Sei chirwere Von Hippel-Lindau?

Chirwere, iyo ichakurukurwa gare gare munyaya, kazhinji anonzi boka kunzwisisa nemagene zvirwere. Its chikuru chepfungwa ndiyo paumbwe anomera akawanda mumuviri zvinobva munyama-siyana dzomuviri. Imhandoi muviri ichaparadzwa rova zvokuvapfuura, zvinoenderana, sezvo richiratidzwa of Hippel-Lindau syndrome.

Zvisinei, anozivikanwa nyaya yaibatanidza varwere sere, huchibva kubva mhuri dzakafanana chete chiratidzo chakanga polycystic cheitsvo. The chirwere ichi nyaya yakatogadzirwa vachishandisa kuziva majini urema (mutation).

Von Hippel-Lindau hosha chokuita isingawanzowanikwi chirwere, uye kakawanda parinowanika - imwe nyaya pa 36,000 kuzvarwa.

The mashandiro chirwere kukura

Hwaro of Hippel Lindau chirwere chacho chichigarwa nhaka hunhu generalized nyonganyonga chemafuta akawandisa yokuwedzera rirambe richibvira jira uye chitarisiko somugumisiro vakawanda neoplastic anomera.

Maperembudzi chakasvitswa runotevera mune autosomal hune tsika, kureva pamberi zviratidzo yeEncoding munhu zvokurwara, mumwe vabereki, iyo ndingangokuvara hwevanhu vanorwara mwana ndiyo 50%.

Urema (mutation) kunoguma kudzvinyirira pamusoro Gene, inova suppressor kuti bundu kukura.

Kuratidza - kenza pezvakaitwa

The kuratidzwa chikuru of Hippel Lindau chirwere - pituitary namamota, cerebellum, musana, the retina, nhengo dzomukati. List pangava neoplasms:

• Hemangioblastoma - vane localization muna cerebellum uye the retina; Rinobva huta tishu. CNS neoplasms vane kakawanda panowanikwa zvirwere varwere of Hippel-Lindau dzinenge 60%. Avhareji yezera wevarwere vakawana nechepakati tsinga namamota, makore 42 okuberekwa mhando iyi.
• Angioma - a neoplasm pamusoro vascular mavambo, pamwe localization ari musana.
• Cysts. neoplasm ichi kuva mukati mhango izere mvura. Kwakadaro zvinhu zvinogona aumbwa chiropa, itsvo, testis uye rwatata. Zvakananga, itsvo uye pancreatic cysts zvinowanika 33-54% nyaya.
• Pheochromocytoma - bundu zvinobva adrenal medulla masero. Kuitika - vanenge 7% of varwere. Avhareji yezera varwere pheochromocytoma - anenge 25 makore.

• Cell carcinoma. Kunyanya, avhareji zera kacho vane bundu ichi - makore 43.
• In varume chirwere Von Hippel-Lindau angatanga neoplasms benign hunhu ari manhu (semuenzaniso, papillary cystadenoma).
• Vakadzi vakawana bundu lesion kuti uterine nemarunda.

Nzira dzekuziva nadzo chirwere chiri

The chirwere kuti "chirwere of Hippel-Lindau" zvinogona kusvitsa pakuparwa vasabatwa vanenge mumwe akapa In inotevera mazita zviratidzo. Asi zvinokwanisika kana uine nhoroondo kupfuura rimwe mhuri nhengo murwere nechepakati tsinga hemangioblastoma, retinal hemangioblastoma, renal cystic idzodzo kana adenocarcinoma:

• hemangioblastoma ane localization mu cerebellar zvinyama uyewo mune dzimwe nechepakati tsinga;
• hemangioblastoma of musana;
• hemangioblastoma pamwe localization mu mumwongo;
• hemangioblastoma pamusoro the retina;
• cystic renal tishu kukuvara;
• renal adenocarcinoma;
• pancreatic cysts;
• tsistadenokartsinoma;
• pheochromocytoma;
• epididymal adenoma.

Zvinofanira kucherechedzwa kuti vanachiremba vane nhengo dziri mubasa dambudziko chirwere of Hippel-Lindau - neurology, ophthalmology, urology, zvemukati mushonga.

CNS hemangioblastoma

Inonyanyoshandiswa kushumwa zviratidzo chirwere of Hippel-Lindau hemangioblastoma ndiyo kukura cerebellum, musana, kana the retina. Riri cerebellum bundu rave zvinotevera zviratidzo:

• Nomusoro Expander hunhu.
• Kuda kurutsa, kurutsa.
• Kusanyatsoziva kufamba, nokuda vasingadzoreki Kufambisa.
• Dzungu.
• Vanotaura kuti pfungwa (yo akazotevera nzendo chirwere).

Kana hemangioblastoma localization mu musana, chikuru kurapwa zviratidzo ndivo vasanyanye nehanya, paresis uye muviri, micturition zvirwere uye defecation rikurumidze. Marwadzo chirwere rinozivikanwa chete neapo.

mhando iyi bundu yedzinza nezvishoma mberi. A kupfuura mashoko nokuda nechirwere uye kudzora nzira rokurohwa rinozivikanwa, Magnetic Resonance kuri (MRI), siyanisa kunowedzera mharidzo mugove.

The chete nzira inoshanda kurapa hemangioblastoma cerebellum nhasi ndiyo kuvhiya kubviswa. Kushandiswa nemwaranzi uye dzezvokurapa nzira hunogutsa yakanaka vasiri kuratidzwa.

Pashure microsurgical Kubviswa hemangioblastoma, sezvinoita mutemo, hazvina recur, asi angaita mune dzimwe anomera. Mugore kuvhiya kunaka bundu zvakafanira kufunga muzvizhinji kwayo, izvo runozivisa hosha Von Hippel-Lindau.

retinal angiomatosis

For ophthalmic localization pamusoro pathological muitiro hunhu ndiyo vanamwari vatatu vatatu zvinhu:

• Kuwanikwa angioma;
• vasodilation ari fundus;
• kuvapo subretinal exudation (kuunganidza Urume - kuzvimba chigadzirwa - pasi cornea), izvo zvinogona kukonzera kukura exudative retinal yokuzviparadzanisa azara chirwere chacho.

Nokuti kutanga nzendo chirwere yemanyorero kudukupiswa pigmentation ari fundus, vakawedzera tortuosity rwengarava ropa. Kana richingosimba yeziso uye segwapa pulsation pamusoro arteries uye mutsinga.

In akazotevera nzendo vasodilatation uye vascular tortuosity mberi, paumbwe aneurysms uye angiomas, kuva nevamwe Kutarira kumativi glomeruli - ichi ndicho chaicho chiratidzo chirwere Von Hippel-Lindau.

pheochromocytoma

Kana zvinokanganisawo adrenal omumuviri, of Hippel-Lindau chirwere kunoratidzwa chimiro pheochromocytoma. neoplasm ichi kuitika zvinhu zviri adrenal medulla iri kazhinji benign zvakasikwa. Muzviitiko zvizhinji chirwere aine makore anenge 30 uye kunoratidzwa maviri kuzviitirwa, dzakabatana akawanda uye mano tama kuti munyama pedyo.

Pheochromocytoma akaratidza zvinotevera zviri:

• Husingakwanisi antihypertensive kurapa, chirwere cheBP.
• Chokuita BP cranialgia.
• Akacheneruka ganda.
• Tsika hyperhidrosis.
• Tachycardia.

Kenza rwatata kukundwa

Pancreatic kenza zvokurwara shanduka: Mamota anogona kunge benign kana akaipa hunhu. A mamiriro maererano kana cysts kana neuroendocrine bundu.

Various dzinotsanagura kenza kukanganisa rwatata, inowanikwa hafu varwere vane chirwere Von Hippel-Lindau. Zviratidzo chokuita, kazhinji vane havachanyatsogoni pancreatic ushande.

Avhareji yezera wevarwere panguva vasabatwa anomera makore 33-35. Kana akaipa muitiro metastatic muitiro inoendeswa chiropa.

Endolymphatic zai mota

Virtual pamwe ainzi urwere, ari oncologic muitiro nguva dzose ane benign kosi uye anoratidzwa sezvinotevera:

• Kunzwa zvinetso, kusvikira zvachose atadze kunzwa.
• Dzungu.
• Diskoordinatornye kutyorwa.
• Tinnitus.
• Paresis kuti tsandanyama dzechiso.

Diagnostics

The rokutanga chirwere rinoitwa pahwaro vakawanda uye ophthalmologic kuzviongorora murwere, anamnesis, kusanganisira enhaka mhuri.

Very zvakwo kudzidza ropa, kuziva ayo zviri shuga, uye catecholamines.

Visualization anomera vanofanira kuitwa pachishandiswa simba rinonzi magnetic resonance kuri (MRI).

The mashoko anokosha kuti mangwanani vasabatwa kwezvirwere ziso riri fluorescent angiography. Izvi chidobi chirwere hwezvekukurukurirana ari kuziva kutanga kuratidzwa zvirwere muropa fundus zvisina kunyorwa panguva ophthalmoscopy (akadai telangiectasia, richangobva kuumbwa midziyo). Kana kuchinja zviri pathological muitiro, unyanzvi ichi anoratidza mudziyo zvokudya bundu ipapa pane ophthalmoscopy.

Pedzisa misoro kuongororwa inoumbwa zvinotevera chirwere maitirwo ezvinhu:

1. Computer uye rinobva resonance tomography. Uchishandisa izvi nzira ine yekudyidzana vakawedzera uwandu chirwere kumavambo nzendo chirwere. Zvino iyi, vari nyore kubata.
2. Ultrassom kuri.
3. Angiography itsime chinangwa mashoko kuitika kubva chii nhengo bundu.
4. Pneumoencephalography.

Zvakakosha kuziva kuti pakuparwa kuziva miedzo bundu muna mumwe mitumbi, zvinokosha kutungamirira kuongorora zvizere kuti asava dzimwe nzvimbo zvokurwara.

mabatiro

Common Nzira kuti pakurapa chirwere of Hippel-Lindau pamwe mirawu kenza mishonga. Zvipatara zvinofanira revatema uye kubatanidzwa zvomusejari uye nemwaranzi unyanzvi. Mumwe nomumwe wavo rinoshandiswa kunoparirwa maererano zvairatidza, contraindications, uye zvaidiwa chaizvo bundu murwere.

Mishonga inoshandiswa ainyanya sechinhu symptomatic kurapa nokuda rakasungwa zvimwe mashandiro nomunhu kwemiviri uye mukuru ezvinhu omurwere.

mataridzikiro

With nenguva chirwere uye nemazvo akasarudzwa kurapwa, kufambira mberi chirwere, uyewo yaro Migumisiro pamusoro muviri asingagoni kudzora. Fanira chinodiwa - nechirwere uye mharuro kunorapwa tanga.

Zvisinei, mune zvimwe zviitiko, pasinei kwakaitwa, kuti fungidziro inoramba murombo nokuda murwere nokuda mukuru ngozi yematambudziko.