IAlkaptonuria

IAlkaptonuria yimeko enqabileyo apho umchamo womntu uguqula umbala omnyama umdaka-mnyama xa evezwe emoyeni. IAlkaptonuria yinxalenye yeqela leemeko ezaziwa ngokuba yimpazamo yemetabolism.

Isiphene kwifayile ye- I-HGD Uhlobo kubangela alkaptonuria.

Isiphene semfuza senza ukuba umzimba ungabinakho ukwaphula ngokufanelekileyo ii-amino acid ezithile (i-tyrosine kunye ne-phenylalanine). Ngenxa yoko, into ebizwa ngokuba yi-homogentisic acid yakha eluswini nakwezinye izicubu zomzimba. Iasidi ishiya umzimba ngomchamo. Umchamo ujika ubemdaka ngombala xa uxubana nomoya.

IAlkaptonuria izuzwe njengelifa, oko kuthetha ukuba kudluliswa kwiintsapho. Ukuba bobabini abazali baphethe ikopi engasebenziyo yemfuza enxulumene nale meko, umntwana ngamnye kubo une-25% (1 in 4) ithuba lokuphuhlisa esi sifo.

Umchamo kwithwitha yosana unokumnyama kwaye unokujika ubemnyama emva kweeyure ezininzi. Nangona kunjalo, abantu abaninzi abanale meko abanokwazi ukuba banayo. Esi sifo sihlala sifunyanwa phakathi ebudaleni (malunga neminyaka engama-40), xa ukudibana kunye nezinye iingxaki zisenzeka.

Iimpawu zingabandakanya:

• IArthritis (ngakumbi yomqolo) eba mandundu ngokuhamba kwexesha
• Ubumnyama bendlebe
• Amabala amnyama kumhlophe wamehlo kunye ne-cornea

Uvavanyo lomchamo lwenziwa ukuvavanya i-alkaptonuria. Ukuba i-ferric chloride yongezwa kumchamo, iya kuguqula umchamo umnyama kubantu abakule meko.

Ulawulo lwe-alkaptonuria ngokwesiko lujolise kulawulo lweempawu. Ukutya ukutya okuneprotein encinci kunokuba luncedo, kodwa abantu abaninzi bakufumanisa kunzima ukuthintela oku. Amayeza, anjengee-NSAID kunye nonyango lomzimba lunokunceda ekuthomalaliseni iintlungu ezidibeneyo.

Uvavanyo lwezonyango luyaqhubeka kwamanye amayeza ukunyanga le meko kunye nokuvavanya ukuba ichiza le-nitisinone libonelela ngoncedo lwexesha elide kwesi sigulo.

Isiphumo kulindeleke ukuba sibe sihle.

Ukwakhiwa kwe-homogentisic acid kwi-cartilage kubangela isifo samathambo kubantu abadala abaninzi abane-alkaptonuria.

• I-homogentisic acid nayo inokwakhela kwiiveluvu zentliziyo, ngakumbi i-mitral valve. Ngamanye amaxesha kunokukhokelela kwisidingo sokutshintshwa kwevalve.
• Isifo somthambo seCoronary sinokukhula kwangoko ebomini kubantu abane-alkaptonuria.
• Amatye eentso kunye namatye e-Prostate anokuba yinto eqhelekileyo kubantu abane-alkaptonuria.

Fowunela umboneleli wakho wokhathalelo lwempilo ukuba uyaqaphela ukuba umchamo wakho okanye umchamo womntwana wakho uba mnyama mnyama okanye ube mnyama xa uvezwe umoya.

Ukucebisa ngemfuza kuyacetyiswa kubantu abanembali yosapho ye-alkaptonuria abacinga ngokuba nabantwana.

Uvavanyo lwegazi lunokwenziwa ukubona ukuba uyayiphatha imfuza ye-alkaptonuria.

Iimvavanyo zaphambi kokubeleka (i-amniocentesis okanye isampulu ye-chorionic villus) zinokwenziwa ukuvavanya umntwana okhulayo kule meko ukuba utshintsho oluchongiweyo luchongiwe.

AKU; Alcaptonuria; Ukuswela i-homogentisic acid oxidase; IAlcaptonuric ochronosis

UJames WD, u-Elston DM, nyanga i-JR, i-Rosenbach MA, i-IM ye-Neuhaus. Izifo zeMycobacterial. Ku: James WD, Elston DM, Phatha uJR, Rosenbach MA, Neuhaus IM, ii-eds. Izifo zikaAndrews zolusu. Umhla we-13. IPhiladelphia, PA: Elsevier; 2020: isahluko 16.

IKliegman RM, iSt. Geme JW, iBlum NJ, i-Shah SS, iTasker RC, uWilson KM. Iziphene kwimetabolism yeeamino acid. Ku: Kliegman RM, St Geme JW, Schor NF, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahl. 103.

Amaziko eSizwe ezeMpilo, kwiThala leLizwe lezeMpilo. Isifundo sexesha elide se-nitisinone ukunyanga i-alkaptonuria. kwiklinikhi.gov/ct2/show/NCT00107783. Ukuhlaziywa ngoJanuwari 19, 2011. Kufumaneka ngo-Meyi 4, 2019.

URiley RS, uMcPherson RA. Uvavanyo olusisiseko lomchamo. Ku: McPherson RA, Pincus MR, ii-eds. Ukuchongwa kweKlinikhi kaHenry kunye noLawulo ngeendlela zeLebhu. Umhla we-23. ISt Louis, MO: Elsevier; Ngo-2017: isahluko 28.