Lesch - Nyhan maʻi pale: Hawaii photo o ka noho ana, na kumu, symptoms, lapaʻau

Lesch maʻi pale - Nyhan wahi i hereditary maʻi i i pili me ka metabolic kāna hana. Ka maʻi hoike mai ai ia ia iho i loko o ka mahina mua o ke ola. He mea no ka mea i ku ei ka maopopo Inc ole. Lapaau wale kōkua e stabilize i ke kanawai, akā,ʻaʻole loa hoola i ke keiki, kamaʻilio i ke kumu kumu. He aha nō nā 'ano o kēia maʻi? He aha ka ka likelihood o ia i ka maʻi pale?

ka wehewehena

Mawaena o ka mea pohihihi keia kāna hana o ka purine pūnao pee no'āno'ē Lesch - Nyhan. maʻi pale ia lŘlŘ oi pinepine i keiki, e like me ka ua hoʻopili i ka X-chromosome. Ua Ua pili me ka'ūhū deficiency, i kūpono i ka wehe ana o uricʻakika ua wāwahiʻia, kona mea maoli. Ke hoʻomāhuahua o keia waiwai ua hōʻike e pili a me ka metabolic neurological hoike ana, a ma i hiki ke kēia maʻi. Ke'ē hana o ka pēpē koi i ka 'inikua ninaninau, i ka loaʻa o ka' ohi 'a me Ka Ikepili o na aaiaoe ninaninau.

etiology

He aha ka ke kumu maʻi pale Lesch - Nyhan? Nā kumu o kēia maʻi i uhukiia ma aaiaoe kāna hana. Kēia 'o ia hoʻi i ka ulu ana o ka pathology o ke alo aku o ka recessive'ōewe i loko o ka makuwahine - ke keka-ua hoʻopili kina. i ho'ākāka 'ia ma lalo Details o ke kaʻina. Ke alo o keia'ōewe, aole ia e mau alakai i ke kūpono 'ana o ka maʻi pale - ka pahiki o 25%. I mea e Loiloi i ka pilikia o ka maʻi, ka mea, ua pono e hali ana mai 'inikua, a aaiaoe aʻoaʻo' ia.

he aaiaoe kāna hana

Maʻi pale Lesch - Nyhan (recessive pololei o ka hoʻoilina, ke keka-ua hoʻopili) mea he nui ili maʻi. Ua Ua pili me ka lesion o ka'ōewe HPRT (hypoxanthine-guanine phosphoribosyltransferase), i kahi ma luna o ka X-chromosome - ma kona lima lōʻihi. Ma nā wāhine, he mea mau i na chromosomes a me kane i kekahi, i mea no ke aha la aaiaoe kāna hana mea oi, he pono ole i loko o nā kānaka. Na hihia o ka maʻi pale i loko o nā wāhine mea pohihihi keia, a me kona helehelena hiki ke wahi i ka X-inactivation.

biochemical hiʻona

Manawa e'ūhū kāna hana hoike maʻi pale Lesch - Nyhan. Biochemistry ia mea deficiency o hypoxanthine-guanine. Ma lalo o maʻamau rula, keia'ūhū i koe i loko o nā mea a pau keena, akā, loa no ka mea, ua loaʻa i loko o ka helu ana o neurons o ka lolo. Aaiaoe kāna hana hiki aku ai i kona wa e kaawale aku, kūpono i ka meaʻehaʻeha kūkaʻi hypoxanthine. Kēia produces excessive dala o uricʻakika i ua 'akomi i ka assays ma ka mimi a me ke koko. A no ke aha la hoʻomanawanui iki mai i symptoms o gout.

Features he cerebrospinal loli. Ua kūpono o ka iliwai o ka hypoxanthine,ʻaʻole uricʻakika. Kēia ke kumu no neurologic abnormalities, a me uricʻakika ma ke koko-lolo ke'ākeʻakeʻa mai i ka hele mai. Ke etiology o ka 'ano' kāna hana i ole a ianoiyuaa a hoʻouka kekahi. ʻepekema mai i hui ia me ka oi o ka hypoxanthine a me uricʻakika. Ua Ua manaoio ia hyperuricemia hiki aku ai i ka nele o ka dopamine. I hana hypersensitivity D1-receptors ke aupuni 'o striatal neurons. Kēia e alakai i mahuahua aggression.

lapaʻau hoike ana

No aaiaoe kāna hana pili ana i ka maʻi pale hoike mai ai ia ia iho Lesch - Nyhan. Symptoms o ka maʻi kuhikuhi noonoo poino i ka'emi ko kahua. E hoomanawanui i hoohihiaia 'aoʻao o convulsions, oiai cramps Haiʻina mai kekahi Muscle pūʻulu. giperkinezy i ole, hoikeia mai twitching mau lala i ka hopena o ka noho'na makaainana i ulu mahuahua ma ka Muscle leo. Children me keia maʻi pale e lagging hope i loko o ke kino a me ka noʻonoʻo '? Acaeoey: lākou mau olelo ua slurred, o hiki mai i ka hopena o hoʻomaka me ka holoholo. Ka hopena ma luna o ka hana o ka vagus nā aʻalolo hele aku ai, a mahuahua nui gag reflex:'ōpū emptying hana me kekahi kumu. Eia hou, ka pinepine lōlō a me ka epileptic kāʻili 'ana. I ka maʻi ua pili me ka metabolic kāna hana, ma laila e kauoha ana i ka hana i ho'ākāka 'symptoms. No ka lā, IeAUPIIe, IAa IO, he nui ka nui o ka mimi, a ua pili i ka makewai ikaika a me kaʻaʻa puʻuwai pathology. Uricʻakika ua loaa i loko o nā earlobes, e alakai ana i ke kahua o ka ai-kapaia tophi. I ka mimi ia akulla uricʻakika nā pōaka me ka alani waihoʻoluʻu. Eia kekahi, ke kaʻina ohana ami, IeAUPIIe, IAa IO uuku. Ka mea, hoʻomōhala aat - arthritis.

hana

I ka lifestyles a me nāʻano o ka maʻi Lesch - Nyhan? Maʻi pale seriously hoʻololi i ka hana o ka hoʻomanawanui aie i ka CNS. Ke keiki i loa restless, i kona naʻau i loko ua mau hoʻololi. Pakahi aku la ia noteworthy Episode o ka aggression i i hana me ke kumu i kekahi manawa. Kēia mau keiki i ka welelau o ka pakiko-ino, i ua a ianoiyuaa a pili i naʻaki a me scratches. Ua Ua manaoia he ano symptom o ka pathology. O ka malama ana piha pā lonoaʻili i ka eha, aole ia i hooki nā mea maʻi. Ka mea, e hea mai i loko o ka eha, akā, e hoʻomau i ka hoopai pakiko-ia ia ka poino.

lapaʻau '

I kaʻike, "maʻi pale Lesch - Nyhan" (kiʻi o nā mea maʻi i hōʻike mai iā ia i loko o ka 'atikala) ua ka nānā' ana ma luna o lapaʻau keia hookolokolo ana a me ka hana hou noiʻi ki ina hana like. Paipai pathology kōkua ka papa kuhikuhiE symptom ekolu. E lohe i ka Muscle kāna hana convulsive ano, he ka welelau o ka pakiko-ino a me ka polyuria. A kūlana kūikawā Ua pâʻani 'o ia ma ka trauma iho i e Alert makua. Ma hope o nä ke keiki ka symptoms hoouna no ka mimi a me ke koko Ka Ikepili. Biochemistry e hoʻoholo i ka nui o uricʻakika i loko o kēia mau liluwelo fluids. Ua mea no hoi e pono ai e e aaiaoe ninaninau, a hookupaa iho la ia i kaʻike,. Ua pono ia i ka hakuʻala ultrasound e huai ae pathology i loko o ia mau mea. Ma hope o hōʻoiaʻiʻo nō o ka maʻi i ke keikiʻia kakau i ka neurologist, a me ka rheumatologist.

lapaʻau

Pharmacological a me ka 'ole-pharmacological ki ina hana like, e kōkua paʻipaʻi i ka maʻi pale Lesch - Nyhan. Lapaʻau ua pahuna ma Kāohiʻana o nā complications a me ka hou. E emi i ka pilikia o ke kahua o ka hakuʻala ole e emi iho uricʻakika pae, a hiki "Allopurinol". ? Aeiiaiaiaaia e hoʻohana "Diazepam" e e mālie i ke ahonui a me ka hoʻopau i ka hoao ana e i poino ia iho. Oe ke i loaa i na kiaha dala. Hou ana i ka pono, e malama i ke kāohi o ka hana. Ka wāʻano pākīkē ho'āhewa wale ke hāʻawi aku "Risperidone". A eia hoi, ka mea e hoʻopau stressful wahi, i hiki. Kēia, e kōkua i ka hoʻomanawanui i ke hakuloli i kona hoʻolilo 'ia a komo i loko o ke kaua'ō'ō ihe a me nā kanaka. Kākoʻo no kaʻohana mea he nui ololi mea e kōkua i ka hooponopono i ka hana. paipai diapering a pahee Loan e hoʻopale mai pakiko-ia ia ka poino. Mākou, ua pinepine io ai i ka wehe 'ana o na niho, ma ka mea e oleʻaki. Ma ka manawa, ka hooulu ana o ka oihana lapaau, e like me dentistry, e leie aku ka pono o kūikawā mau papa, a i kau ma luna o nā niho, me ka hoohele discomfort i ka hoʻomanawanui.

complications

Like loa pathologies, ma laila nō complications a me ka maʻi ahulau Lesch - Nyhan. Ka maʻi pale ke alakai i ka hopena pili me ka hoʻomāhuahua o uricʻakika a me ka hypoxanthine. Mau kāna hana hoʻopōkole 'ke ola a me ka pale aku maʻamau i hakuloli i ke kaiāulu. I waena o kāheaʻia kāna hana - arthritis a me ka nephrolithiasis.

Olelo aat ua pili me ka maluhia iho la o uricʻakika. Huhui waina a lākou nā pōaka ka mea, he mau waiwaiʻino wale i ma cartilage'aʻaʻa a me kona kaiapuni. I hookuu e loli ai na ami o ka wawae a me ka lima. Ma ke kahua o ka li nui ikea soreness a me ka redness. Pain maʻi pale maoli me ka neʻe.

Nephrolithiasis (hakuʻala pohaku paha) e 'ai pono i na complications me pyelonephritis. O hoʻoʻino kaʻina komo ai ka ʻaʻa puʻuwai pelvis. Maʻiʻaʻai hiki e palahalaha ae paha hematogenous urinogennym, a ma ka ma ko'aʻaʻa a me ka interstitium. I ka hele ana i loko o ka maʻi kahua o ka li nui triggered irreversible keʻano o ka hanaʻana sclerosis. maʻi ulu hiki aku ai i ke kahua o ka loaʻaʻa puʻuwai insufficiency. No ka mea o ka hope o mall oihana mua o ka connective'aʻaʻa ka hakuʻala, ka mea, ua irreversibly infringed kona papa - ka e auaaeaiea o ka hoʻokali kūpono 'kino' ona.

Mau mea i nā hiʻona o ka pathology Lesch - Nyhan. Maʻi pale Ua pau maʻi. Therapies pahuna ma hoemi lapaʻau symptoms a noaaeeecaoee moku'āina. Nui kūlana ma keia pâʻani 'o ia i ka hoʻomanawanui i hoʻolilo' ia a me ka poe ola ana.