Loaʻa iā ʻoe kēia mau puʻupuʻu ʻē ma kou kino? E kamaʻilio kākou e pili ana i ka maʻi von Hippel-Lindau (VHL).

Ke noʻonoʻo nei paha ʻoe no ke aha e loaʻa mau ai iaʻu nā puʻupuʻu ʻē ma koʻu kino, a i ʻole ke kumu e nalowale ʻole ai kekahi mau maʻi. I kekahi manawa hiki ke ʻoi aku ka paʻakikī o ke kumu o kēia ma mua o kā mākou e manaʻo ai. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi kakaʻikahi akā koʻikoʻi loa e makaʻala. ʻO ia ka maʻi von Hippel-Lindau, a i ʻole mākou e kapa iā ia he `(VHL)` no ka pōkole.

He aha ʻo von Hippel-Lindau (VHL)? E hoʻomaopopo maʻalahi kākou.

ʻAe, i kēia manawa ke noʻonoʻo nei paha ʻoe i ke ʻano o kēia `(VHL)`. I ka ʻōlelo maʻalahi, he maʻi genetic laha ʻole ʻo von Hippel-Lindau. Hana ʻia ia i ka wā e loaʻa ai kahi `(genetic mutation)` a i ʻole ka loli ʻana i kekahi o nā genes i loko o kou kino. ʻO kēia ke kumu o kou loaʻa ʻana o kahi pilikia kiʻekiʻe o ka hoʻomohala ʻana i nā tumors `(malignant)`, a me nā tumors `(benign)` a me nā cysts, ma nā wahi like ʻole o kou kino. I kekahi manawa kapa nā kauka i kēia ʻano `(von Hippel-Lindau syndrome`.

Ua ʻike ʻia e ka noiʻi he 97% o ka poʻe me kēia hoʻololi ʻana o ka genetic e loaʻa i kēia mau mea a me nā ʻōpū ʻē aʻe e pili ana i ka VHL i ka hiki ʻana i 65 mau makahiki. I ka hapanui o nā hihia, ʻo ke ʻoki kino nui no nā ʻōpū e pili ana i ka VHL he ʻoki ʻana e wehe i nā ʻōpū.

He aha nā maʻi kanesa e hiki ke pili me ka maʻi VHL?

Inā loaʻa iā ʻoe kēia maʻi `(VHL)`, ʻoi aku kou pilikia o ka loaʻa ʻana o hoʻokahi a ʻoi aku paha o kēia mau ʻano maʻi kanesa:

• ʻO ka maʻi kanesa puʻupaʻa cell clear (ccRCC): ʻO kēia ke ʻano maʻamau o ka maʻi kanesa puʻupaʻa. Wahi a nā loea, ma waena o 25% a me 60% o ka poʻe me VHL hiki ke loaʻa i kēia maʻi kanesa. E hoʻomanaʻo, ʻo nā puʻupaʻa kekahi o nā ʻōkana koʻikoʻi loa i loko o ko mākou kino, no laila he mea e hopohopo nui ai ka maʻi kanesa i loko o lākou.
• ʻO nā puʻupuʻu neuroendocrine pancreatic (pancreatic NETs): He ʻano puʻupuʻu kakaikahi kēia e hoʻomaka ana i loko o nā pūnaewele endocrine i loko o kāu pancreas. Hiki iā lākou ke ulu ma waena o 9% a me 17% o ka poʻe me VHL.
• Pheochromocytoma: He ʻōpū laha ʻole kēia akā hiki ke mālama ʻia e ulu ana i loko o ke kelepa adrenal. Hiki i kēia mau ʻōpū ke hoʻomaka ma ke ʻano he mau ʻōpū ʻaʻole kanesa, akā hiki ke lilo i kanesa ma hope. Loaʻa lākou i 10% a 20% o ka poʻe me VHL.
• ʻO nā cystadenomas ligament ākea: Hoʻopilikia kēia maʻi i nā wahine. Loaʻa ia ma kahi o 10% o nā wahine me VHL. He puʻupuʻu ia e hana kokoke ana i nā ʻōpū fallopian.

He aha nā puʻupuʻu ʻaʻole maʻi kanesa e hele mai me VHL?

ʻAʻole wale ke kanesa, akā, ʻo nā puʻupuʻu ʻaʻole kanesa hoʻi, ʻo ia hoʻi, nā puʻupuʻu i laha ʻole i nā ʻāpana ʻē aʻe o ke kino (metastasize), hiki ke ulu i ka wā e loaʻa ai ka VHL. ʻO ka mea nui loa o kēia mau mea ʻo ia ka hemangioblastoma.He mau puʻupuʻu ʻaʻole kēia no ka maʻi kanesa e hana ʻia ana i loko o nā kīʻaha koko o ka lolo, ke kaula kuamoʻo, a i ʻole ka retina. ʻOiai ʻaʻole lākou e pālahalaha, hiki iā lākou ke ulu nui a hoʻopilikia i nā ʻiʻo a puni, e hoʻoulu ai i nā pilikia olakino koʻikoʻi.

ʻO nā ʻano hemangioblastomas i ʻike ʻia e pili ana me `(VHL)`:

• ʻO ka hemangioblastoma retinal: He ʻano puʻupuʻu kēia e ulu ana i loko o ka maka. Hiki iā ia ke alakaʻi i ka nalowale o ka ʻike. Hōʻike ka noiʻi e ulu ana ia i loko o 60% o ka poʻe me (VHL).
• ʻO nā hemangioblastomas o ke kumu lolo a me ka cerebellar: He mau puʻupuʻu kēia i loko o ka lolo. Hiki iā lākou ke hoʻopilikia i kou kaulike a hoʻoulu i nā pilikia ʻē aʻe. Hoʻopilikia lākou ma waena o 13% a me 72% o ka poʻe me VHL.
• ʻO ka hemangioblastoma o ke kaula kuamoʻo: Hoʻomohala ʻia kēia ʻano hemangioblastoma ma waena o 13% a me 50% o ka poʻe me (VHL).

Eia kekahi, inā loaʻa iā ʻoe ʻo VHL, aia nō hoʻi ʻoe i ka pilikia o ka hoʻomohala ʻana i nā ʻōpū a me nā cysts non-cancerous e like me:

• ʻO nā cystadenomas epididymal: He mau puʻupuʻu kēia e hoʻopilikia i nā kāne. Hoʻomohala lākou i loko o ka epididymis, kahi ʻano liʻiliʻi e like me ka paipu e mālama ana i ka sperm, kokoke i nā testicles. Loaʻa lākou ma waena o 25% a me 60% o nā kāne me VHL.
• ʻO nā puʻupuʻu ʻeke Endolymphatic (ELST): He mau puʻupuʻu kakaikahi loa kēia. Inā loaʻa iā ʻoe ʻo VHL, hiki iā lākou ke ulu i loko o ka pepeiao o loko. Hoʻopilikia kēia ʻano ma waena o 10% a me 25% o ka poʻe me VHL.
• Nā Cysts: He mau cysts piha i ka wai kēia. Hiki i ka poʻe me VHL ke hoʻomohala i kēia mau cysts i loko o nā puʻupaʻa a me ka pancreas.

Pehea ka maʻamau o ka maʻi VHL?

He ʻano maʻi laha ʻole kēia. Hoʻopilikia ia ma kahi o hoʻokahi i loko o 36,000 mau kānaka. Hoʻomaka ka hapa nui o ka poʻe me VHL e hōʻike i nā hōʻailona i ko lākou mau makahiki 20. ʻO ia hoʻi, pono ʻoe e makaʻala e pili ana i kēia i ka wā ʻōpiopio.

He aha nā hōʻailona o ka maʻi von Hippel-Lindau?

Ma muli o kēia ʻano hiki ke hoʻoulu i nā puʻupuʻu e hana ma kou kino holoʻokoʻa, hiki ke ʻokoʻa nā hōʻailona. Aia ia i kahi o nā puʻupuʻu a me ka nui o nā puʻupuʻu. Hiki iā ʻoe ke ʻike i nā hōʻailona e like me kēia:

• ʻEha pinepine ka ʻeha.
• Ka nalowale o ka lohe a i ʻole ke kani mau ʻana o nā pepeiao (tinnitus).
• Ke koko kiʻekiʻe.
• Ka nalowale o ke kaulike i ka wā e hele ana.
• Hoʻemi ʻia ka ikaika o nā ʻiʻo a i ʻole ka paʻakikī i ka hoʻonohonoho ʻana i nā neʻe.
• Nā pilikia ʻike.
• Ka luaʻi ʻana.

E noʻonoʻo wale, pehea lā ko kākou hopohopo inā loaʻa iā kākou kekahi a ʻelua paha o kēia mau hōʻailona? No laila, inā loaʻa iā ʻoe kekahi o kēia mau hōʻailona i ka manawa hoʻokahi, he mea nui loa ia e ʻimi i ke kōkua lapaʻau.

He aha ke kumu o ka maʻi VHL?

He maʻi hoʻoilina ka maʻi Von Hippel-Lindau. Hana ia ke hoʻoilina ʻoe i kahi kope ʻano ʻē o kahi gene suppressor tumor i kapa ʻia ʻo VHL mai kekahi o kou mau mākua.

I ka ʻōlelo maʻalahi, ʻo kēia mau "genes suppressor tumor" ke kāohi nei i nā cell mai ka māhele wikiwiki ʻana, hiki ke alakaʻi i ka maʻi kanesa. Ua like ia me nā paleki ma ke kaʻa. Akā inā ua loli kēia mau genes, ua like ia me ka wehe ʻana i nā paleki a me ke kau ʻana i ka accelerator. Hoʻolalelale ka ulu ʻana o nā cell me ka hiki ʻole ke kāohi.

Hoʻoili ʻia ka maʻi ma ke ʻano hoʻoilina autosomal dominant. ʻO ia hoʻi, inā loaʻa i kekahi o kou mau mākua ka gene VHL ʻano ʻē, loaʻa iā ʻoe he 50% ka manawa e hoʻoilina ai a loaʻa i ka maʻi von Hippel-Lindau. Eia nō naʻe, ua hōʻike ʻia e ka noiʻi ʻana ma kahi o 10% o ka poʻe me VHL ʻaʻohe mōʻaukala ʻohana o ka maʻi. ʻO ia hoʻi, hiki ke hana ʻia nā hoʻololi genetic hou.

Pehea e ʻike ʻia ai ka maʻi VHL?

Manaʻo paha nā kauka he VHL kou inā he mau hōʻailona kou o kahi maʻi i hoʻokumu ʻia e VHL, e like me ka hemangioblastoma a i ʻole ka clear cell renal carcinoma. Akā ʻo ke ala wale nō e hōʻoia ai i kēia ma o ka hoʻāʻo ʻana i ka genetic. Inā loaʻa i kekahi o kou ʻohana ka maʻi Von Hippel-Lindau, he mea nui e nīnau i kāu kauka e pili ana i ka hoʻāʻo genetic nou.

He aha nā lāʻau lapaʻau no ka maʻi VHL?

ʻOkoʻa nā koho lapaʻau ma muli o ke ʻano o ka puʻupuʻu VHL a i ʻole cyst. E wehewehe kāu kauka i nā koho lapaʻau kūpono iā ʻoe. ʻO nā lāʻau lapaʻau maʻamau:

• ʻO ke ʻoki kino e wehe ai i ka puʻupuʻu.
• Kemoterapi.
• Hoʻōla radiation.
• ʻO ka lāʻau lapaʻau i hoʻolālā ʻia e pili ana i nā mea e like me ka peptide receptor radionuclide therapy (PPRT) a me nā tyrosine kinase inhibitors (TKI).
• ʻO ka lāʻau pale ʻana.
• Ka lāʻau lapaʻau hormone.

ʻO ka mea nui loa, ʻo ia ka ʻike mua ʻana i ka maʻi a hoʻomaka i ka lāʻau kūpono. A laila wale nō hiki iā ʻoe ke loaʻa nā hopena maikaʻi loa.

Hiki ke ho'ōla loa ʻia ka maʻi VHL?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka maʻi von Hippel-Lindau i kēia manawa. ʻO ka pahuhopu nui o ka mālama ʻana, ʻo ia ka ʻimi a wehe i nā puʻupuʻu i ka wā hikiwawe loa. Hiki i kāu kauka ke ʻōlelo aku i ke ʻoki kino e wehe i nā puʻupuʻu me nā lāʻau lapaʻau ʻē aʻe.

Inā loaʻa iaʻu ʻo VHL, he aha kaʻu e manaʻo ai?

Inā loaʻa iā ʻoe kēia ʻano maʻi, pono ʻoe e hana i nā hoʻokolohua maʻamau e nānā i nā hōʻailona o kekahi mau maʻi. ʻO ka ʻike mua ʻana a me ka mālama ʻana i nā ʻōpū hiki ke kōkua i ka hōʻemi ʻana i ka hopena o ka maʻi von Hippel-Lindau i kou ola. No laila he mea nui e loaʻa nā hoʻokolohua a kāu kauka e ʻōlelo ai.

Hiki ke pale ʻia ka maʻi VHL?

ʻAʻole, ʻaʻole hiki ke pale ʻia. ʻO kēia no ka mea ua hoʻokumu ʻia ka maʻi von Hippel-Lindau e kahi hoʻololi genetic i hoʻoili ʻia mai kekahi makua a i kekahi. Inā loaʻa i kekahi o kou ʻohana ʻo VHL, hiki i ka hoʻāʻo genetic ke kōkua iā ʻoe e ʻike inā loaʻa iā ʻoe ka mutation.

ʻOiai ʻaʻole hiki iā ʻoe ke pale aku i ka maʻi von Hippel-Lindau, he mea kōkua ia e ʻike i kou pilikia a hoʻomaopopo pehea e hiki ai i ka `(VHL)` ke hoʻopilikia iā ʻoe. Inā ʻike ʻoe ua pilikia ʻoe, hiki i nā kauka ke nānā i nā hōʻailona o nā puʻupuʻu e pili ana i ka `(VHL)` a hana i nā hana e wehe koke iā lākou.

Inā loaʻa iā ʻoe ka gene (VHL) a ke hoʻolālā nei e loaʻa kahi keiki, he manaʻo maikaʻi e hālāwai me kahi kākā'ōlelo genetic e kūkākūkā i ka pilikia o kāu keiki e hoʻoilina i ka gene.

Aia kekahi mau hoʻokolohua loiloi kūikawā no nā kūlana e pili ana i ka VHL?

ʻAʻohe alakaʻi loiloi kikoʻī no kēia, e like me nā ʻano maʻi kanesa ʻē aʻe (e like me ka loiloi maʻi kanesa i ʻōlelo ʻia e ka US Preventive Services Task Force). Eia nō naʻe, inā hōʻoia ka hoʻāʻo genetic he gene VHL ʻē kou, hiki i kāu hui mālama ola ke paipai i kekahi mau hoʻokolohua e kōkua i ka ʻike mua ʻana i nā pilikia. No ka laʻana, hiki iā lākou ke paipai iā ʻoe e hana i kahi scan imaging magnetic resonance abdominal (MRI) i kēlā me kēia ʻelua makahiki e nānā i nā maʻi kanesa e pili ana i ka VHL, e like me ka clear cell renal carcinoma.

Pehea e hiki ai iaʻu ke mālama iaʻu iho? He aha kaʻu e hiki ai ke hana?

ʻO ke ola ʻana me VHL ke ʻano o ka noho ʻana me kekahi kānalua. Inā hoʻoilina ʻoe i ka hoʻololi ʻana o ka genetic e hoʻoulu ai iā VHL, he 50% kou manawa e loaʻa ai ke ʻano. Inā hana ʻoe pēlā, he 97% kou manawa e loaʻa ai kekahi mau ʻano maʻi kanesa a me nā maʻi koʻikoʻi ʻē aʻe.

Eia naʻe, ʻaʻohe mea hiki ke wānana pololei pehea e pili ai ʻo `(VHL)` i kou ola. Eia kekahi mau mea e hiki ke kōkua iā ʻoe e hoʻokele i kēia mau pilikia:

• E kiʻi i ke kākoʻo olakino noʻonoʻo: Ua hōʻike ʻia kekahi noiʻi hiki i ka hōʻoia ʻana o VHL ke loaʻa ka hopena noʻonoʻo, e like me ka hopohopo a me nā hoʻouka kaua panic. No laila, he mea nui loa ke kamaʻilio ʻana me ke kauka psychiatrist a i ʻole ke kākāʻōlelo.
• E mālama i kou olakino holoʻokoʻa: E ʻai i ka meaʻai kaulike - nui nā ʻiʻo momona, nā palaoa piha, nā lau lau, a me nā huaʻai. Hoʻoikaika kino (hiki ke hōʻemi i ke kaumaha). E nīnau i kāu hui lapaʻau e pili ana i nā lāʻau pale i kūpono iā ʻoe.

Āhea wau e ʻimi ai i ke aʻo lapaʻau?

Inā ʻike ʻoe i nā hōʻailona e like me kēia, pono ʻoe e kāhea koke i kāu kauka:

• Nā loli i kou ʻike a i ʻole ka lohe ʻana.
• ʻEha pinepine ka ʻeha.
• Ka luaʻi ʻana a i ʻole ka luaʻi ʻana i manaʻo ʻole ʻia he maʻi ʻē aʻe ia.
• Ka piʻi koke ʻana o ke koko.
• Inā pilikia koke ʻoe i ka hele wāwae, mālama i ke kaulike, a i ʻole ka hoʻonohonoho ʻana i nā neʻe.

He aha nā nīnau e pono iaʻu e nīnau aku i kaʻu kauka?

E noʻonoʻo ua haʻi ʻia iā ʻoe ua loaʻa i kekahi o kou ʻohana ka maʻi von Hippel-Lindau. Inā pēlā, eia kekahi mau nīnau hiki iā ʻoe ke nīnau i kāu kauka:

• He aha ka ʻōlelo a kaʻu mau hopena hoʻokolohua genetic?
• Pono anei ke koena o koʻu ʻohana e hana i nā hoʻāʻo genetic?
• ʻEhia pinepine e pono ai iaʻu e hoʻāʻo ʻia e ʻike i nā hōʻailona mua o nā kūlana e pili ana paha me ka `(VHL)`?

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai (Leka Lawe-Home)

He maʻi hoʻoilina laha ʻole ka maʻi Von Hippel-Lindau (VHL). Hoʻopilikia ia i hoʻokahi i loko o 36,000 poʻe. No laila, ʻo ka ʻike ʻana ʻo ʻoe kekahi o kēlā mau 36,000, hiki ke lilo i mea hoʻohoka nui, ʻoiai inā ʻaʻohe mea o kou ʻohana i loaʻa i ka maʻi ma mua.

Inā hōʻoia ka hoʻāʻo ʻana i ka genetic ua loaʻa iā ʻoe (VHL), e hāʻawi iā ʻoe iho i kahi manawa e hoʻoponopono ai i ka nūhou. A laila, e hoʻokaʻawale i ka manawa e hoʻomaopopo ai i ke ʻano o kāu hōʻailona. No ka laʻana, he mau nīnau paha kāu e pili ana i kou pilikia o ka hoʻomohala ʻana i nā ʻano maʻi kanesa a me nā puʻupuʻu like ʻole, a pehea e pili ai kāu hōʻailona i nā poʻe ʻē aʻe o kou ʻohana. Mai kānalua e nīnau i kāu hui lapaʻau e pili ana i ka mea e manaʻo ai. A mai poina e noi i ke kōkua e hoʻokele i ke kaumaha e hele mai me ka noho ʻana me (VHL). ʻAʻole ʻoe hoʻokahi, a he nui ka poʻe e hiki ke kōkua iā ʻoe ma kēia huakaʻi.

ʻO Von Hippel-Lindau, VHL, maʻi hoʻoilina, maʻi kanesa, nā puʻupuʻu, nā hōʻailona, ​​​​​​lāʻau lapaʻau