangene nezinye.

Izimpawu zingafaka:

• I-arthritis (ikakhulukazi yomgogodla) eba yimbi ngokuhamba kwesikhathi
• Ukwenza mnyama endlebeni
• Amabala amnyama kokumhlophe kweso kanye ne-cornea

Ukuhlolwa komchamo kwenziwa ukuze kuhlolwe i-alkaptonuria. Uma kufakwa i-ferric chloride emchameni, izoshintsha umchamo ube mnyama kubantu abakulesi simo.

Ukuphathwa kwe-alkaptonuria ngokwesiko bekugxilwe ekulawuleni izimpawu. Ukudla ukudla okunamaprotheni amancane kungasiza, kepha abantu abaningi bakuthola kunzima lokhu kuvinjelwa. Imithi, efana nama-NSAID kanye nokwelashwa ngokomzimba kungasiza ekunciphiseni ubuhlungu obuhlangene.

Ukuhlolwa komtholampilo kuyaqhubeka kweminye imishanguzo yokwelapha lesi simo nokuhlola ukuthi ingabe umuthi i-nitisinone unikeza usizo lwesikhathi eside ngalesi sifo.

Umphumela kulindeleke ukuthi ube muhle.

Ukwakhiwa kwe-homogentisic acid kuqwanga kubangela isifo samathambo kubantu abadala abaningi abane-alkaptonuria.

• I-Homogentisic acid nayo ingakha kuma-valve enhliziyo, ikakhulukazi i-valve ye-mitral. Lokhu kwesinye isikhathi kungaholela esidingweni sokushintshwa kwe-valve.
• Isifo semithambo yegazi singakhula ekuqaleni kwempilo kubantu abane-alkaptonuria.
• Amatshe ezinso namatshe e-prostate angavame kakhulu kubantu abane-alkaptonuria.

Shayela umhlinzeki wakho wezokunakekelwa kwezempilo uma ubona ukuthi umchamo wakho noma umchamo wengane yakho uba nsundu noma ube mnyama uma uvezwa umoya.

Ukwelulekwa ngofuzo kunconyelwe abantu abanomlando womndeni we-alkaptonuria abacabanga ukuba nezingane.

Ukuhlolwa kwegazi kungenziwa ukubona ukuthi ngabe uphethe isakhi se-alkaptonuria.

Ukuhlolwa kokubeletha (i-amniocentesis noma i-chorionic villus sampling) kungenziwa ukuhlola ingane ekhulayo ngalesi simo uma kutholakala ushintsho lofuzo.

AKU; I-Alcaptonuria; Ukushoda kwe-homogentisic acid oxidase; I-Alcaptonuric ochronosis

UJames WD, u-Elston DM, Phatha i-JR, i-Rosenbach MA, i-IM ye-Neuhaus. Izifo ze-Mycobacterial. Ku: James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM, eds. Izifo zika-Andrews ’Zesikhumba. Umhlaka 13. IPhiladelphia, PA: Elsevier; 2020: isahluko 16.

IKliegman RM, iSt. Geme JW, iBlum NJ, i-Shah SS, iTasker RC, iWilson KM. Amaphutha ku-metabolism yama-amino acid. Ku: Kliegman RM, St Geme JW, Schor NF, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahl. 103.

Izikhungo Zezempilo Zikazwelonke, Umtapo Wezincwadi Kazwelonke Wezokwelapha. Ucwaningo lwesikhathi eside lwe-nitisinone ukwelapha i-alkaptonuria. clinicaltrials.gov/ct2/show/NCT00107783. Kubuyekezwe uJanuwari 19, 2011. Kufinyelelwe ngoMeyi 4, 2019.

URiley RS, uMcPherson RA. Ukuhlolwa okuyisisekelo komchamo. Ku: McPherson RA, Pincus MR, abahleli. UHenry’s Clinical Diagnosis and Management by Laboratory Methods. Umhla ka-23. ISt Louis, MO: Elsevier; 2017: isahluko 28.