Njani isifo eyayivela Hippel-Lindau?

Isifo, eza kuxutyushwa kamva kweli nqaku, ngokuqhelekileyo kunganxulunyaniswa iqela ukuphazamiseka yemfuza. osemqoka yalo esentloko kukuba ukuyilwa yamathumba ezininzi emzimbeni efunyenwe ancedisana amasebe awohlukeneyo. Yintoni benamzimba unjani arhabaxa abuhlungu, kuxhomekeke, njengoko kwabonakala von Hippel-Lindau syndrome.

Nangona kunjalo, kwimeko eyaziwa ezibandakanya izigulane ezisibhozo, ezivela usapho olunye nje kuphela uphawu waba isifo sezintso polycystic. Uxilongo kule meko iye ukuzicwangcisa usebenzisa isixhobo se ukuphawulwa unesiphako yemfuza (wezakhi).

isifo von Hippel-Lindau linxulumene sifo ezinqabileyo, kunye nezihlandlo livela - icala elinye ngalinye 36,000 ezizalwayo.

Indlela kophuhliso izifo

Isiseko sifo von Hippel Lindau yi ilifa uhlobo disorder nolahlo ngokubanzi luphawulwa ukwanda ngokugqithisileyo laphu capillary ukubonakala ngenxa yoko inani elikhulu yamathumba neoplastic.

Esi sifo sisasazwa kwisizukulwana esilandelayo ngendlela lubalaseleyo autosomal, okt phambi isakhi ujiko a ngezifo, omnye wabazali, amathuba okugula wenzala yi-50%.

I siphene (ziye) iziphumo kwezithandani zofuzo, nto leyo suppressor wokukhula ithumba.

Obubonakala - Iinkqubo umhlaza

Eyona engundoqo zokubonisa von Hippel Lindau syndrome - nangezilonda yebhinqa, kwiCerebellum, umnqonqo, retina, nezibilini. Uluhlu neoplasms okunokwenzeka:

• Hemangioblastoma - ube zalapha kweli kwiCerebellum kunye retina; zivela inyama luvo. CNS neoplasms babe rhoqo ingenzeka izifo xa izigulane von Hippel-Lindau ubuncinane 60%. I-avareji yobudala izigulane abaye bafumanisa olu hlobo yamathumba nervous system central, kwiminyaka engama-42 ubudala.
• Angioma - a neoplasm imvelaphi semithambo, kunye eyendawo apha emqolo.
• Cysts. Le neoplasm ukuba ngaphakathi umngxuma ezele ulwelo. Izinto ezinjengezi zinako ukuba eqalisiweyo isibindi, intso, iba lityhalarha nepancreas. Ngokukhethekileyo, sezintso pancreatic cysts afumaneka 33-54% yamatyala.
• Pheochromocytoma - Ithumba evela iiseli Medulla adrenal. Izehlo - malunga ne-7% ngayo izigulane. I-avareji yobudala kwezigulane pheochromocytoma - malunga neminyaka engama-25.

• carcinoma lweseli. Ngokukodwa, ubudala avareji zamatyala kunye nale ithumba - engama-43.
• Xa amadoda sifo eyayivela Hippel-Lindau uyakwazi ukuphuhlisa neoplasms indalo nabungozi kwi amasende (umzekelo, cystadenoma papillary).
• Abafazi baye bafumana ithumba sisilonda esidumbileyoesingaphakathi kwemisipha zesibeleko.

Iikhrayitheriya ngayo uphethwe

Lokufunyaniswa "isifo von Hippel-Lindau" ezinokubonelelwa xa efumanise ubuncinane omnye thaca In luhlu lulandelayo iimpawu. Kodwa kusenokwenzeka ukuba unayo imbali ubuncinane omnye amalungu eentsapho hemangioblastoma yomguli central system luvo, hemangioblastoma semehlo, ngokobuninzi esinganyangekiyo kwezintso okanye adenocarcinoma:

• hemangioblastoma ukuba kwasendaweni kwi izihlunu cerebellar kwakunye nakwezinye iindawo inkqubo luvo;
• hemangioblastoma le umnqonqo;
• hemangioblastoma ne eyendawo kwi umongo;
• hemangioblastoma kwi retina;
• umonakalo inyama sezintso esinganyangekiyo;
• adenocarcinoma sezintso;
• cyst;
• tsistadenokartsinoma;
• pheochromocytoma;
• adenoma epididymal.

Kufuneka kuqatshelwe ukuba kwezonyango amalungu bekwi ingxaki syndrome von Hippel-Lindau - yeenkqubo zengqondo, zamehlo, nomchamo, internal medicine.

CNS hemangioblastoma

Eyona njalo ingxelo mpawu syndrome von Hippel-Lindau hemangioblastoma luphuhliso kwiCerebellum, umnqonqo, okanye retina. Ingaba kwi ithumba kwiCerebellum sele ezi mpawu zilandelayo:

• Intloko olwandisa indalo.
• Isicaphucaphu, ukugabha.
• Ukungaqiniseki ukuhamba, ngenxa uququzelelo kakuhle.
• Nesiyezi.
• Ukuphazamiseka lokuqonda (uphawu amanqanaba yamva sifo).

Xa hemangioblastoma kwasendaweni e umnqonqo, iimpawu eziphambili lonyango ukuhla ngovakalelo, paresis kunye nokukhubazeka, iingxaki micturition kunye nenkqubo defecation. Iintlungu syndrome elaziwa manqaphanqapha kuphela.

Olu hlobo ithumba bobabo obuqhubekayo kancinci. A kakhulu ulwazi ukwenzela iziphumo zokuxilonga kunye nolawulo nendlela uhlolo ibonakaliswa, Ilizwi livakala Magnetic iMifanekiso (MRI), umehluko isabelo ngcono isampula.

Indlela esebenzayo kuphela ukunyanga kwiCerebellum hemangioblastoma namhlanje kokususa. Ukusetyenziswa kwemitha kunye neendlela zonyango iziphumo ezanelisayo HIV ingavezwa.

Emva hemangioblastoma ukususwa microsurgical, njengoko umthetho, loo nto ayithethi zenzeke, kodwa zivela kwezinye ngamathumba. Xa unyango zoqhaqho nethumba kuyimfuneko ukuba ukuthatha ingqalelo Ukuba kwisininzi wayo, nto leyo ehambisana esi sifo eyayivela Hippel-Lindau.

angiomatosis semehlo

Eyendawo lwamehlo ye zophendlo lwezifo inkqubo Uphawu na iimpawu triad:

• ukufumaneka angioma;
• vasodilation kwi fundus;
• ubukho exudation subretinal (ukuqokelelana ulwelo - ukudumba imveliso - phantsi inwebu), nto leyo kunokubangela uphuhliso looding exudative semehlo kwi eliqhubela phambili kwesi sifo.

Ngokuba kwisigaba sokuqala esi sifo ngokuqhelekileyo ukunciphisa nombala kwi fundus, ukwanda tortuosity kwemithambo yegazi. Xa icinezelwe kwi lweliso lakho kwaye iphawulwe pulsation kwemithambo ngemithambo.

Kumanqanaba yamva vasodilatation kunye nenkqubela tortuosity semithambo, ukuyilwa aneurysms kunye angiomas, jonga glomeruli hlukile ngeenxa - oku kube ngumqondiso ethile yokugula eyayivela Hippel-Lindau.

pheochromocytoma

Ukuba luchaphazela adrenal, isifo von Hippel-Lindau luhlobo wabonisa pheochromocytoma. Le neoplasm ziyenzeka izinto ze Medulla adrenal ikholisa ukuba ingozi ngokwendalo. Kwiimeko ezininzi kwafunyaniswa eneminyaka engama-30 kwaye iphawulwa-kabini ezimbini, iiyunithi ezininzi kunye nesakhono iya ku kwizihlunu ezikufutshane.

Pheochromocytoma wabonisa mpawu zilandelayo:

• Resistant kuthomalaliso umfutho, umfutho wegazi.
• Ezinxulumene cranialgia uxinzelelo lwegazi.
• isikhumba Pale.
• Utyekelo hyperhidrosis.
• Tachycardia.

Umhlaza ukoyiswa pancreas

Pancreatic cancer ngezifo bume: yamathumba isenokuba ingozi okanye amabi uhlobo. A isakhiwo njengako nokuba cysts okanye neuroendocrine ithumba.

iinkqubo ezahlukeneyo zomhlaza ezichaphazela injeke, zifumaneka isiqingatha izigulane sifo eyayivela Hippel-Lindau. Iimpawu ezayanyaniswa, ngokubanzi kunye umsebenzi othile pancreatic.

I-avareji yobudala izigulane ngexesha efumanise yamathumba iminyaka 33-35. Kwimeko inkqubo elinobuhlungu inkqubo kuwenza sibhekiswe esibindini.

Endolymphatic sac Ithumba

Kusenzeka kunye igama syndrome, inkqubo oncologic usoloko ikhondo elihle kwaye kuboniswa ngolu hlobo lulandelayo:

• Ukuva yokudla, ukuya ilahleko iyonke iindlebe.
• Nesiyezi.
• Diskoordinatornye nokuhlukunyezwa.
• Ukuduma.
• Paresis imisipha yobuso.

ekuxilongweni

Uxilongo lokuqala lwenziwa ngokusekelwe koviwo ngokubanzi kunye ophthalmologic yomguli, anamnesis, kuquka nentsapho zamafa.

ulwazi kakhulu isifundo wegazi, ukuze ukuchonga isiqulatho yayo glucose, kunye catecholamines.

Ukuba nomfanekiso yamathumba kufuneka kwenziwa ngokusebenzisa iinkcukacha ngemagnethi livakale umfanekiso (MRI).

Lo mthombo wolwazi esibalulekileyo efumanise wesifo iliso kudala angiography ezibengezelayo. Le ndlela zokuxilonga ibhexesha ukuphawulwa wabonakala zokuqala wezifo kule fundus yegazi apho ingangeni ngexesha ophthalmoscopy (ezifana telangiectasia, izitya elalisandul 'ukusekwa). Kwimeko ukuqhubela phambili inkqubo lwezidumbu, le ndlela utyhila isitya ukondla nethumba kakhulu ngaphambi ophthalmoscopy.

Gcwalisa uviwo ngokubanzi iqulathe ezi nkqubo zokuxilonga zilandelayo:

1. Ikhompyutha kunye zibuthe ekuvakaleni kwelizwi Itomography. Ngokusebenzisa ezi ndlela liye landa kakhulu inani olufunyanwa nisaqala zesi sifo. Kwaye kulo mzekelo, badla nzima ukunyanga.
2. Ultrasound.
3. Angiography ngumthombo inkcazelo njongo koko kwenzekayo koko ilungu elo thumba.
4. Pneumoencephalography.

Kubalulekile ukwazi ukuba xa efumanise ithumba kwelinye lala maqurhu angaphandle, kuyimfuneko kukukhokelela zoviwo ezipheleleyo ngaphandle kwezinye iinkalo ngezifo.

unyango

iindlela ziqhelekileyo yonyango syndrome von Hippel-Lindau kunye nemigaqo unyango lomhlaza. Therapy kufuneka adityaniswe ezidityanisiweyo ubuchule zotyando kunye radiation. Ngamnye kubo isetyenziswa ngqongqo ngokuhambelana ukwalatha, Izimo, kwaye iimpawu nethumba ogulayo ethile.

Imithi ikakhulu unyango kwangumqondiso ukuba uqeqesho kwimisebenzi ethile imizimba ngamnye kunye nemeko ngokubanzi malunga nesigulane eso.

Outlook

Xa isifo ngexesha unyango ekhethiweyo ngokuchanekileyo, ukuqhubela phambili sifo, kwakunye neziphumo zayo elibi emzimbeni akakwazi ukulawula. imfuneko olugunyazisiweyo - uxilongo kunye nokuqaliswa unyango usaqala.

Noko ke, kwezinye iimeko, nangona imigudu eyenziweyo, eli ALS usephantsi kumguli ngenxa umngcipheko ophezulu iingxaki.