Lesch - Nyhan syndrome: foto nke nketa, ndị na-akpata, ihe mgbaàmà, ọgwụgwọ

Lesch syndrome - Nyhan ekewet butere n'aka ọrịa na na-metụtara metabolic ọrịa. The ọrịa ayarade onwe ke mbụ ọnwa nke ndụ. Ọ dị ize ndụ n'ihi na ọ na-adịghị emegide a kpọmkwem ọgwụ. Ọgwụgwọ naanị na-enyere aka-akawanye ọnọdụ, ma ọ bụghị kpamkpam agwọ nwa, lebara na-akpata. Gịnị bụ ndị e ji mara ọrịa a? Gịnị bụ likelihood nke ndị dị otú a syndrome?

definition

N'etiti obere ọrịa nke purine metabolism secrete ndiiche Lesch - Nyhan. syndrome emee ọzọ mgbe na ụmụ nwoke, dị ka jikọrọ X-chromosome. Ọ jikọtara ihe enzyme erughi, nke rụpụtara na mgbanwe nke uric acid na-agbajikwa, ya buru ibu enwekwu. The ìgwè a umi na-egosi n'akụkụ na metabolic akwara ozi ngosipụta na nke nwere ike-enyo enyo na-arịa ọrịa. The iju omume nke nwa na-achọ a ọgwụ nnyocha, nke na-agụnye nzukọ na analysis nke nkịtị mkpụrụ ndụ ihe nketa nyochaa.

etiology

Gịnị bụ ihe mere syndrome Lesch - Nyhan? Na-akpata ọrịa a na-esite na mkpụrụ ndụ ihe nketa ọrịa. Nke a pụtara na mmepe nke daa ọrịa nke ọnụnọ nke a ebute na nne - mmekọahụ-jikọrọ nkwarụ. Nkọwa nke usoro na-kọwara n'okpuru ebe a. Ọnụnọ nke a site n'usoro ọ bụghị mgbe nile na-eduga mmepe nke syndrome - ihe gbasara nke puru bụ 25%. Iji na-amata ihe ize ndụ nke ọrịa, ọ na-atụ aro ndị na-eme ọgwụ na mkpụrụ ndụ ihe nketa ndụmọdụ.

a mkpụrụ ndụ ihe nketa-aghasa

Ọrịa Lesch - Nyhan (recessive mode nke nketa, mmekọahụ na-jikọrọ) bụ a oké ketara ọrịa. Ọ jikọtara a lesion nke site n'usoro HPRT (hypoxanthine-Gwanine phosphoribosyltransferase), bụ nke dị na X-chromosome - ogologo ya na ogwe aka. Na ndị inyom, e nwere ihe abụọ dị otú ahụ chromosomes na ụmụ nwoke nwere otu, nke mere na mkpụrụ ndụ ihe nketa aghara bụ ihe nkịtị na mmadụ. The ikpe nke syndrome inyom bụ obere, na ọdịdị ya nwere ike ekewet X-inactivation.

Biochemical atụmatụ

N'ihi enzyme ọrịa gosipụtara syndrome Lesch - Nyhan. N'ihi mmiri ọgwụ ọ bụ erughi nke hypoxanthine-Gwanine. N'okpuru nkịtị ọnọdụ, a enzyme dị, mkpụrụ ndụ nile, ma ọtụtụ n'ime a hụrụ ya na ọnụ ọgụgụ nke akwara ozi nke ụbụrụ. Genetic aghara na-eduga ná ya na-anọghị, dapụtara na-esogbu mgbanwe hypoxanthine. Nke a na-arụpụta oké ichekwa uric acid nke achọpụtara site assays na mmamịrị na ọbara. Ọ bụ ya mere ọrịa inwe mgbaàmà nke gout.

Akụkụ a cerebrospinal ọmụmụ. Ọ enwekwu larịị nke hypoxanthine, bụghị uric acid. Nke a na-akpata neurologic abnormalities, na uric acid site ọbara-ụbụrụ mgbochi ruo bụghị. The etiology nke akparamàgwà ọrịa na-adịghị ugbu a arụnyere. Ọkà mmụta sayensị adịghị akpakọrịta ya ngafe nke hypoxanthine na uric acid. Ọ na-kweere na hyperuricemia eduga a enweghị dopamine. Kpụrụ hypersensitivity D1-anabata dị na striatal akwara ozi. Nke a pụrụ iduga ụba ịchọ okwu.

adakarị ngosipụta

Ebe ọ bụ na mkpụrụ ndụ ihe nketa ọrịa metụtara otú syndrome-egosipụta onwe ya Lesch - Nyhan. Mgbaàmà nke ọrịa bụ isi na-egosipụta mmebi nke ụjọ usoro. Ọrịa nchegbu okwu ụfụ, mgbe cramps jidere ụfọdụ muscle iche iche. giperkinezy nwekwara nkịtị, gosipụtara twitching aka na ụkwụ ka a n'ihi nke n'amaghi-abawanye na Akwara ụda. Children na a syndrome na-anaghị agasi na anụ ahụ na nke uche mmepe: okwu ọnụ ha na-slurred, ikekwe a mbubreyo mmalite-eje ije. The mmetụta na ọrụ nke vagus akwara na-eduga ná ụba gag mpiaji: afo nsị-eme enweghị ihe ọ bụla mere. Ke adianade do, ugboro ugboro mkpọnwụ na akwụkwụ ọdịdọ. The ọrịa a na-ejikọta ya na metabolic ọrịa, si otú na-eme kpọmkwem ihe mgbaàmà. Kwa ụbọchị, na-emekarị, a nnukwu ego nke mmamịrị, nke e jikọtara ya na a akpịrị ịkpọ nkụ mgbe nile na gbasara akụrụ daa ọrịa. Uric acid a na-akwakọba na earlobes, na-eduga guzobe-akpọ tophi. Na mmamịrị ahụrụ uric acid kristal enwe oroma agba. Ọzọkwa, usoro aka nkwonkwo, na-emekarị obere. Ha na mbufụt - ogbu na nkwonkwo.

omume

Ò lifestyles na àgwà nke ọrịa Lesch - Nyhan? Ọrịa kpọrọ ịgbanwe omume nke onye ọrịa n'ihi na CNS. The nwa-aghọ nnọọ-erughị ala, ya na ọnọdụ a na-agbanwe mgbe nile. Ịrịba ama karịsịa ji nke mbuso agha ahụ nwere ike ime enweghị na-akpata n'oge ọ bụla. Ụmụaka ndị a nwere ọchịchọ onwe onye na-emerụ ahụ, nke na ugbu a na-etinyere na-ata aru ma scratches. Ọ na-atụle a ji mara mgbaàmà nke daa ọrịa. Ọbụna ịnọgide full uche mgbu na-adịghị akwụsị ọrịa. Ha wee tie mkpu na ihe mgbu, ma nọgide na-akpatara onwe-emejọ.

nchọpụta nsogbu

The nchoputa "syndrome Lesch - Nyhan" (photos nke ọrịa na-adade ke ibuotikọ) dabeere na-adakarị nnyocha na pụrụ iche ndị ọzọ nnyocha ụzọ. Na-atụ aro daa ọrịa enyemaka atọ isi mgbaàmà. Lezienụ anya ka muscle ọrịa convulsive uwa, a ọchịchọ onwe-ojoo na polyuria. A ọrụ pụrụ iche na-egwuri site trauma n'onwe ya na-ga-eme ka nne na nna. Mgbe a mara nwa ahụ mgbaàmà we mmamịrị na ọbara analysis. N'ihi mmiri ọgwụ ga-ekpebi na ọkwa nke uric acid na ndị a ndu oke mmiri. Ọ dịkwa mkpa ime ka mkpụrụ ndụ ihe nketa nnyocha, nke gosikwara na nchoputa. Ọ na-atụ aro na a akụrụ ultrasound ịchọpụta daa ọrịa na ha. Mgbe nkwenye nke ọrịa na nwa ego n'anya aha ka a ọkà mmụta ọrịa akwara a rheumatologist.

ọgwụgwọ

Pharmacological na-abụghị pharmacological ụzọ aka dozie syndrome Lesch - Nyhan. Ọgwụgwọ bụ iji na mgbochi nke nsogbu na mma. Iji belata ihe ize ndụ nke guzobere akụrụ odida ga ibelata uric acid larịị, nke iru "Allopurinol". Ọ na-atụ aro iji "Diazepam" iji mee ka obi onye ọrịa na kpochapụ mgbalị ime ka emebi onwe ya. I nwekwara ike inweta ndị ọzọ sedatives. Adianade mkpa ịnọgide na-enwe akara nke omume. Mgbe ike ike ọgụ nwere ike ekenye "Risperidone". Ọzọkwa, ọ ga-ewepụ na-akpata nchekasị. Nke a ga-enyere onye ọrịa imeghari ka ya na gburugburu ebe obibi na-abanye n'ime nso na kọntaktị na ndị ọzọ. Nkwado maka ezinụlọ bụ ihe dị oké mkpa nke ga-enyere iji dozie omume. na-atụ aro diapering ma ọ bụ adụ uwe iji chebe site na onwe-emejọ. Anyị na-ama mgbe malitere mwepụ nke ezé, na iji gbochie ata aru. N'oge, mmepe nke nkà mmụta ọgwụ, dị ka dentistry, enye ohere iji ihe pụrụ iche efere, nke na-enịm na ezé, enweghị na-eme erughị ala na-enwe ndidi.

nsogbu

Dị ka ọtụtụ pathologies, e nwere nsogbu na ọrịa Lesch - Nyhan. The syndrome pụrụ iduga pụta metụtara na ìgwè uric acid na hypoxanthine. Ndị a na-anaghị ekwe ebelata ndụ gbochie nkịtị imeghari ka ọha mmadụ. N'etiti owụt ọrịa - ogbu na nkwonkwo na nephrolithiasis.

Joint mbufụt jikọtara edozi nke uric acid. Ụyọkọ kristal ya nwere emebiri mmetụta na cartilage anụ ahụ na ya gburugburu ebe obibi. Na-emekarị na-emetụta nkwonkwo nke ụkwụ na aka. Na ubi nke mbufụt apụta soreness na nācha ọbara-ọbara. Pain syndrome enwekwu na ije.

Nephrolithiasis (akụrụ nkume ma ọ bụ) nwere ike ime ndị dị otú ahụ nsogbu dị ka pyelonephritis. The mkpali usoro-agụnye gbasara akụrụ pelvis. Ofufe Ọrịa ike-agbasa ma ọ bụ hematogenous urinogennym na site egbu anụ ahụ na interstitium. Mgbe na-aga na-adịghị ala ala na ogbo nke mbufụt triggered irreversible Filiks sclerosis. ọrịa mmepe-eduga ná e guzobere oké gbasara akụrụ insufficiency. Karịsịa dị ize ndụ bụ nnọchi nke bughi ihe nke connective anụ ahụ na akụrụ, ọ na-irreversibly infringed ya ọrụ - na oke nke na-enweghị isi ahu bekee.

Ndị a bụ ndị na atụmatụ nke daa ọrịa Lesch - Nyhan. Ọrịa bụ kpam kpam na-enweghị ngwọta. Ọgwụgwọ iji na mbenata adakarị mgbaàmà na stabilization ala. Ọrụ dị mkpa a na-egwuri ọrịa na gburugburu ebe obibi na ọnọdụ ibi ndụ.