Tus kab mob, uas yuav tau tham tom qab hauv kab lus, feem ntau yog cais raws li ib pawg ntawm cov kab mob sib txawv. Nws lub ntsiab yam ntxwv feature yog tsim nyob rau hauv lub cev ntawm ntau yam qog nqaij hlav los ntawm cov ntaub so ntswg ntawm ntau yam kabmob. Nws nyob ntawm seb lub cev twg raug cuam tshuam ntau dua, yuav ua li cas Hippel-Lindau syndrome tshwm sim nws tus kheej.
Txawm li cas los xij, muaj qhov paub txog yim tus neeg mob los ntawm tib tsev neeg, thaum tsuas yog cov tsos mob ntawm tus kab mob yog kab mob polycystic raum. Kev kuaj mob hauv qhov no tau tsim los ntawm kev txheeb xyuas qhov tsis xws ntawm caj ces (mutation).
Tus kab mob Hippel-Lindau yog ib yam kab mob tsis tshua muaj tshwm sim ntawm 1 ntawm 36,000 tus menyuam yug tshiab.
Mechanism ntawm kev loj hlob ntawm pathology
Lub hauv paus ntawm tus kab mob Hippel-Lindau yog ib qho kev tsis sib haum xeeb ntawm ib yam kab mob, uas tshwm sim los ntawm kev loj hlob ntawm cov ntaub so ntswg thiab cov tsos mob ntawm ntau cov qog neoplasms vim li ntawd.
Tus kab mob no kis mus rau lwm tiam neeg nyob rau hauv ib tug autosomal dominant yam, uas yog, yog hais tias ib tug ntawm cov niam txiv muaj cov noob encoding lub pathology, qhov tshwm sim ntawm tus kab mob ntawm cov me nyuam yog 50%.
Kev tsis zoo (kev hloov pauv) ua rau muaj kev cuam tshuam ntawm cov noob, uas yog cov tshuaj tua kab mobqog loj hlob.
Kev tshwm sim - cov txheej txheem oncological
Qhov tshwm sim tseem ceeb ntawm Hippel-Lindau syndrome yog cov qog ntawm lub caj pas pituitary, cerebellum, qaum qaum, retina, thiab cov kabmob sab hauv. Peb teev cov neoplasms ua tau:
- Hemangioblastomas - muaj qhov chaw nyob hauv lub cerebellum lossis retina; originate los ntawm paj hlwb. CNS neoplasms muaj qhov zaus tsawg kawg 60% hauv cov neeg mob Hippel-Lindau. Qhov nruab nrab hnub nyoog ntawm cov neeg mob uas muaj hom qog ntawm lub hauv nruab nrab lub paj hlwb yog 42 xyoo.
- Angiomas yog neoplasms ntawm vascular keeb kwm nyob rau hauv tus txha caj qaum.
- Cysts. Cov no yog cov neoplasms uas muaj cov kab noj hniav uas muaj cov kua dej sab hauv. Cov ntsiab lus zoo li no tuaj yeem tsim nyob rau hauv daim siab, ob lub raum, testicles thiab pancreas. Tshwj xeeb, cov hlwv ntawm lub raum thiab txiav txiav tshwm sim hauv 33-54% ntawm cov neeg mob.
- Pheochromocytoma yog qog hlav tawm los ntawm cov hlwb ntawm adrenal medulla. Qhov zaus ntawm qhov tshwm sim yog kwv yees li 7% ntawm cov neeg mob. Qhov nruab nrab hnub nyoog ntawm cov neeg mob uas muaj pheochromocytoma yog hais txog 25 xyoo.
- Cell carcinoma. Tshwj xeeb, hnub nyoog nruab nrab ntawm cov neeg mob qog no yog 43 xyoo.
- Cov txiv neej uas muaj tus kab mob Hippel-Lindau tuaj yeem tsim cov neoplasms benign hauv cov noob qes (xws li papillary cystadenoma).
- Cov poj niam muaj qog nqaij hlav hauv tsev menyuam.
Kev kuaj mob
Von Hippel-Lindau tus kab mob tuaj yeem kuaj tau yog tias tsawg kawg ib qho ntawm cov tsos mob tau teev tseg hauv qab no. Tab sis qhov no muaj peev xwm muab tau tias tsawg kawg yog ib tus neeg mob hauv tsev neeg muaj keeb kwm ntawm hemangioblastoma ntawm lub hauv paus paj hlwb, hemangioblastoma ntawm retina, cystic formations ntawm ob lub raum los yog adenocarcinoma:
- hemangioblastoma, uas nyob rau hauv cov ntaub so ntswg cerebellar, nrog rau lwm qhov ntawm lub hauv paus paj hlwb;
- qaum qaum hemangioblastoma;
- hemangioblastoma nrog localization hauv pob txha pob txha;
- hemangioblastoma ntawm retina;
- cystic lesion ntawm lub raum cov ntaub so ntswg;
- rau lub raum adenocarcinoma;
- cystic formations ntawm pancreas;
- cystadenocarcinoma;
- pheochromocytoma;
- epididymal adenoma.
Nws yuav tsum raug sau tseg tias cov kws kho mob tshwj xeeb cuam tshuam txog qhov teeb meem ntawm Hippel-Lindau syndrome yog neurology, ophthalmology, urology, therapy.
YHemangioblastoma CNS
Feem ntau tshaj tawm qhov tshwm sim ntawm von Hippel-Lindau syndrome yog kev loj hlob ntawm hemangioblastoma ntawm cerebellum, qaum qaum lossis retina. Cov qog uas tau tsim ntawm cerebellum muaj cov tsos mob hauv qab no:
- Headache of bursting nature.
- Ntaus, ntuav.
- Tsis paub meej thaum taug kev vim tsis muaj kev sib koom tes.
- kiv taub hau.
- Impaired nco qab (ib txwm rau tom qab theem ntawm pathology).
Thaum hemangioblastoma nyob hauv thaj chaw qaum qaum, cov tsos mob tseem ceeb ntawm kev kho mob yog txo qis, paresis thiab tuag tes tuag taw, tso zis tsis zoo thiab tso zis. Pain Syndrome tsuas pom qee zaus xwb.
hom qog no tau muab cais ua qeeb zuj zus. Thiab cov txheej txheem kev soj ntsuam zoo tshaj plaws rau kev kuaj mob thiab kev tswj hwm yog magnetic resonance imaging (MRI), txhim kho los ntawm qhov sib txawv ntawm thaj chaw hauv kev kawm.
Tib txoj hauv kev zoo los kho cerebellar hemangioblastoma hnub no yog nws txoj kev phais tshem tawm. Kev siv hluav taws xob thiab kev siv tshuaj tsis pom qhov txiaj ntsig zoo.
Tom qab tshem tawm cov microsurgical, hemangioblastoma feem ntau tsis tshwm sim, tab sis lwm yam neoplasms yuav tshwm sim. Hauv kev kho mob ntawm cov qog no, nws yog ib qho tsim nyog yuav tsum coj mus rau hauv tus account nws ntau ntau, uas yog ib qho ntawm cov kab mob Hippel-Lindau.
YRetinal angiomatosis
Rau qhov pom kev hauv cheeb tsam ntawm cov txheej txheem pathological, tus yam ntxwv tshwj xeeb yog triad ntawm cov cim:
- presence of angioma;
- vasodilation hauv fundus;
- muaj subretinal exudation (sau ntawm cov kua - ib yam khoom ntawm o - nyob rau hauv lub cornea), uas yuav ua rau kev loj hlob ntawm exudative retinal detachment nyob rau theem siab ntawm tus kab mob.
Rau cov theem pibTus kab mob feem ntau yog txo qis pigmentation hauv lub fundus, nce tortuosity ntawm cov hlab ntsha. Thaum nias rau ntawm lub qhov muag, pom cov hlab ntsha thiab cov hlab ntsha.
Nyob rau theem tom ntej, vasodilation thiab tortuosity ntawm cov hlab ntsha kev vam meej, tsim ntawm aneurysms thiab angiomas, uas muaj ib tug yam ntxwv tsos ntawm rounded glomeruli, yog ua tau - qhov no yog ib tug tshwj xeeb kos npe rau ntawm Hippel-Lindau kab mob.
Pheochromocytoma
Thaum cov qog adrenal raug cuam tshuam, tus kab mob Hippel-Lindau tau tshwm sim los ntawm kev tsim pheochromocytoma. Qhov no neoplasm, pib los ntawm cov khoom ntawm adrenal medulla, feem ntau yog benign. Nws raug kuaj pom nyob rau hauv feem ntau ntawm cov hnub nyoog li ntawm 30 xyoo thiab yog tus cwj pwm los ntawm ob tog, ntau lub pob thiab muaj peev xwm txav mus rau cov ntaub so ntswg uas nyob ib sab.
Pheochromocytoma yog tshwm sim los ntawm cov cim hauv qab no:
- Hypertension resistant to antihypertensive therapy.
- ntshav siab ntsig txog cranialgia.
- Ntxhais tawv nqaij.
- YTendency to hyperhidrosis.
- Tachycardia.
mob qog noj ntshav
Oncological pathology ntawm pancreas yog qhov sib txawv: cov qog tuaj yeem ua tau ob qho tib si benign thiab malignant. Thiab hais txog cov qauv, cov no yog cystic formations los yog neuroendocrine hlav.
Ntau yam txheej txheem oncological cuam tshuam rau txiav txiav tshwm sim hauv ib nrab ntawm cov neeg mob Hippel-Lindau. Cov tsos mob hauv qhov no feem ntau cuam tshuam nrog kev ua haujlwm tsis zoo ntawm pancreatic.qog.
Lub hnub nyoog nruab nrab ntawm cov neeg mob thaum lub sijhawm kuaj pom neoplasms yog 33-35 xyoo. Hauv cov txheej txheem malignant, cov txheej txheem metastatic raug coj mus rau daim siab.
Tumor of the endolymphatic sac
Kev txhim kho nrog lub npe hu ua tus mob, cov txheej txheem oncological no ib txwm muaj qhov zoo thiab pom nws tus kheej raws li hauv qab no:
- Kev hnov mob, nce mus txog qhov tsis hnov lus.
- kiv taub hau.
- Kev tsis sib haum xeeb.
- Tinnitus.
- Paresis ntawm lub ntsej muag nqaij.
Diagnosis
Kev kuaj mob ua ntej yog ua los ntawm kev kuaj pom dav dav thiab kho qhov muag ntawm tus neeg mob, anamnesis, suav nrog keeb kwm ntawm keeb kwm thiab tsev neeg.
Cov ntaub ntawv zoo heev yog kev kuaj ntshav uas qhia cov ntsiab lus ntawm cov piam thaj thiab catecholamines hauv nws.
Nws raug nquahu kom pom cov neoplasms siv magnetic resonance imaging (MRI).
Fluorescein angiography yog ib qho ntawm cov ntaub ntawv tseem ceeb rau kev kuaj mob ntxov ntawm qhov muag pathology. Cov txheej txheem kuaj mob no pab txheeb xyuas qhov tshwm sim thawj zaug ntawm pathology nyob rau hauv vascular txaj ntawm fundus, uas tsis tau sau tseg thaum lub sij hawm ophthalmoscopy (xws li telangiectasia, cov hlab ntsha tshiab tsim). Nyob rau hauv cov ntaub ntawv ntawm kev loj hlob ntawm cov txheej txheem pathological, cov txheej txheem no ua rau nws muaj peev xwm txheeb xyuas lub nkoj muab cov qog ua ntej ntau dua ophthalmoscopy.
Ib qho kev ntsuam xyuas ua tiav suav nrog kev kuaj mob hauv qab nokev kho mob:
- Computer thiab magnetic resonance imaging. Ua tsaug rau kev siv cov txheej txheem no, tus naj npawb ntawm cov kab mob tau kuaj pom thaum ntxov tau nce ntau. Thiab nyob rau hauv cov ntaub ntawv no, lawv feem ntau amenable rau txoj kev kho.
- YUltrasound tomography.
- Angiography yog qhov chaw ntawm lub hom phiaj cov ntaub ntawv hais txog lub cev twg lub cev neoplasm los ntawm.
- Pneumoencephalography.
Nws yog ib qho tseem ceeb kom paub tias yog cov qog nqaij hlav tau kuaj pom hauv ib qho ntawm cov kabmob, nws yuav tsum tau kuaj xyuas tag nrho kom tsis suav nrog cov kab mob ntawm lwm qhov chaw.
Kev kho mob
Txoj kev mus rau kev kho mob Hippel-Lindau syndrome yog ua raws li cov hauv paus ntsiab lus ntawm kev kho mob qog noj ntshav. Kev kho mob yuav tsum yog complex thiab sib txuas cov kev phais thiab hluav taws xob. Txhua tus ntawm lawv yog siv nruj me ntsis raws li cov lus qhia, contraindications, yam ntxwv ntawm ib tug qog thiab tus neeg mob tus mob.
Tshuaj yog siv los ua cov tsos mob kho kom kho qee qhov haujlwm ntawm tus kheej lub cev thiab cov xwm txheej ntawm tus neeg mob.
Huab cua
Nrog rau kev kuaj mob raws sij hawm thiab xaiv kev kho kom raug, kev txhim kho ntawm tus kab mob, nrog rau nws qhov tsis zoo rau lub cev, tuaj yeem tswj tau. Yam yuavtsum tau kawm uantej yog kev kuaj mob ntxov thiab kho.
Txawm li cas los xij, qee zaum, txawm tias tau siv zog ua, qhov kev cia siab tseem tsis zoo rau tus neeg mob vim muaj kev pheej hmoo loj ntawm kev loj hlob.kev nyuaj siab.
