ʻO Lesch-Nyhan maʻi

ʻO Lesch-Nyhan maʻi maʻi kahi maʻi i hoʻoili ʻia i waena o nā ʻohana (hoʻoilina). Hoʻopili ia pehea e kūkulu ai ke kino a wāwahi i nā purine. ʻO Purine kahi mahele maʻamau o ke kino o ke kanaka e kōkua i ka hana ʻana i ka blueprint genetic o ke kino. Loaʻa lākou i nā meaʻai like ʻole.

Ua hala ʻo Lesch-Nyhan Syndrome ma ke ʻano he pilina X, a i ʻole pili i ka moekolohe. Kū ka hapanui i nā keikikāne. ʻO ka poʻe me kēia maʻi ke nalo a nele nui paha i kahi enzyme i kapa ʻia hypoxanthine guanine phosphoribosyltransferase (HPRT). Pono ke kino i kēia mea e hoʻohana hou i nā purine. Me ka ʻole o ia, kūkulu nā pae kiʻekiʻe ʻino o nā uric acid i loko o ke kino.

Hiki i ka nui o ka uric acid ke hoʻoulu i ka gout-like me ka huʻihu ʻana i kekahi o nā hono. I kekahi mau hihia, hoʻomōhala ka hakuʻala a me nā pōhaku bladder.

Ua hoʻolohi nā poʻe me Lesch-Nyhan i ka hoʻomohala kaʻa i ukali ʻia e nā neʻe maʻamau a hoʻonui i nā reflexes. ʻO kahi hiʻohiʻona nui loa o ka maʻi ʻo Lesch-Nyhan kahi hana hoʻopōʻino ponoʻī, me ke kuʻi ʻana i nā manamana lima a me nā lehelehe. ʻAʻole maopopo i ke kumu o ka maʻi e hoʻokumu ai i kēia mau pilikia.

Aia paha he moʻolelo ʻohana o kēia ʻano.

E hana ka mea mālama ola i kahi hoʻokolohua kino. Hōʻike paha ka hōʻike:

• Hoʻonui i nā reflexes
• Spasticity (loaʻa nā spasms)

Hiki ke hōʻike i nā hoʻāʻo ʻana i ke koko a me ka mimi i nā pae waikawa uric kiʻekiʻe. Hōʻike kahi biopsy ʻili i nā pae hōʻemi o ka HPRT1 enzyme.

ʻAʻohe lapaʻau kūikawā no ka maʻi ʻo Lesch-Nyhan. Hiki i ka lāʻau lapaʻau no ka mālama ʻana i ka gout ke hoʻohaʻahaʻa i nā pae acid uric. Eia naʻe, ʻaʻole hoʻomaikaʻi ka hoʻomaʻamaʻa i ka hopena o ka ʻōnaehana hopohopo (e laʻa me ka hoʻonui ʻana i nā reflexes a me nā spasms).

Hoʻomaha ʻia kekahi mau ʻōuli me kēia mau lāʻau:

• Carbidopa / levodopa
• Diazepam
• Phenobarbital
• Haloperidol

Hiki ke hōʻemi ʻia ka hōʻino ponoʻī e ka lawe ʻia ʻana o nā niho a i ʻole ka hoʻohana ʻana i kahi pale kiaʻi waha pale i hoʻolālā ʻia e kahi kauka niho.

Hiki iā ʻoe ke kōkua i kahi kanaka me kēia maʻi maʻi e hoʻohana ana i ka hoʻohaʻahaʻa kaumaha a me nā ʻano hana maikaʻi.

Hune paha ka hopena. Pono ka poʻe me kēia maʻi i ke kōkua pinepine e hele wāwae a noho hoʻi. Pono ka hapa nui i kahi noho huila.

ʻO ke kīnā ʻole, holomua holomua paha.

Kāhea i kāu mea hāʻawi inā ʻike ʻia nā hōʻailona o kēia maʻi i kāu keiki a i ʻole inā aia kahi moʻolelo o ka maʻi ʻo Lesch-Nyhan i kou ʻohana.

Kūkā ʻia nā ʻōlelo aʻoaʻo genetic no nā mākua e hiki mai ana me ka moʻolelo ʻohana o Lesch-Nyhan maʻi. Hiki i ka hoʻāʻo ʻana ke ʻike inā he wahine hāpai i kēia maʻi maʻi.

ʻO Harris JC. Nā maʻi o ka purine a me ka pyrimidine metabolism. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 108.

Katz TC, Finn CT, Stoler JM. ʻO nā mea maʻi me nā syndrome. I: Stern TA, Freudenreich O, Smith FA, Fricchione GL, Rosenbaum JF, eds. ʻO ka puke lima nui o ka haukapila ʻo Massachusetts. ʻEpekema 7 Piladelapia, PA: Elsevier; 2018: chap 35.