Nahea te mate Von Hippel-Lindau?

Te mate, ka e kia kōrero i muri i roto i te tuhinga, te tikanga pēnei ki te rōpū o ngā ira mate matatini. Ko tōna āhuatanga matua ko te hanganga o te pukupuku maha i roto i te tinana ahu i te kopa o ngā whēkau. He aha te momo o te tinana ka patua uaua, tei reira, pera whakakitea syndrome von Hippel-Lindau.

Heoi, ko te take e mohiotia e pā waru tūroro, ahu i te whānau taua rite anake te tohu ko mate tākihi polycystic. Kua te tātaritanga i roto i tenei take, kua whakaturia te whakamahi i te tāutu o te koha ira (irakētanga).

e pā ana mate von Hippel-Lindau te ki te mate onge, me te auau o tona tupu - kotahi take ia 36,000 whakatupuranga.

Ko te tikanga o te whanaketanga mate

Ko te pūtake mate von Hippel Lindau he tuku āhua mate te whakatakiruatanga o āhuatanga e tini nui o kakahu capillary me te ahua rite ki te hua he maha nui o pukupuku neoplastic.

Kei te tuku te mate ki te whakatupuranga i muri i roto i te tikanga tino autosomal, arā i roto i te aroaro o te ira whakawaehere te māuiuitanga, tetahi o nga matua, te tūponotanga o te uri atu tahumaero ko 50%.

Ko te koha (irakētanga) hua i roto i te pehanga o te ira, i te mea he suppressor o tupu puku.

Faaiteraa - tukanga mate pukupuku

Ko te mau faaiteraa matua o von Hippel Lindau syndrome - pukupuku rapae o, roro tuarongo, ua, etine, whekau. Rārangi o neoplasms taea:

• Hemangioblastoma - whai localization i roto i te roro tuarongo me te etine; i takea mai i te kiko io. CNS neoplasms i te auau o te tupu o te mate i roto i te tūroro ki te von Hippel-Lindau i te iti rawa 60%. Ko te tau toharite o te tūroro e kua kitea tenei ahua o pokapū pukupuku pūnaha io, 42 tau.
• Angioma - he neoplasm o take iaia, me localization i roto i te ua.
• Cysts. Tenei neoplasm he i roto i te kōhao ki tonu i te wai. Ka taea te hanga e taua āhuatanga i roto i te ate, whatukuhu, raho me te taiaki. Tüturu, kua kitea tākihi me te pancreatic cysts i 33-54% o te wā.
• Pheochromocytoma - puku ahu i te pūtau medulla adrenal. Pā - e pā ana ki 7% o te tūroro. Ko te tau toharite o te tūroro ki te pheochromocytoma - e pā ana ki 25 tau.

• mate pukupuku Cell. I roto i ngā, i te tau toharite o ngā take ki tenei puku - 43 tau.
• I roto i nga tangata ki te mate ka taea e Von Hippel-Lindau whakawhanake neoplasms āhua mārire i roto i te i romia, (hei tauira, cystadenoma papillary).
• Kua kitea Women puku lesion o tuhonohono uterine.

Ko te paearu e i te tātaritanga he

Ka taea te tukua te tātaritanga o "mate von Hippel-Lindau" i roto i te take o te rapunga o te iti rawa tetahi o te aroaro I roto i te rārangi e whai ake nei o tohu. Ko te mea e ahei ki te whai koe i te hītori o te iti rawa tetahi o nga melo o te utuafare o te hemangioblastoma o te manawanui pokapū io, hemangioblastoma tuaroa, tākihi ngā whēwhē adenocarcinoma ranei:

• hemangioblastoma he rite te pai rite i roto i te tahi atu wahi o te pūnaha io pokapū localization i te kiko cerebellar;
• hemangioblastoma o te ua;
• hemangioblastoma ki localization i roto i te hinu wheua wheua;
• hemangioblastoma i runga i te etine;
• whēwhē kino kiko tākihi;
• adenocarcinoma tākihi;
• cysts pancreatic;
• tsistadenokartsinoma;
• pheochromocytoma;
• adenoma epididymal.

Me kï reira e te tikanga hauora e whai wāhi i roto i te raruraru o te syndrome von Hippel-Lindau nei te mau melo - Neurology, Ophthalmology, mimi, rongoā ā-.

CNS hemangioblastoma

Ko te tohu tino pinepine korerotia syndrome von Hippel-Lindau hemangioblastoma ko te whanaketanga o te roro tuarongo, ua, etine ranei. He i runga i te puku roro tuarongo kua te tohu e whai ake nei:

• Pāhoahoa Expander āhua.
• Whakapairuaki, ruaki.
• Te papû ore i roto i te haere, e tika ana ki te ruruku waimaero.
• Whanoke.
• Waimaero o te mahara (āhuatanga o te wāhanga i muri mai o te mate).

A, no te hemangioblastoma localization i ua, matua tohu haumanu ko te hekenga i roto i te tūtohutanga, paresis me te pāpāngia, disorders micturition me te tukanga defecation. tuhia mamae syndrome te wā anake.

Tenei ahua o te puku no ki te ahu whakamua āta. He kōrero tino mo te tātaritanga me te mana tikanga o te tirohanga mohio te, Imaging Resonance autō (MRI), fakafehoanaki tauira wahi whakarei.

Ko te ara whai hua anake ki te hamani i te roro tuarongo hemangioblastoma tenei ra, ko te tango hāparapara. Ko te whakamahi o te radiation me tikanga hauora o ngā hua pai fakalotoa e kore e whakaaturia.

I muri i hemangioblastoma tango microsurgical, rite ki te tikanga, e kore e auau i te reira, engari kia puta i roto i te tahi atu pukupuku. I roto i te maimoatanga hāparapara o te puku he tika ki te tango i ki pūkete ona plurality, i te mea āhuatanga o te mate Von Hippel-Lindau.

angiomatosis tuaroa

Hoki localization ophthalmic o te āhuatanga tukanga pathological ko āhuatanga topu-:

• wātea o angioma;
• vasodilation i roto i te fundus;
• te aroaro o te exudation subretinal (whakaeminga o te wai - mumura o te hua - i raro i te taupoki io), e taea meinga te whanaketanga o te ropu tuaroa exudative i roto i te wā arā atu anō o te mate.

Hoki nga wāhanga tuatahi o te mate te nuinga iti haere te ähua i roto i te fundus, nui haere tortuosity o oko toto. A, no te aki ki runga ki te 'Afio, me kua tohua otu'itu'iraa o nga pera, me uaua.

I roto i te wāhanga i muri mai o te vasodilatation me te ahunga whakamua tortuosity iaia, te hanganga o aneurysms me angiomas, he titiro glomeruli a tawhio ahurei - ko te tohu motuhake o te mate Von Hippel-Lindau tenei.

pheochromocytoma

Ki te pānga ki te repe adrenal, mate von Hippel-Lindau he ahua whakakitea o pheochromocytoma. Tenei neoplasm e puta ana matū o te medulla adrenal ko te tikanga mārire i te natura. I roto i te nuinga o te wā pāngia i te tau o e pā ana ki 30 tau, me te e āhuatanga e te iu-rua, wae maha, me te kaha ki te heke ki te kopa pātata.

whakakitea Pheochromocytoma te āhuatanga e whai ake nei:

• Ātete ki te therapy antihypertensive, takawhita matua.
• E pā ana ki te pēhanga toto cranialgia.
• kiri koma.
• Haafifi i ki hyperhidrosis.
• Tachycardia.

Cancer o te mate repe taiaki

Pancreatic tāupe māuiuitanga mate pukupuku: Ka taea e te pukupuku hei rānei āhua Koló mārere ranei. He hanganga rite ki rānei cysts neuroendocrine puku ranei.

Various tukanga o te mate pukupuku e pa ana nga repe taiaki, kua kitea i roto i te hawhe o te tūroro ki te mate Von Hippel-Lindau. Tohu e pā ana ki, te tikanga ki te mahi waimaero pancreatic.

Ko te tau toharite o tūroro i te wa o te rapunga o te pukupuku o 33-35 tau. I roto i te take o te tukanga mārere tukanga metastatic whakahaua te ki te ate.

puku pūwhera Endolymphatic

Tipu ki te syndrome ingoa, tonu kua te tukanga oncologic he akoranga Koló, me te whakaaturia e whai ake:

• Rongo disorders, ki runga ki te mate katoa o te rongo.
• Whanoke.
• maumaui Diskoordinatornye.
• Tinnitus.
• Paresis o uaua kanohi.

tātaringa

kawea te tātaritanga tuatahi kei te roto i runga i te pūtake o te whakamātautau whānui, me te ophthalmologic o te manawanui, anamnesis, tae atu te utuafare tuku.

Tino kōrero ko te ako o te toto, ki te tāutu i tona ihirangi o te kūhuka, me catecholamines.

kia Kitenga o te pukupuku e whakamana te whakamahi i atahanga te kōwarotanga autō (MRI).

Ko te puna o te mōhiohio tino mō te kite wawe o te mate kanohi he angiography antibody. Tenei tikanga tātaritanga whakahaere te tāutu o nga mau faaiteraa tuatahi o te mate i roto i te fundus toto kahore nei i tuhituhia i roto i ophthalmoscopy (pērā i telangiectasia, oko hou i hanga). I roto i te take o te ahunga whakamua o te tukanga pathological, heheu tenei tikanga te oko kai i te puku nui mua atu i ophthalmoscopy.

Whakaotia te whakamātautau whānui ngā o te ngā tukanga tātaritanga e whai ake nei:

1. Rorohiko me te tomography te kōwarotanga autō. Na roto i te whakamahi o enei tikanga e tino nui haere te tokomaha pāngia i roto i te tīmatanga o te mate. A i roto i tenei take, he uaua ki te hamani maha ratou.
2. Ultrasound atahanga.
3. Angiography Ko te puna o te mōhiohio whāinga e pā ana ki te mea kei te tupu i te mea okana te puku.
4. Pneumoencephalography.

He mea nui ki te mohio e i roto i te take o te rapunga o puku i roto i tetahi o nga tinana, he mea e tika ana ki te arahi i te whakamātautau tonu ki te tutakina atu wāhanga o te māuiuitanga.

maimoatanga

huarahi Common ki te maimoatanga o te syndrome von Hippel-Lindau ki te mau parau tumu o te therapy pukupuku. kia integrated therapy me ngā tikanga hāparapara, me te radiation. whakamahia ia o ratou te tino i roto i runga i te tohu, contraindications, me ngā āhuatanga o te manawanui ngā puku.

Rongoā e whakamahia ana te nuinga rite te therapy symptomatic mo te ako o etahi mahi o nga tinana takitahi me te huru whānui o te manawanui.

outlook

Ki te tātaritanga wā me te maimoatanga tīpakohia tika, ahunga whakamua o te mate, me te ona pānga kino i runga i te tinana taea ki te whakahaere. whakaritenga whakahauanga - te tātaritanga me te tomokanga o te maimoatanga i te tīmatanga o te wāhanga.

Heoi, i roto i ētahi wā, ahakoa te mau tautooraa i hanga, tonu rawakore hoki te manawanui te waitohunga no o te mōrea tiketike o pōauautanga.