ʻO ka maʻi o Recklinghausen i kapa ʻia ʻo neurofibromatosis type I.

ʻO ka huaʻōlelo "neurofibromatosis" e pili ana i kekahi mau maʻi genetic e pili ana i ka hoʻomohala ʻana o ke kelepona o nā ʻiʻo neuronal. ʻElua ʻano neurofibromatosis: ʻano I a me ke ʻano II. ʻO kēia mau ʻano ʻelua, he ʻano like ko lākou a ua hoʻokumu ʻia e ka hoʻololi ʻana i nā genes like ʻole.

ʻO ke ʻano I neurofibromatosis he neurodermal dysplasia, kahi mea ʻino i ka hoʻomohala ʻana o ka ʻiʻo neuronal. Ua wehewehe mua ʻia kēia ʻano maʻi i ka makahiki 1882 e Friederich Daniel Von Recklinghausen, no laila ka inoa o kēia ʻano maʻi.

ʻIke ʻia nā hoʻololi ʻana i ka ʻiʻo neuronal mai ka ulu ʻana o ka embryonic.

ʻO keʻano I neurofibromatosis keʻano maʻamau o ka neurofibromatosis me 90% o nā hihia heʻano I. ʻO ia kekahi o nā maʻi maʻamau o ke kanaka me ka prevalence (ka helu o nā hihia i loko o ka heluna kanaka, i ka manawa i hāʻawiʻia) i ka 1 / 3 hānau. Eia kekahi, ʻaʻohe mea i ʻike ʻia ma waena o nā kāne a me nā wahine. (000)

ʻO ka maʻi o Recklinghausen he maʻi hoʻoilina i hoʻoili ʻia ma ke ʻano o ka lawe ʻana he autosomal dominant. A i ʻole, e pili ana i kahi chromosome non-sexual a no laila ke kū ʻana o hoʻokahi wale nō o nā kope ʻelua o ka gene mutated i lawa no ke kumuhana e hoʻomohala i ka maʻi. ʻO kēia maʻi ka hopena o nā hoʻololi i ka gene NF1 aia ma ka chromosome 17q11.2.

Ua wehewehe ʻia nā ʻano o ka maʻi ma o: (2)

- nā pihi kala "café-au-lait";

- nā optic gliomas (nā ʻōpū ma ke kiʻekiʻe o nā aʻa aʻalolo ocular);

- Lish nodules (hematomas pigmenting i ka iris o nā maka);

- nā neurofibromas o ke kuamoʻo a me nā aʻalolo peripheral;

- ka pilikia neurological a me / a i ʻole cognitive;

- scoliosis;

- nā mea ʻino o ka helehelena;

- nā maʻi maʻi ʻino o ka pū aʻalolo;

- pheochromocytoma (ka maʻi maʻi maʻi i loko o nā puʻupaʻa);

- nā ʻeha iwi.

Hoʻopilikia ka maʻi o Recklinghausen i ka ʻili a me ka ʻōnaehana kikowaena a me ke ʻano. ʻIke pinepine ʻia nā hōʻailona pili mua i ka wā kamaliʻi a pili paha i ka ʻili penei: (4)

– “café au lait” wahi ili kala, okoa ka nui, okoa kona ano a hiki ke loaa ma kela a me keia pae o ke kino;

- ka ulu ʻana o nā freckles ma lalo o nā lima a me nā ʻāʻī;

- ka ulu ʻana o nā maʻi koko i loko o nā aʻalolo peripheral;

- ka ulu ʻana o nā maʻi maʻi i loko o ka pūnaewele nerve.

ʻO nā hōʻailona ʻē aʻe a me nā hōʻailona hiki ke lilo i mea koʻikoʻi o ka maʻi, penei:

- Lish nodules: ulu e pili ana i nā maka;

– he Pheochromocytoma: he ma'i ma'i 'o ka 'a'ai ma'i, he 'umi pākēneka o ia mau ma'i 'a'ai ma'i 'a'ai;

- ka hoʻonui ʻana o ke ake;

– he glioma: ʻaʻa o ke aʻalolo optic.

ʻO ka hopena o ka maʻi i ka ulu ʻana o ka iwi, ʻo ia ka hana pōkole, ka iwi deformations, a me ka scoliosis. (4)

ʻO ka maʻi o Recklinghausen kahi maʻi hoʻoilina o ke ʻano autosomal dominant. A i ʻole e pili ana i kahi chromosome non-sexual a no laila ke kū ʻana o hoʻokahi wale nō o nā kope ʻelua o ka gene mutated i lawa no ka ulu ʻana o ka maʻi.

Hoʻokumu ʻia ka maʻi ma muli o kekahi mau hoʻololi ʻana i ka gene NF1, aia ma ka chromosome 17q11.2. ʻO ia kekahi o nā hoʻololi maʻamau maʻamau i waena o nā maʻi genetic a pau o ke kanaka.

ʻO 50% wale nō o nā poʻe maʻi me ka gene NF1 i hoʻololi ʻia he moʻolelo ʻohana o ka lawe ʻana i ka maʻi. ʻO ka ʻāpana ʻē aʻe o ka poʻe maʻi e pili ana i nā hoʻololi ʻokoʻa i kēia gene.

ʻO ka hōʻike ʻana o ka maʻi e loli nui mai kekahi kanaka a i kekahi me kahi papa o nā hōʻike lapaʻau e hiki ke hele mai ka maʻi ʻeha a ʻoi aku ka paʻakikī. (2)

ʻO nā kumu pilikia no ka hoʻomohala ʻana i ka maʻi he genetic.

ʻOiaʻiʻo, lawe ʻia ka maʻi ma o ka hoʻololi ʻana o ka gene NF1 mutated e like me ke ʻano autosomal dominant.

ʻO ka mutation i nīnau ʻia e pili ana i kahi gene i loaʻa ma kahi chromosome non-sexual. Eia kekahi, ʻo ka loaʻa ʻana o hoʻokahi wale nō o nā kope ʻelua o ka gene mutated ua lawa ia no ka ulu ʻana o ka maʻi. Ma kēia ʻano, ʻo kahi kanaka i loaʻa i kekahi o kona mau mākua ka phenotype o ka maʻi he 50% ka pilikia o ka hoʻomohala ʻana i ka pathology iā ia iho.

ʻO ka hōʻailona o ka maʻi ka mea mua o nā ʻokoʻa like ʻole, ʻoi aku ka pili ʻana i ke alo o kekahi mau hōʻailona ʻano. ʻO ka pahuhopu nui o ke kauka, ʻo ia ke kāpae ʻana i nā mea hiki ke loaʻa i nā maʻi ʻē aʻe i pili i kēia mau hōʻike lapaʻau.

ʻO kēia mau maʻi, ʻo nā hōʻailona e like me ka maʻi o Recklinghausen, penei:

– Leopard Syndrome: he maʻi genetic nona nā hōʻailona e uhi pū ana i nā kiko ʻulaʻula ma ka ʻili, kahi ākea ākea ma waena o nā maka, ʻokiʻoki o ke aʻa coronary, nalo ka lohe, kahi kūkulu liʻiliʻi a me nā mea ʻino i nā hōʻailona uila o ka puʻuwai;

- neurocutaneous melanoma: he maʻi genetic e hoʻomohala ana i nā pūnana maʻi ma ka lolo a me ke kuamoʻo;

- schwannomatosis, he maʻi kakaʻikahi e ulu ana i nā maʻi koko i loko o ka ʻiʻo nerve;

- ʻO Watson's Syndrome: he maʻi genetic e alakaʻi ana i ka hoʻomohala ʻana o nā nodules o Lish, kahi hale liʻiliʻi, neurofibromas, kahi poʻo nui ʻano ʻole a me ka hōʻemi ʻana o ke aʻa pulmonary.

ʻO nā hoʻokolohua hou aʻe e hiki ai ke hōʻoia i ka maʻi a ʻaʻole paha, ʻo ia ka hihia o MRI (Magnetic Resonance Imaging) a i ʻole ka scanner. (4)

I loko o ka pōʻaiapili o ka maʻi paʻakikī, pono e lawelawe ʻia kona mālama ʻana i nā ʻāpana like ʻole o ke kino e pili ana.

ʻO nā lāʻau lapaʻau i kuhikuhi ʻia i ka wā kamaliʻi:

- ka loiloi i nā hiki ke aʻo;

- ka loiloi o ka hyperactivity hiki;

- ka mālama ʻana i ka scoliosis a me nā deformities ʻē aʻe.

Hiki ke mālama ʻia nā ʻōpū e: (4)

- ka wehe ʻana o ka laparoscopic i nā maʻi kanesa;

- ʻokiʻoki no ka wehe ʻana i nā ʻōpū e pili ana i nā aʻalolo;

- radiotherapy;

- ka lāʻau lapaʻau.