Lesch-Nyhan chirwere

Lesch-Nyhan syndrome chirwere chinopfuudzwa kuburikidza nemhuri (nhaka). Iyo inokanganisa masikiro anoita muviri uye kuputsa purines. MaPurini inhengo yakajairika yezvinyama zvevanhu zvinobatsira kugadzira iro gavhuna remuviri. Izvo zvinowanikwawo muzvikafu zvakawanda zvakasiyana.

Lesch-Nyhan syndrome inopfuudzwa pasi seye X-yakabatana, kana hunhu hwakabatana pabonde. Zvinoitika kunyanya muvakomana. Vanhu vane chirwere ichi vanoshaya kana kushayikwa zvakanyanya enzyme inonzi hypoxanthine guanine phosphoribosyltransferase (HPRT). Muviri unoda chinhu ichi kuti chigadzirise purines. Pasina iyo, zvisina kujairika mazinga euric acid anovaka mumuviri.

Yakawandisa uric acid inogona kukonzera gout-kunge kuzvimba mune mamwe majoini. Mune zvimwe zviitiko, itsvo uye dundira mabwe anokura.

Vanhu vane Lesch-Nyhan vakanonoka kusimudzira mota zvichiteverwa nekufamba kusiri kweakaitika uye nekuwedzera kufunga. Chinhu chinokatyamadza cheLesch-Nyhan syndrome maitiro ekuzvikuvadza, kusanganisira kutsenga zvigunwe nemiromo. Hazvizivikanwe kuti chirwere ichi chinokonzera matambudziko aya sei.

Panogona kunge paine nhoroondo yemhuri yeichi chiitiko.

Anopa hutano anoita bvunzo dzepanyama. Bvunzo dzinogona kuratidza:

• Kuwedzera kwekufungisisa
• Kupenga (kuve neaspasms)

Ropa uye weti miedzo inogona kuratidza yakakwira uric acid mazinga. Bhiopsy yeganda inogona kuratidza kudzikira kwemazinga eiyo HPRT1 enzyme.

Hapana chaicho kurapwa kuripo kweLesch-Nyhan syndrome. Mushonga wekurapa gout unogona kudzikisa uric acid mazinga. Nekudaro, kurapwa hakuvandudzi mamiriro ehurongwa hwemitsipa (semuenzaniso, kuve nekuwedzera kwekufungisisa uye kupaza).

Zvimwe zviratidzo zvinogona kurerutswa nemishonga iyi:

• Carbidopa / levodopa
• Diazepam
• Phenobarbital
• Haloperidol

Kuzvikuvadza kunogona kuderedzwa nekubviswa kwemeno kana kushandisa chidziviriro chemuromo chinogadzirirwa nachiremba wemazino.

Unogona kubatsira munhu ane chirwere ichi uchishandisa kushushikana-kudzikisira uye nehunhu maitiro ehunhu.

Mhedzisiro yacho inogona kunge iri yehurombo. Vanhu vane chirwere ichi vanowanzoda rubatsiro kufamba uye kugara. Vazhinji vanoda wiricheya.

Yakakura, hurema hunofambira mberi hungangoita.

Fonera mupiki wako kana zviratidzo zvechirwere ichi zvikaonekwa mumwana wako kana kana paine nhoroondo yeLesch-Nyhan syndrome mumhuri yako.

Genetic kuraira kwevanotarisira vabereki vane nhoroondo yemhuri yeLesch-Nyhan syndrome inokurudzirwa. Kuedzwa kunogona kuitwa kuti uone kana mukadzi ari mutakuri weiyi syndrome.

Harris JC. Kukanganiswa kwepurine uye pyrimidine metabolism. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chitsiko 108.

Katz TC, Finn CT, Anononoka JM. Varwere vane magene syndromes. Mune: Stern TA, Freudenreich O, Smith FA, Fricchione GL, Rosenbaum JF, eds. Massachusetts General Hospital Bhuku reGeneral Hospital Psychiatry. 7th ed. Philadelphia, PA: Elsevier; 2018: chits. 35.