Isifo seHippel-Lindau sibonakala kanjani?

Lesi sifo, esizoxoxwa kamuva kulesi sihloko, kuvame ukubhekwa eqenjini lezinkinga eziphilayo eziyinkimbinkimbi. Isici salo esiyinhloko ukubunjwa emzimbeni wezicubu eziningi ezivela ezinhlobonhlobo zezitho ezihlukahlukene. Kusukela kusiphi umzimba ozobe unzima kakhulu, kuxhomeke endleleni i-Hippel-Lindau syndrome ebonakala ngayo.

Kodwa-ke, iziguli eziyisishiyagalombili ezivela emndenini owodwa ziyaziwa, lapho uphawu olulodwa lwe-pathology lwaluyisifo sezinso ze-polycystic. Ukuxilongwa kulesi simo kwasungulwa ngokukhomba ukukhubazeka kwezakhi zofuzo (ukuguquguquka).

Isifo se-Hippel-Lindau sibangelwa ukutholakala kwezifo ezingavamile, futhi ukuvama kwalokho kwenzeka kungenye yezingane ezingama-36,000.

Indlela yokuthuthukiswa kwezifo

Isisekelo se-Gippel-Lindau isifo esiyinkimbinkimbi yesandulela-ngculazi esibonakala ngokusakazeka ngokweqile kwezicubu ze-capillary nokubonakala kwenani elikhulu lama-neoplasms wesisu ngenxa yalokho.

Lesi sifo sidluliselwa esizukulwaneni esilandelayo kuhlobo oluthile lwe-autosomal, okungukuthi, lapho kukhona i-gene coding for pathology, komunye wabazali, amathuba okuba nokulimala kule nzalo i-50%.

Ukuziphendulela (ukuguqulwa komzimba) kuholela ekususweni kwegesi, okuyinto engumcindezeli wokukhula kwesisu.

Ukubonakaliswa - izinqubo ezenzakalelayo

Ukubonakaliswa okuyinhloko kwe-Hippel-Lindau syndrome yizicubu ze-pituitary gland, i-cerebellum, intambo yomgogodla, i-retina, izitho zangaphakathi. Sichaza ukuhlelwa okusha okusha:

• I-Hemangioblastomas - yenza indawo yangakini ku-cerebellum noma i-retina yeso; Woza ezicubu zezinzwa. I-CNS neoplasms inezikhathi eziningi ezenzekayo ezigulini ezinezifo ezingama-Hippel-Lindau ezingenani elingama-60%. Isilinganiso seminyaka yeziguli ezinalezi zinhlobo zesifo sezinzwa zesisindo esitholakalayo sineminyaka engu-42 ubudala.
• I-Angiomas yizinhlayiya zemvelaphi ye-vascular enezindawo zangasese emthonjeni womgogodla.
• Ama-Cysts. Lawa angama-neoplasms anesigxobo esigcwele uketshezi ngaphakathi. Izakhi ezinjalo zingase zenziwe esibindi, izinso, amaconsi kanye nama-pancreas. Ngokuyinhloko, ama-cysts wezinso nama-pancre akhona kuma-33-54% amacala.
• I-Pheochromocytoma yisisu esivela kumaseli adrenal medulla. Ukuvama kwesenzakalo kungama-7% wamacala. Isilinganiso seminyaka yeziguli ezine-pheochromocytoma cishe iminyaka engu-25.

• I-carcinoma yeselula. Ngokuyinhloko, isilinganiso sobudala salabo abathintekayo nalesi sifo sineminyaka engu-43.
• Emadodeni anesifo se-Hippel-Lindau angathuthukisa izicubu ezinobuthi emasendeni (isibonelo, i-papillary cystadenoma).
• Kwabesifazane, kunesifo se-tumor ye-ligament yesibeletho.

Imigomo lapho kutholakala khona ukuxilongwa

Ukutholakala kwesifo "von Hippel-Lindau" kungenziwa uma okungenani enye yezimpawu ezibalulwe kuhlu olulandelayo litholakala. Kodwa lokhu kungenzeka ukuthi emlandweni okungenani oyedwa wamalungu omndeni we-hemangioblastoma yesiguli yesimiso sezinzwa eziphakathi, i-hemangioblastoma ye-retina, i-cystic yezinso zezinso noma i-adenocarcinoma:

• I-Hemangioblastoma, ene-localization emathangeni we-cerebellum, nakwezinye izingxenye zesistimu yezinzwa eziphakathi;
• I-Hemangioblastoma yezintambo zomgogodla;
• I-Hemangioblastoma enezindawo zangasese emnothweni wethambo;
• I-Hemangioblastoma ku-retina iso;
• Umonakalo wezinso zomuthi we-kidney;
• I-adenocarcinoma yama-renal;
• I-pancreas yama-cystic;
• I-Cystadenocarcinoma;
• Pheochromocytoma;
• I-Adenoma i-epididymal.

Kumele kuqashelwe ukuthi izidingo zezokwelapha, abameleli babo abhekane nenkinga ye-Hippel-Lindau syndrome - neurology, ophthalmology, urology, ukwelashwa.

I-Hemangioblastoma yesistimu enkulu yezinzwa

Ukubonakaliswa okuvame kakhulu kwe-von Hippel-Lindau syndrome kungukuthuthukiswa kwe-hemangioblastoma ye-cerebellum, intambo yomgogodla noma i-retina. Isifo esivela ku-cerebellum sinemibonakaliso elandelayo:

• Ukukhanda ikhanda lokushisa.
• Nausea, ukuhlanza.
• Ukungaqiniseki lapho uhamba, ngenxa yokuphazamiseka kokuxhumana.
• Isiyezi.
• Ukuphazamiseka kokuzizwa (okujwayelekile ngezigaba kamuva ze-pathology).

Lapho i-hemangioblastoma isendaweni yomgogodla, izimpawu ezisemtholampilo ezisemtholampilo zinciphisa ukuzwela, i-paresis nokukhubazeka, ukuphazanyiswa ezinkambweni zokugcoba nokuhlunga. I-syndrome yezinhlungu ibonakala kuphela ngezikhathi ezithile.

Lolu hlobo lwesisu lubhekiswe ekuthuthukeni kancane kancane. Futhi ulwazi oluningi kakhulu lokuxilongwa nokulawulwa ngendlela yokuhlolwa lubonakala njenge-imagination magnontic resonance (MRI), okuthuthukiswa ngokuqhathanisa indawo engaphansi kokucwaninga.

Indlela kuphela ephumelelayo yokwelapha i-hemangioblastoma ye-cerebellum kuze kube yimanje ukususwa kwayo kokuhlinzwa. Ukusetshenziswa kwe-radiotherapy nezindlela zokwelapha akubonanga umphumela omuhle okholisayo.

Ngemuva kokukhishwa kwe-microsurgical ye-hemangioblastoma, njengomthetho, awuphindeli emuva, kodwa ezinye iziphuzo ze-neoplasms zingabonakala. Lapho ukwelashwa okuhlinzekwa kwalesi sifo, kubalulekile ukucabangela ukuphindaphindwa kwayo, okuyisici sesifo seHippel-Lindau.

I-angiomatosis yokutakula

Indawo yokwelapha ye-ophthalmologic yenqubo yokugulisa umzimba, isici esiyisici sinezibonakaliso ezintathu:

• Ubukhona be-angioma;
• I-Vasodilation ku-fundus;
• Ubukhona bokukhishwa kwe-subretinal (ukuqoqwa komkhiqizo ovuzayo - ngaphansi kwe-cornea), okungaholela ekuthuthukiseni imishini yokubuyisela i-exudative esiteshini esiphakeme sesifo.

Ngezigaba zokuqala zalesi sifo, ukwehla okujwayelekile ekugqokeni kwe-pigmentation ku-fundus, ukuhlushwa okwenyuka kwemithambo yegazi. Uma ucindezela ebhokisini le-eye, ukukhishwa kokubili kwemisipha kanye nemivimbo kuphawulwe.

Ngezigaba zamuva, ukuvota kanye nokuhlukumeza kwezitsha kuqhubekela phambili, mhlawumbe ukwakheka kwe-aneurysms kanye nama-angiomas, anesimo esiwuphawu lohlobo lwe-glomeruli, luphawu oluthile lwesifo seGippel-Lindau.

Pheochromocytoma

Njengoba kunomonakalo omkhulu, isifo se-Hippel-Lindau sibonakala ngokubunjwa kwepheochromocytoma. Le neoplasm, evela emthonjeni we-adrenal medulla, uye, njengomthetho, umlingiswa onobuningi. Kutholakale ezimweni eziningi ezineminyaka engaba ngu-30 futhi ibonakala ngamaceleni amabili, ukuphindaphindwa kwezigcawu kanye nekhono lokushintshela kumathissi akhiwe eceleni.

I pheochromocytoma ibonakala kanje:

• Ukuphikisa ukwelashwa okunamandla, i-hypertension.
• Okuhlobene nokucindezela komzimba yi-cranialgia.
• Isikhumba esiphezulu.
• Ukuqhubekela phambili ku-hyperhidrosis.
• ITachycardia.

Cancer of the pancreas

Ukukhubazeka kwemvelo kwe-pancreas kuyahlukahluka: izicubu zingabhekana futhi zibuhlungu. Futhi ekuhleleni noma imfundo ye-cystic, noma izicubu ze-neuroendocrine.

Izinqubo ezihlukahlukene ze-incological ezithinta ama-pancre ayenzeka isigamu seziguli ezinezifo ze-Hippel-Lindau. Izimpawu zihlotshaniswa, njengomthetho, umsebenzi ongenaphutha we-pancreatic.

Isilinganiso seminyaka yeziguli ngesikhathi sokutholakala kwama-neoplasms iminyaka engu-33-35. Uma kwenzeka inqubo embi, inqubo ye-metastatic iqondiswa esibindi.

I-tumor ye-sac endolymphatic

Ukuthuthukisa ku-syndrome ebizwa ngokuthi, inqubo ehlinzekwayo yezinhlelo zenkolo ihlale inomuntu onobuningi wamanje futhi iboniswa kanje:

• Ukuphazamiseka kwamabhuku, kuze kuphele ukuqedwa kokuzwa.
• Isiyezi.
• Ukuphazamisa ukuphazamiseka.
• Memeza ezindlebeni.
• Imisipha ye-Parezy ebusweni.

Izifo

Ukuxilongwa kwangaphambi kokuqala kwenziwa ngesisekelo sohlolo jikelele nesifo se-ophthalmologic sesiguli, i-anamnesis, kufaka phakathi ifa-eyomndeni.

Ukwazisa kakhulu ukutadisha igazi, ukuveza okuqukethwe kwe-glucose nama-catecholamines kuwo.

Kunconywa ukubuka ngeso lengqondo imisindo yokusebenzisa i-imaging magnontic resonance (MRI).

Umthombo wolwazi olubalulekile ekuhlolisweni kokuqala kwe-eye pathology kuyinto fluorescent angiography. Le nqubo yokuxilonga isiza ukukhomba ukubonakaliswa kokuqala kwe-pathology embhedeni wamasongo we-fundus, engabhalwanga ngenkathi i-ophthalmoscopy (njenge-telangiectasia, imikhumbi esanda kusungulwa). Endabeni yokuqhubeka kwenqubo ye-pathological, le nqubo yenza kube lula ukuthola isisu sesondlo somkhumbi kakhulu ngaphambi kwe-ophthalmoscopy.

Ukuqedela ukuhlolwa okuphelele kuqukethe izinqubo ezilandelayo zokuxilonga:

1. I-computer ne-imaging resonance imaging. Ngenxa yokusetshenziswa kwalezi zindlela, inani lezifo ezitholakale ezigabeni zakuqala liye landa kakhulu. Futhi kulokhu bevame ukuthinteka ekwelapheni.
2. I-ultrasonic tomography.
3. I-Angiography iyinhloko yolwazi oluhlosiwe mayelana nokuthi yiluphi uhlobo isisu esithathayo.
4. Pneumoencephalography.

Kubalulekile ukwazi ukuthi uma i-tumor itholakale kwenye yezingxenye, kufanele kwenziwe ukuhlolwa okuphelele ukukhipha ukwelashwa kwezinye izindawo.

Ukwelapha

Okuvamile ukubhekana nokwelashwa kwe-Hippel-Lindau syndrome kuhambisana nemigomo yomuthi we-cancer. Ukwelapha kufanele kube okuphelele futhi kuhlanganise ukuhlinzeka ne-radiotherapy. Ngamunye wabo usetshenziswa ngokuqinile ngokuhambisana nezinkomba, ukuphikisana, izici zesifo esithile nesimo sesiguli.

Imithi isetshenziswa ngokuyinhloko njengendlela yokwelashwa ephawulekayo yokulungiswa kwemisebenzi ethile yezitho zomuntu ngamunye kanye nesimo jikelele sesiguli.

Isibikezelo

Ngokuxilongwa ngesikhathi esifanele kanye nokwelashwa okukhethiwe kahle, ukuthuthukiswa kwesifo, kanye nomthelela omubi emzimbeni kungalawulwa. Okudingekayo kuqala futhi kutholakala ukwelashwa kokuqala.

Kodwa-ke, kwezinye izimo, naphezu kwemizamo eyenziwe, lesi sifo sihlala singenakulungele isiguli ngenxa yengozi enkulu yokucindezeleka.