He aha ka Von Hippel-Lindau Syndrome (VHL)? E kamaʻilio maʻalahi kākou e pili ana.

Ua lohe paha ʻoe i ka Von Hippel-Lindau Syndrome? ʻAʻole paha ʻoe i ʻike. He mea paʻakikī iki paha ia, akā he ʻano maʻi genetic kakaikahi loa ia. I ka ʻōlelo maʻalahi, ʻo ka mutation i loko o kahi gene i kapa ʻia ʻo VHL ke kumu o nā puʻupuʻu a me nā cysts i piha i ka wai e hana ʻia ma nā ʻāpana like ʻole o ke kino. Mai hopohopo ke lohe ʻoe i kēia. E kamaʻilio kākou e pili ana i ia mea me ka maopopo a me ka maʻalahi.

He aha maoli ka maʻi VHL?

He kūlana ʻo VHL i hoʻokumu ʻia e kahi loli i loko o kā mākou mau genes. Hiki i kēia ke hana i nā ʻāpana like ʻole o kou kino, no ka laʻana,

• Nā maka
• lolo
• ʻO ke kaula iwi kuamoʻo
• Pepeiao o loko
• Nā kelepa adrenal
• ʻO ka pancreas
• nā puʻupaʻa
• Nā kino hānau

Hiki i nā tumors ke hana ma nā wahi e like me ...

ʻO ka mea maikaʻi loa, ʻo ka hapa nui o kēia mau ulu ʻana he benign . ʻO ia hoʻi, ʻaʻole lākou he maʻi kanesa. Eia nō naʻe, ʻoi aku ka nui o ka pilikia o kekahi me kēia maʻi i ka loaʻa ʻana o ke kanesa puʻupaʻa a me ka pancreatic. No laila he mea nui e makaʻala i kēia.

No ke aha e kū mai ai kēia maʻi VHL?

ʻO ka maʻamau, ʻo ka gene VHL i loko o ko mākou kino ke kāohi i ka ulu ʻana o nā puʻupuʻu ma ka pale ʻana i nā cell mai ka māhele ʻana me ke kāohi ʻole ʻia. Ua like ia me ke kiaʻi i loko o ko mākou kino. Akā i loko o kekahi me ka maʻi VHL, ua loli a hoʻololi ʻia paha kēia gene. A laila ʻaʻole hana pono ka hana a kēlā kiaʻi. ʻO ka hopena, ulu nā cell maʻamau ʻole ma waho o ke kaohi a hoʻomaka e hana i nā puʻupuʻu.

ʻElua ala nui e hiki ai kēia kūlana:

1. Hoʻoilina mai nā mākua: Ma kahi o 8 o 10 mau kānaka me VHL e hoʻoilina mai ko lākou makuahine a makuakāne paha. Hoʻoilina ʻia ia ma ke ʻano autosomal dominant , ʻo ia hoʻi, inā loaʻa i kekahi makua ke kūlana, loaʻa i kēlā me kēia o kā lākou mau keiki he 50% ka manawa e hoʻoilina ai.

2. Ka hanana maʻamau: Ma kahi o 2 o 10 mau hihia, ʻaʻole kēia he mea i hoʻoilina ʻia mai nā mākua mai. Hiki ke hana ʻia kēia kūlana ma muli o kahi loli maʻamau i nā genes (mutation spontaneous ) i nā wā mua o ka ulu ʻana ma ke ʻano he embryo.

He aha nā hōʻailona o VHL?

Hiki ke ʻokoʻa loa nā hōʻailona o VHL mai kēlā kanaka a kēia kanaka. ʻO kēia no ka mea e pili ana nā hōʻailona i kahi o kou kino i loaʻa ai ka puʻupuʻu. Hiki i kekahi poʻe ke hele no nā makahiki me ka ʻole o nā hōʻailona.

ʻOiai hoʻomaka pinepine nā hōʻailona ma kahi o 26 mau makahiki, ʻaʻole paha e loaʻa i kekahi poʻe nā hōʻailona nui a hiki i ka 65 mau makahiki. ʻOkoʻa nō hoʻi ka makahiki e hoʻomaka ai nā hōʻailona ma muli o ke ʻano o ka puʻupuʻu. Eia kekahi laʻana:

• Nā puʻupuʻu maka (retinal hemangioblastomas): 12-25 makahiki
• Nā puʻupuʻu o nā kīʻaha koko i loko o ka lolo a i ʻole ke kaula kuamoʻo (hemangioblastomas): 18-35 mau makahiki
• Nā puʻupaʻa puʻupaʻa a i ʻole ke kanesa (renal cell): ma waena o 25-50 mau makahiki
• Nā puʻupuʻu pepeiao o loko (nā puʻupuʻu ʻeke endolymphatic): ma waena o 24-35 mau makahiki

Pehea e ʻike ʻia ai ka VHL?

Inā loaʻa i kekahi o kou ʻohana ke ʻano, a inā paha e kānalua kāu kauka he VHL kou, e kuhikuhi ʻo ia iā ʻoe no kahi hoʻokolohua genetic . Hana ʻia kēia me kahi hāpana koko. ʻO kēia wale nō ke ala e ʻike pono ai inā he loli kou i ka gene VHL.

Nā kūlana maʻamau e hiki ai i ke kauka ke manaʻo iā VHL:

• Ke loaʻa ʻana o kahi puʻupuʻu maka (hemangioblastoma maka) i ka wā ʻōpiopio.
• ʻO ke kanesa puʻupaʻa ma mua o 40 mau makahiki.
• Loaʻa nā ʻōpū he nui (hemangioblastomas) i loko o ka lolo a i ʻole ke kaula kuamoʻo.
• Loaʻa nā puʻupaʻa a i ʻole nā ​​​​cyst he nui i loko o nā puʻupaʻa a i ʻole ka pancreas.

Inā ua ʻike ʻia ʻoe me VHL, ʻo ka hana nui aʻe ka nānā pono ʻana.

He aha ka Nānā Hana?

He mea nui paha kēia, akā ma nā huaʻōlelo maʻalahi, ʻo ia hoʻi, inā ʻaʻohe ou hōʻailona, ​​e nānā mau ana kāu hui lapaʻau iā ʻoe. ʻO ia hoʻi, inā ulu kahi puʻupuʻu hou a i ʻole e nui aʻe kahi puʻupuʻu kahiko, hiki ke ʻike koke ʻia a hiki ke hoʻomaka ʻia ka lāʻau lapaʻau e pono ai. ʻO kēia ka puʻuwai o ka hoʻokele VHL.

ʻOkoʻa kēia mau hoʻokolohua ma muli o kou mau makahiki.

• Mai ka wā ʻōpiopio (1-4 makahiki): E nānā ʻia kou mau maka e ke kauka maka i kēlā me kēia 6 a 12 mau mahina. Ma hope o 2 mau makahiki, e nānā ʻia kou koko i kēlā me kēia makahiki.
• Kamaliʻi (5-10 mau makahiki): Hoʻomau ʻia nā hoʻokolohua maka. Eia kekahi, hana ʻia nā hoʻokolohua mimi a i ʻole ke koko (metanephrines) e nānā i nā ʻōpū adrenal gland (pheochromocytomas).
• ʻŌpio (mai ka makahiki 11): I kēlā me kēia mau makahiki, hana ʻia kahi scan MRI e nānā i ka lolo a me ke kaula kuamoʻo. Nānā ʻia hoʻi ka lohe.
• ʻO ka wā makua (mai ka 15 mau makahiki): Hana ʻia kahi scan MRI o ka ʻōpū i kēlā me kēia ʻelua makahiki e nānā i nā puʻupaʻa, ka pancreas, a me nā kelepa adrenal.

Na kāu kauka e hoʻoponopono i kēia papa hana e kūpono iā ʻoe.

He aha nā lāʻau lapaʻau no VHL?

ʻO ke ʻano o ka mālama ʻana no VHL e pili ana i ke ʻano, ka nui, a me kahi o ka puʻupuʻu. Inā ʻaʻole ka puʻupuʻu he maʻi kanesa, liʻiliʻi, a maikaʻi ʻole, ua lawa paha ka nānā ʻana me ka ʻole o kekahi lāʻau lapaʻau.

Aia kekahi mau ʻano lapaʻau nui:

1. Lāʻau lapaʻau: Ua holomua nui ka lāʻau lapaʻau belzutifan (Welireg) i hoʻolauna hou ʻia nei i ka hoʻēmi ʻana a me ke kāohi ʻana i ka laha ʻana o kekahi mau puʻupuʻu e pili ana i ka VHL (ka maʻi ʻaʻai puʻupaʻa, hemangioblastomas).

2. ʻO ke ʻoki kino: ʻO ke ʻoki kino ka lāʻau lapaʻau maʻamau no VHL. ʻO nā cysts e hoʻoulu nei i nā hōʻailona, ​​​​e ulu ana, a i ʻole e hōʻike ana i nā hōʻailona o ke kanesa e wehe ʻia ma ke ʻoki kino.

3. Lapaʻau radiation: ʻO ka hoʻohana ʻana i nā kukuna ikehu kiʻekiʻe e luku i nā puʻupuʻu. Hoʻohana kūikawā ʻia kēia no kekahi mau puʻupuʻu e kū mai ana ma ka lolo a me ka pepeiao.

4. Nā lāʻau lapaʻau ʻē aʻe: Aia nā lāʻau lapaʻau hou no ke kanesa puʻupaʻa e like me Ablation (ka luku ʻana i ka puʻupuʻu me ka hoʻohana ʻana i ka wela nui a i ʻole ke anu nui) a me Immunotherapy .

Na kāu hui lapaʻau e hoʻoholo i ke ʻano o ka lāʻau lapaʻau kūpono loa iā ʻoe.

Ke noho nei me VHL a me ke olakino noʻonoʻo

He mea maʻamau ka makaʻu, ka hopohopo, a me ka huikau ke ʻike ʻoe he maʻi laha ʻole kou e like me VHL. Kiʻekiʻe loa ke kaumaha ("scanxiety") ke hoʻomākaukau nei ʻoe no kahi scan a ke kali nei i nā hopena.

Aia kekahi mau mea hiki iā ʻoe ke hana e ola i kahi ola olakino a hauʻoli me kēia maʻi:

• ʻAi olakino: E ʻai i ka ʻai kaulike me ka nui o nā mea kanu, nā huaʻai, nā ʻiʻo momona, a me nā protein e like me ka iʻa. E pale loa i ka puhipaka.
• Hoʻoikaika Kino: Hiki i ka hoʻoikaika kino maʻalahi e like me ka hele wāwae i kēlā me kēia lā ke hōʻemi i ke kaumaha a mālama i kou kino i ke olakino.
• Hoʻomaha noʻonoʻo: E hana i nā mea e like me ka yoga, ka noʻonoʻo ʻana, a pēlā aku. E hoʻokaʻawale i ka manawa no nā mea e lawe mai iā ʻoe i ka maluhia o ka noʻonoʻo (e like me ka heluhelu ʻana i kahi puke maikaʻi, ka hoʻolohe ʻana i kahi mele).
• E noi i ke kōkua: E kamaʻilio me kou ʻohana a me nā hoaaloha pili e pili ana i kēia. E haʻi i kou mau manaʻo. Inā makemake ʻoe i ke kōkua (e ʻike i ke kauka, kōkua me ka hana home), mai makaʻu e haʻi pēlā.
• E hilinaʻi i kāu hui lapaʻau: E nīnau i kāu kauka i nā nīnau a hopohopo paha āu. He mea kōkua nō hoʻi ka mālama ʻana i kahi puke moʻolelo o kāu mau hōʻailona a me nā hopena hoʻāʻo.