Isifo seLesch-Nyhan

Isifo seLesch-Nyhan sisifo esidluliswa ziintsapho (ezizuzwe njengelifa). Iyayichaphazela indlela umzimba owakha kwaye wophule ngayo imisonto. I-Purines yinxalenye eqhelekileyo yethishu yomntu enceda ukwenza iplani yemvelo yomzimba. Zikwafumaneka kukutya okuninzi okwahlukeneyo.

Isifo seLesch-Nyhan sidluliswa njengesixhobo esidityaniswe ne-X, okanye uphawu olunxulumene nesondo. Kwenzeka ikakhulu kubafana. Abantu abanesi sifo balahlekile okanye baswele kakhulu i-enzyme ebizwa ngokuba yi-hypoxanthine guanine phosphoribosyltransferase (HPRT). Umzimba uyayifuna le nto ukuze iphinde isebenze kwakhona i-purines. Ngaphandle kwayo, amanqanaba aphezulu ngokungaqhelekanga e-uric acid ayakha emzimbeni.

Iuric acid eninzi inokubangela ukudumba okufana nokuvuvukala kwamanye amalungu. Ngamanye amaxesha, izintso nezesinyi ziyakhula.

Abantu abaneLesch-Nyhan baye balibazisa ukukhula kwemoto kulandelwa ziintshukumo ezingaqhelekanga kunye nokunyuka kwengqondo. Olona phawu lubalulekileyo lweLesch-Nyhan syndrome kukuzenzakalisa, kubandakanya ukuhlafuna iincam zomlomo kunye nemilebe. Ayaziwa ukuba esi sifo sizibangela njani ezi ngxaki.

Kunokubakho imbali yosapho yale meko.

Umboneleli wezempilo uya kwenza uvavanyo lomzimba. Uviwo lunokubonisa:

• Ukwanda kwengqondo
• Ubuninzi (ukuba ne-spasms)

Uvavanyo lwegazi kunye nomchamo lunokubonisa amanqanaba aphezulu e-uric acid. I-biopsy yolusu inokubonisa ukwehla kwamanqanaba e-enzyme ye-HPRT1.

Akukho lunyango lukhoyo lwe-Lesch-Nyhan syndrome. Iyeza lokunyanga igawuthi lingawehlisa amanqanaba e-asidi yeuric. Nangona kunjalo, unyango aluziphuculi iziphumo zenkqubo ye-luvo (umzekelo, ukuba ne-reflexes kunye ne-spasms).

Ezinye iimpawu zinokukhululeka kula mayeza:

• ICarbidopa / levodopa
• Diazepam
• IPhenobarbital
• IHaloperidol

Ukuzenzakalisa kunokuncitshiswa kukususwa kwamazinyo okanye ngokusebenzisa isikhuseli somlomo esenziwe ngugqirha wamazinyo.

Unokumnceda umntu onale syndrome usebenzisa ukunciphisa uxinzelelo kunye neendlela zokuziphatha ezilungileyo.

Isiphumo sinokubi. Abantu abanesi sifo bahlala befuna uncedo lokuhamba nokuhlala. Uninzi ludinga isitulo esinamavili.

Okubi, ukukhubazeka okuqhubekayo kunokwenzeka.

Tsalela umnikezeli wakho ukuba iimpawu zesi sifo zivela emntwaneni wakho okanye ukuba kukho imbali yesifo seLesch-Nyhan kusapho lwakho.

Ukucebisa ngemfuza kwabo banokuba ngabazali abanembali yosapho yesifo seLesch-Nyhan kuyacetyiswa. Uvavanyo lunokwenziwa ukujonga ukuba ngaba umfazi ngumntu ophethe le syndrome.

IHarris JC. Ukuphazamiseka kwe-purine kunye ne-pyrimidine metabolism. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 108.

I-Katz TC, i-Finn CT, i-JM eqolileyo. Izigulana ezinee-syndromes zemfuza. Ku: Stern TA, Freudenreich O, Smith FA, Fricchione GL, Rosenbaum JF, ii-eds. Incwadi yesibhedlele iMassachusetts General Hospital yoNyango lweSibhedlele esiBanzi. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 35.