Matenda a Lesch-Nyhan

Matenda a Lesch-Nyhan ndi matenda omwe amabwera kudzera m'mabanja (obadwa nawo). Zimakhudza momwe thupi limapangira ndikuphwanya purine. Ma purine ndi gawo labwinobwino la mnofu wamunthu womwe umathandizira kupanga mapangidwe amtundu wa thupi. Amapezekanso muzakudya zosiyanasiyana.

Matenda a Lesch-Nyhan amapatsidwanso ngati cholumikizidwa ndi X. Zimachitika makamaka mwa anyamata. Anthu omwe ali ndi matendawa akusowa kapena akusowa kwambiri enzyme yotchedwa hypoxanthine guanine phosphoribosyltransferase (HPRT). Thupi limafunikira izi kuti zibwezeretsenso ma purine. Popanda izi, kuchuluka kwa uric acid kumakhazikika mthupi.

Kuchuluka kwa uric acid kumatha kuyambitsa kutupa ngati gout m'malo ena amaloba. Nthawi zina, pamakhala miyala ya impso ndi chikhodzodzo.

Anthu omwe ali ndi Lesch-Nyhan achedwetsa kukonza magalimoto ndikutsatira mayendedwe achilendo komanso kuwonjezeka kwamaganizidwe. Chofunika kwambiri pa matenda a Lesch-Nyhan ndi khalidwe lodziwononga, kuphatikizapo kutafuna zala ndi milomo. Sizikudziwika momwe matendawa amayambitsira mavutowa.

Pakhoza kukhala mbiriyakale yabanja yazimenezi.

Wothandizira zaumoyo adzayesa. Mayeso atha kuwonetsa:

• Kuchuluka kwa malingaliro
• Kutha (kukhala ndi ma spasms)

Mayeso amwazi ndi mkodzo atha kuwonetsa kuchuluka kwa uric acid. Kukhazikika kwa khungu kumatha kuwonetsa kuchepa kwa michere ya HPRT1.

Palibe mankhwala enieni a matenda a Lesch-Nyhan. Mankhwala ochizira gout amatha kutsitsa uric acid. Komabe, chithandizo sichimasintha zotsatira zamanjenje (mwachitsanzo, kukhala ndi malingaliro okomoka ndi kupuma).

Zizindikiro zina zitha kuchepetsedwa ndi mankhwalawa:

• Carbidopa / levodopa
• Diazepam
• Phenobarbital
• Haloperidol

Kudzivulaza kumatha kuchepetsedwa ndikuchotsa mano kapena kugwiritsa ntchito zoteteza pakamwa zopangidwa ndi dokotala wa mano.

Mutha kuthandiza munthu amene ali ndi vutoli pogwiritsa ntchito njira zochepetsera kupsinjika ndi machitidwe abwino.

Zotsatira zake mwina ndizosauka. Anthu omwe ali ndi matendawa nthawi zambiri amafunika kuthandizidwa kuyenda ndikukhala. Ambiri amafunikira chikuku.

Kulema kwakukulu, kopita patsogolo ndikotheka.

Itanani omwe akukuthandizani ngati zizindikiro za matendawa zikuwonekera mwa mwana wanu kapena ngati muli ndi mbiri ya matenda a Lesch-Nyhan m'banja lanu.

Upangiri wabwinobwino kwa omwe akuyembekezera kukhala makolo omwe ali ndi mbiri yabanja ya matenda a Lesch-Nyhan amalimbikitsidwa. Kuyesedwa kumatha kuchitidwa kuti muwone ngati mayi ali wonyamula matendawa.

Wachinyamata JC. Kusokonezeka kwa purine ndi pyrimidine metabolism. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 108.

Katz TC, Finn CT, Wozizira JM. Odwala omwe ali ndi majini syndromes. Mu: Stern TA, Freudenreich O, Smith FA, Fricchione GL, Rosenbaum JF, olemba. Buku la Massachusetts General Hospital la General Hospital Psychiatry. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2018: mutu 35.