Lesch - Nyhan chirwere: Photo yenhaka, zvinokonzera, zviratidzo, kurapwa

Lesch chirwere - Nyhan anonzi nhaka nezvirwere dzinoitwa metabolic zvirwere. Hosha kunooneka pacharo mumwedzi zvoupenyu rokutanga. Hazvina ngozi nokuti haisi pamusoro imwe kurapa. Treatment chete kunobatsira kudzikamisa mamiriro asi kwete chose kuporesa mwana, kugadzirisa zvinokonzera. Ndezvipi zvainyanya chirwere ichi? Chii mukana wokuti munhu urwere kwakadaro?

tsananguro

Pakati zvisingawanzoitiki kusagadzikana purine muviri secrete kanganisika Lesch - Nyhan. chirwere kunoitika kakawanda nevakomana, sezvo chokuita X-chromosome. Rinobatanidzwa ne imwe enzayemu kushaikwa, izvo kwakaguma kupanana uric asidhi yaputswa, ayo uwandu inowedzera. Kuunganidza fuma iyi kunoratidzwa pedyo uye metabolic chetsinga kuratidzwa uye anogona vanofungidzirwa chirwere. Vatorwa unhu mwana kunoda kurapwa kuongororwa, zvinosanganisira kuungana uye kuongorora zvakafanana magene bvunzo.

etiology

Ndechipi chikonzero chirwere Lesch - Nyhan? The zvinokonzera chirwere ichi dzomuShoko nemagene zvirwere. Izvi zvinoreva kuti kukura zvokurwara kuvapo imwe recessive Gene ari mai - kuremara pabonde-zvakabatana. Details acho zvinorondedzerwa pazasi. Kuvapo Gene ichi hakuiti kutungamirira kukura chirwere - mukana ndiyo 25%. Kuti kuongorora ngozi chirwere, Zvinokurudzirwa kuita zvokurapa uye Genetic Counseling.

chirwere chokugara nhaka

Syndrome Lesch - Nyhan (recessive kwadzinoita nhaka, pabonde-chokuita) ndiyo wakaomarara chirwere nhaka. Rinobatanidzwa ane lesion iri Gene HPRT (hypoxanthine-guanine phosphoribosyltransferase), riri pamusoro X-chromosome - yacho refu ruoko. Vakadzi, pane mbiri okutodza vakadaro uye varume vane rimwe, iro ndokusaka majini chirwere zvikuru nevakawanda nevanhu. The nyaya yacho chirwere vakadzi kashoma, uye ayo chitarisiko kunogona kunzi X-inactivation.

nemakemikari zvinhu

Nokuda enzayemu zvinetso akaratidza chirwere Lesch - Nyhan. Nemakemikari omuviri zviri kushayikwa hypoxanthine-guanine. Under kwomuzvarirwo ezvinhu, enzayemu ichi chiripo mumasero zvose, asi vakawanda inowanikwa nhamba Tutsinga tunofambisa mashoko utwu wouropi. Genetic rebipolar kunotungamirira asipo, zvichiguma vakavhiringidzika Exchange hypoxanthine. Izvi unobereka yakawandisa uric asidhi iro dzakaonekwa kubudikidza assays mu weti uye ropa. Ndokusaka varwere vane zviratidzo gout.

Ine cerebrospinal mvura. It anowedzera padanho hypoxanthine, kwete uric acid. Izvi zvinokonzera neurologic abnormalities, uye uric asidhi kubudikidza neropa-uropi chipingamupinyi kupfuura kwete. The etiology kuti maitiro zvirwere vasiri parizvino iiswe. Masayendisiti havadyidzani izvozvo ane nekumwisa hypoxanthine uye uric acid. Zvinofungidzirwa kuti hyperuricemia kunotungamirira kusava dopamine. Kuvakwa hypersensitivity D1-receptors iri striatal Tutsinga tunofambisa mashoko utwu. Izvi zvingaita kuti vawedzere yaiparadza.

zvekuchipatara kuratidzwa

Sezvo masero zvirwere chokuita sei chirwere pachena pacharo Lesch - Nyhan. Zviratidzo chirwere zvikurukuru kuratidza kukuvara tsinga. Varwere kunetseka kugwinha, apo chinyamunhari chinorwadza dzinovabata mamwe mapoka tsandanyama. giperkinezy Zvinowanzoitikawo, richiratidzwa twitching mapazi somugumisiro vaingoerekana kuwedzera tsandanyama matauriro. Vana vane chirwere ichi vari lagging mumashure mumuviri nomupfungwa kukura: Kutaura ravo kunokanganisika, zvichida kunonoka kutanga kufamba. The nezvainoita mashandiro ari vagus etsinga kunotungamirira vawedzere gag dzepanguva: dumbu Kuburitswa mu chinoitika pasina chikonzero. Uyewo, kakawanda akaoma rutivi rwomuviri uye nevaiva netsviyo pfari. The chirwere Rinobatanidzwa ne metabolic zvinetso, nokudaro achiita chaizvo zviratidzo. Per zuva, kazhinji, yakawanda weti, iro kwakabatana nyota kugara uye renal zvokurwara. Uric asidhi iri vaunganidza munyika nzeve dzavakadzi ndidzo dzaingoboorwa, zvichiita kuti paumbwe ainzi tophi. In weti padzakacherechedza uric asidhi crystals yakaruma orenji ruvara. Uyezve, muitiro vanobatanidzwa mapfundo, kazhinji duku. Vanokurukura kuzvimba - chearthritis.

maitiro

Ko mararamiro uye tsika chirwere Lesch - Nyhan? Syndrome zvakakomba maitiro murwere nokuda CNS. Mwana anova kudzikama chaizvo, manzwiro ake ari dzichichinja. Zvikurukuru Zvikamu chinokosha yaiparadza kuti kuitika pasina chikonzero chero nguva. vana ava vane katsika nokuzviremekedza kukuvadza, kuti pari kureva ikaruma uye anokwenya. Zvinonzi sechinhu maitiro chiratidzo pakati zvokurwara. Kunyange kuramba zvizere aikanganiswa marwadzo haagumiri varwere. Vanogona muchachema nokurwadziwa, asi ramba konzera kuzvipira kukuvadza.

Diagnostics

The chirwere "chirwere Lesch - Nyhan" (mapikicha varwere dzinoturwa munyaya) hunobva kurapwa kuongororwa uye chinokosha zvokuwedzera nzira. Pfungwa zvokurwara rubatsiro zvikuru zvitatu chiratidzo. Nyatsoteerera tsandanyama zvinetso convulsive hunhu, tsika nokuzviremekedza kukuvadza uye polyuria. A rinokosha iri reDare kunotevera pachayo inofanira kuona vabereki. Ataura kuti mwana wacho zviratidzo akatuma weti uye ropa kuongorora. Nemakemikari omuviri achasarudza pachiyero uric asidhi mu chaivo zvinwiwa izvi. Zvinokoshawo kuti majini kuongororwa, izvo akasimbisa chirwere. It akakurudzira kuti itsvo Ultrasound kuziva zvokurwara mavari. Pashure nokusimbisa chirwere mwana anobvamburwa vakanyorwa kuna chiremba wetsinga uye rheumatologist.

mabatiro

Pharmacological uye non-pharmacological nzira kubatsira kugadzirisa chirwere Lesch - Nyhan. Treatment nechinangwa kudzivirira yematambudziko uye kuvandudzika. Kuderedza ngozi paumbwe itsvo kukundikana kudukupiswa uric iine acid pamwero, izvo tisvike "Allopurinol". Zvinokurudzirwa kushandisa "Diazepam" kudzikamisa murwere kubvisa kuedza kukonzera kukuvara pacharo uye. Unogonawo kugamuchira mamwe sedatives. Kuwedzera kudiwa kuramba kudzora maitiro. Kana hasha kurwiswa vanogona basa "Risperidone". Uyezve, tinofanira kubvisa anoshungurudza ezvinhu. Izvi zvichabatsira murwere kuchinja yayo zvakatipoteredza uye upinde pedyo kuonana nevamwe vanhu. Support mhuri kunokosha chinhu chichabatsira kururamisa maitiro. varumbidzwa diapering kana akapfava magiravhusi kuchengetedza kusazvidzora-kukuvadza. Takanga vachiwanzoshandisa kubviswa mazino, kuitira kudzivirira ikaruma. Panguva iyoyo, kukura zvokurapa, akadai dentistry, rinobvumira kushandiswa anokosha mahwendefa, anoiswa pamusoro mazino, pasina anokonzera kusagadzikana kumurwere.

yematambudziko

Kufanana pathologies vakawanda, pane matambudziko uye chirwere Lesch - Nyhan. The chirwere kungaita kuti nemigumisiro chokuita kuunganidza uric asidhi uye hypoxanthine. Zvirwere izvi kudimbudzira upenyu uye kudzivirira Muzvarirwo kujairana vanhu. Pakati akaratidza zvinetso - chearthritis uye nephrolithiasis.

Joint kuzvimba Rinobatanidzwa Vakazopinda kuti uric acid. Sumbu crystals ane kukuvadza pamusoro shwashwa rinenge wayo zvakavapoteredza. Kazhinji kunokanganisa Hudyu tsoka uye maoko. In munda kuzvimba kuoneka soreness uye akatsvuka. Marwadzo chirwere kunowedzera kufamba.

Nephrolithiasis (itsvo matombo kana) angaguma yematambudziko akadai pyelonephritis. Kushoma hunosanganisira renal chiuno. Chirwere chinogona kupararira kana hematogenous urinogennym uye nokuuraya zvinyama uye interstitium. Paanoenda chirwere padariro kuzvimba akaparirwa kusingarapiki maitiro kuoma dzimwe nhengo dzomuviri. chirwere kukura kunoita kuti paumbwe zvikuru renal insufficiency. Kunyanya ngozi ndiyo yaitsiva STRUCTURAL zvenyaya connective zvinyama yacho itsvo, zviri irreversibly kuvhiringidzwa kwayo basa - asi hurumende ichiisa zvisingakoshi muviri zvinhu.

Ndivo zvinhu zvokurwara Lesch - Nyhan. Syndrome chose chisingarapiki. Therapies zvainanga yokuderedza zvekuchipatara zviratidzo uye Kudzikamiswa mamiriro. Rinokosha ichi airidza murwere zvakatipoteredza uye magariro.