Isifo seLesch-Nyhan

I-Lesch-Nyhan syndrome yisifo esidluliselwa ngemindeni (esizuzwe njengefa). Kuthinta indlela umzimba owakha futhi wehlise ngayo imisoco. Ama-purines ayingxenye ejwayelekile yezicubu zomuntu ezisiza ukwenza uhlelo lofuzo lomzimba. Zitholakala nasekudleni okuningi okuhlukahlukene.

I-Lesch-Nyhan syndrome idluliswa njengesixhumanisi esixhunywe ku-X, noma isici esihlobene nocansi. Kwenzeka kakhulu kubafana. Abantu abanalesi sifo abalahlekile noma bantula kakhulu i-enzyme ebizwa nge-hypoxanthine guanine phosphoribosyltransferase (HPRT). Umzimba udinga le nto ukuze uphinde usebenzise ama-purine. Ngaphandle kwayo, amazinga aphezulu e-uric acid ayakha emzimbeni.

I-uric acid eningi kakhulu ingadala ukuvuvukala okufana ne-gout kwamanye amalunga. Kwezinye izimo, kuvela amatshe ezinso nesinye.

Abantu abaneLesch-Nyhan babambezele ukuthuthukiswa kwezimoto okulandelwa ukunyakaza okungajwayelekile nokukhula kwengqondo. Isici esigqamayo se-Lesch-Nyhan syndrome yisenzo sokuzilimaza, kufaka phakathi ukuhlafuna izingalo zomunwe nezindebe. Akukaziwa ukuthi lesi sifo sizibangela kanjani lezi zinkinga.

Kungaba nomlando womndeni walesi simo.

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba. Ukuhlolwa kungakhombisa:

• Izimo ezikhulayo
• Ubuningi (obunama-spasms)

Ukuhlolwa kwegazi nomchamo kungakhombisa amazinga aphezulu e-uric acid. I-biopsy yesikhumba ingakhombisa amazinga anciphile we-enzyme ye-HPRT1.

Akukho ukwelashwa okuqondile okukhona kwe-Lesch-Nyhan syndrome. Imithi yokwelapha i-gout ingehlisa amazinga e-uric acid. Kodwa-ke, ukwelashwa akuthuthukisi umphumela wesistimu yezinzwa (ngokwesibonelo, ukuba nengqondo eyeqile kanye nama-spasms).

Ezinye izimpawu zingakhululeka ngale mithi:

• ICarbidopa / levodopa
• I-Diazepam
• I-Phenobarbital
• I-Haloperidol

Ukuzilimaza kungancishiswa ngokususwa kwamazinyo noma ngokusebenzisa isivikelo somlomo esivikela udokotela wamazinyo.

Ungasiza umuntu onalesi sifo usebenzisa izindlela zokunciphisa ukucindezeleka nezindlela zokuziphatha ezinhle.

Umphumela kungenzeka ube mncane. Abantu abanalesi sifo ngokuvamile badinga usizo lokuhamba nokuhlala. Iningi lidinga isihlalo esinamasondo.

Ukukhubazeka okukhulu, okuqhubekayo kungenzeka.

Shayela umhlinzeki wakho uma izimpawu zalesi sifo zivela enganeni yakho noma uma kunomlando we-Lesch-Nyhan syndrome emndenini wakho.

Ukwelulekwa ngofuzo kwabangaba ngabazali abanomlando womndeni we-Lesch-Nyhan syndrome kuyanconywa. Ukuhlola kungenziwa ukubona ukuthi ngabe owesifazane unguthwali walesi sifo.

UHarris JC. Ukuphazamiseka kwe-purine ne-pyrimidine metabolism. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 108.

I-Katz TC, iFinn CT, iStoler JM. Iziguli ezine-syndromes zofuzo. Ku: Stern TA, Freudenreich O, Smith FA, Fricchione GL, Rosenbaum JF, abahleli. IMassachusetts General Hospital Handbook yeGeneral Hospital Psychiatry. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 35.