Lesch - Nyhan syndrome: whakaahua o tupu, nga take, tohu, maimoatanga

Lesch syndrome - pēnei Nyhan ki mate tuku e kua e pā ana ki disorders pūkoro tinana. faaite te mate ano i roto i te tuatahi o nga marama o te ora. Ko reira kino no te mea ehara i te mea ki te therapy motuhake. Treatment anake āwhina ki te ū te huru, engari e kore e tino whakaora te tamaiti, te whakatika i nga take pakiaka. He aha e nga āhuatanga o tenei mate? He aha te mea te tūponotanga o te syndrome taua?

whakamāramatanga

I roto i te disorders onge o te purine pākia te huna hoki rerekē Lesch - Nyhan. puta ake maha syndrome i roto i te mau tamaroa, rite hono ki X-pūira. Kei te whai pānga te reira ki te hē paru, i hua i te utu o mua kua pakaru, whakanuia ana tona rahinga. whakaaturia te haaputuputuraa o tenei taonga te faaiteraa neurological pātata me te pūkoro, me i nei e taea te whakapae mate. titau te whanonga ke o te tamaiti, he whakamātautau hauora, e ngā te kohikohi me te tātari o te whakamātautau ira noa.

etiology

He aha te mea te syndrome take Lesch - Nyhan? E hutia nga take o tenei mate i roto i ngā ira mate. Tenei te tikanga e te whanaketanga o te māuiuitanga o te aroaro o te ira ngoikore i roto i te whaea - koha sex-hono. E whakaahuatia taipitopito o te tukanga i raro. E kore e te aroaro o tenei ira arahi tonu ki te whanaketanga o te syndrome - te tūponotanga ko te 25%. I roto i te tikanga ki te aromatawai i te tūponotanga o te mate, e tūtohu mau ana i te reira i roto i tohutohu hauora, me te ira.

he mate iranga

Syndrome Lesch - Nyhan (aratau ngoikore o tupu, sex-hono) ko te mate nui riro. Kei te whai pānga te reira ki te lesion o te HPRT ira (hypoxanthine-guanine phosphoribosyltransferase), kei nei i runga i te X-pūira - i runga i tona ringa roa. I roto i nga wahine, i reira e rua pērā i ngā pūira, me whai tane kotahi, i te mea he aha, ko te atu noa i roto i nga tangata mate ira. Ko te take o te syndrome i roto i nga wahine he onge, a taea te pēnei tona ahua ki te X-inactivation.

āhuatanga matüora

Nā ki te whākōkī disorders whakakitea syndrome Lesch - Nyhan. Biochemistry ko reira hē o hypoxanthine-guanine. I raro i ngā āhuatanga noa, te vai tenei whākōkī i roto i ngā pūtau katoa, engari te nuinga o reira kitea i roto i te maha o neurons o te roro. arata'i te whakararuraru, ira ki tona ngaro, hua i roto i te hypoxanthine whakawhiti raruraru. hua tenei moni nui o mua kitea nei e assays i roto i te mimi me te toto. Ko te aha tūroro i tohu o te kauti.

Āhuatanga te wai cerebrospinal. faarahi te reira i te taumata o te hypoxanthine, e kore mua. Tenei ai abnormalities neurologic, me te waikawa uric roto i te arai toto-roro ki te kore e haere. E kore e tāuta te etiology o disorders whanonga tēnei wā. e kore e Scientists pāhono reira ki te taikaha o te hypoxanthine me mua. Kei te whakapono te reira e arata'i hyperuricemia ki te kore o te dopamine. hypersensitivity i hanga D1-receptors kei roto i neurons striatal. kia arahi tenei ki nui haere fakaaoao.

faaiteraa haumanu

Mai ngā ira mate e pā ana pehea faaite te syndrome ake Lesch - Nyhan. Tohu o te mate matua whakaata kino ki te pūnaha io. māharahara Tūroro faaiteraa haehae, i cramps hopu etahi rōpū uaua. giperkinezy hoki noa, whakakitea aitua, wahi rite ki te hua o te hua noa i roto i te reo uaua. Kei te ërä i muri tamariki ki tenei syndrome i roto i te whanaketanga ā-tinana, me te hinengaro: kua slurred ratou kupu, pea he tīmatanga e haere ana te mutunga o. Ko te pānga i runga i te mahi o te karere vagus arata'i ki nui haere pūpū purua: puku e ringiringi tupu, kahore tetahi take. I tua atu, i te pāpāngia auau me haurangi haurangi. e pā ana te mate i te disorders pūkoro, reira meinga nga tohu motuhake. Per ra, te tikanga, he nui nui o te mimi, hono nei te ki te māuiuitanga tamau, me te tākihi matewai. whiwhi waikawa Uric te i roto i te taringa, ārahi ki te hanganga o pera-ka karanga tophi. I roto i te mimi kitea tioata waikawa uric he he tae karaka. I tua atu, whai wāhi te tukanga hononga, te tikanga iti. whakawhanake rātou i mumura - rumati.

whanonga

E nga āhua me ngā ritenga o te mate Lesch - Nyhan? Syndrome tino huri te whanonga o te manawanui e tika ana ki te CNS. riro te tamaiti rawa te pehi, kei te rerekē haere tonu tona huru. Ngā wāhanga taa'eraa o te fakaaoao e kia tupu, kahore he take i tetahi wa. Ēnei tamariki i te haafifi i ki whaiaro-kino, e te tono wā ki te ngau me rapirapi. Kei te whakaaro te reira i te tohumate huru o te māuiuitanga. Ahakoa te pupuri tūtohutanga tonu ki te mamae e kore e mutu tūroro. kia karanga ratou i roto i te mamae, engari tonu ki te mahia whaiaro kino-.

tātaringa

hāngai ana (e te aroaro whakaahua o tūroro i roto i te tuhinga) kei runga i te whakamātautau haumanu, me te motuhake tikanga rangahau atu - te tātaritanga "Nyhan syndrome Lesch". Ētahi māuiuitanga te tauturu e toru tohumate matua. Kia whai whakaaro ki disorders uaua natula takiri, he hehema ki whaiaro kino-me polyuria. takaro te tūranga motuhake e whētuki ano e kia mōhio ngā mātua. I muri te tāutu tohu o te tamaiti ka tono tangata hoki mimi me te tātari toto. Biochemistry ka whakatau i te taumata o mua i roto i enei fluids koiora. Ko reira tika hoki ki te hanga whakamātautau ira, i whakapumautia te tātaritanga. tūtohu ana e ki te ultrasound tākihi kitea māuiuitanga i roto ia ratou. I muri i te haamauraa o te mate tangata e te tamaiti rēhita ki ha toketā neave me te rheumatologist.

maimoatanga

tikanga pharmacological me kore-pharmacological ki te āwhina te whakatika i te syndrome Lesch - Nyhan. hāngai maimoatanga i te ārai o pōauautanga me whakapai ake. Ki te whakaiti i te mōrea o te hanganga o te hēnga o ōna whatukuhu kia iti haere te taumata waikawa uric, e tae "Allopurinol". e tūtohu ana ki te whakamahi i "Diazepam" ki ata i te manawanui, me te whakakore i te nganatanga ki meinga kino ki ano. Ka taea hoki te farii i te tahi atu sedatives. Addition ki te hiahia ki te mau tonu te mana o te whanonga. A, no te taea pukuriri patua tautapa "risperidone he". I tua atu, kia faaore i te reira āhuatanga taumaha. Tenei ka āwhina i te manawanui ki te urutau ki tona taiao, me te tomo ki te whakapā tata ki ētahi atu iwi. Tautoko mō te mau utuafare Ko te take faufaa e ka āwhina i ki te whakatika i te whanonga. diapering tūtohutia karapu ngohengohe ki te tiaki i te kino-whaiaro ranei. i maha haere matou ki te tango o nga niho, i roto i te tikanga ki te ārai ngau. I te kau, te whanaketanga o te rongoa, pērā i niho, ka taea te whakamahi o paraharaha motuhake, e kua whakanohoia ki runga ki nga niho, kahore meinga hūhi ki te manawanui.

pōauautanga

Ka rite ki te nuinga o pathologies, i reira he pōauautanga me mate Lesch - Nyhan. Ko te syndrome kia arahi ki hopearaa e pā ana ki te haaputuputuraa o mua, me te hypoxanthine. Enei disorders whakapoto te ora, me te ārai i noa ki te urutau ki te hapori. I roto i disorders whakahuatia - rumati me nephrolithiasis.

e pā ana mumura Tahi te ki te whakatau o mua. tioata Kāhui kua reira pānga e totohu i runga i wheua ngohe kikokiko me tona taiao. Ko te tikanga pānga nga hononga o nga waewae, me ringa. I roto i te mara o te mumura puta tetahi raru me te whero. faarahi mamae syndrome ki kaupapa.

kia hua Nephrolithiasis (kohatu tākihi ranei) i roto i taua pōauautanga rite pyelonephritis. Ko te tukanga inflammatory whai wāhi te papatoiake tākihi. Ka taea te horahia mate ranei urinogennym hematogenous me i patu kiko, me te interstitium. A, no te haere i roto i te wā ma'i o te mumura nā tukanga tina heke sclerosis. arata'i whanaketanga mate ki te hanganga o nui iti hoki tākihi. Rawa kino ko te whakakapinga o ngā āhuatanga hanganga o te kiko tūhonohono te tākihi, te irreversibly takahia reira ona mahi - te tohatoha o matū tinana faufaa.

Ko nga āhuatanga o te māuiuitanga Lesch enei - Nyhan. Syndrome Ko tino mahu. Whakaora e hāngai ana ki te whakaiti tohu haumanu me te āhua stabilization. wāhi nui i roto i tenei takaro te taiao, me te ora tikanga manawanui.