ʻO ka maʻi ʻo Hirschsprung (HSCR) ʻike ʻia e ka maʻi lōlō i ka hapa nui o ka ʻōpū nui.

Kuhi ʻia kēia pathology mai ka hānau ʻana a ʻo ka hopena o ka loaʻa ʻole o nā ganglia nerve (nā pūnaewele e hana ana i kahi puʻupuʻu ma ke ala o ke aʻalolo) i ka paia o ka ʻōpū.

ʻO ka ale ʻana i ka meaʻai ma o ka digestive tract a hiki i ka excreted ʻana, ma ka hapa nui, hiki ke hoʻomaikaʻi i ka peristalsis ʻōpū. ʻO kēia peristalsis kahi o nā contractiontion o nāʻiʻo ʻōpū e ʻae ana i ka mua o ka bolus meaʻai ma ke kahe digestive.

I kēia kūlana kahi i loaʻa ʻole o nā ganglia nerve i loko o ka ʻōpū nui, ʻaʻole hāʻawi ʻia nā peristalsis e ke kino. I kēia ʻano, hana ʻia kahi dilation o ka ʻōpū a me ka hoʻonui ʻana i kāna nui.

ʻOi aku ka nui o nā ʻōuli i pili inā nui ka ʻāpana o ka nerve ganglia. (1)

No laila ua wehewehe ʻia kēia maʻi e nā ʻōpū ʻōpū atypical: keakea i ka ʻōpū. He blockage o ke kaʻa a me ke kinoea e alakaʻi ai i ka ʻeha o ka ʻōpū, colic (ʻōpū ʻōpū), nausea, bloating, etc.

Hoʻopili ka HSCR ma kahi o 1 i 5 mau hānau i kēlā me kēia makahiki. ʻO ke ʻano e pili ana i ka ʻāpana hapa o ke kolona (ʻōpū nui) pili nui i nā keikikāne. (000) Kūpono nā kaikamahine i ka ulu ʻana o kēia maʻi ma kahi ākea ākea. (2)

Hoʻololi kēia pathology i nā pēpē a me nā keiki ʻōpio. (3)

Ua hōʻike ʻia kekahi ʻano o ka maʻi (2):

- ke kinona "kilakila", a i kapa ʻia paha "ke ʻano o ka ʻāpana pōkole". Kūleʻa pinepine kēia palapala i nā mea maʻi me kēia pathology, a 80%. Hoʻopili kēia ʻano maʻi i ka ʻāpana hapa o ke kolona i ka ʻāpana ʻoi.

 - ke ʻano "mahele lōʻihi", e hoʻonui ana i ke kolamu sigmoid, pili i ka 15% o nā mea maʻi;

- ka palapala "colic total", e hoʻopili ana i ke kolona ma ke ʻano holoʻokoʻa, e pili ana i 5% o nā maʻi.

Hoʻopili ʻia ka transit Intestinal e ka ʻōnaehana hopohopo. No laila aia nā ganglia nerve i loko o ka ʻōpū e ʻae ana i ka lawe ʻana o ka ʻike mai ka lolo no ka kaohi o ka peristalsis ʻōpū a pēlā ka holomua o nā meaʻai ma ka ʻaoʻao digestive.

ʻO ka loaʻa ʻole o kēia mau kiko, i ka hihia o ka maʻi ʻo Hirschsprung, pale i ka lawe ʻana i ka ʻike a pēlā e pale ai i nā peristalsis ʻōpū. ʻAʻole hiki i ka meaʻai ke hele hou i loko o nā ʻōpū a hoʻopau i ka palaka ʻia i ka digestive tract.

ʻO nā ʻōuli o kēia maʻi ʻike pinepine ʻia i ka wā hānau. Eia nō naʻe, i kekahi mau hihia, hiki iā lākou ke hōʻike ma hope o hoʻokahi a ʻelua mau makahiki paha. (3)

ʻO nā ʻōuli e pili ana i nā keiki hānau a me nā keiki ke ʻano nui:

- nā pilikia transit;

- hiki ʻole ke kipaku aku i ka meconium (excrement mua o ke keiki hānau) i nā hola he 48 i hala;

- ka paʻa paʻa;

- jaundice;

- ka luaʻi;

- pākī;

- abdominal eha;

- undernourishment.

ʻO nā ʻōuli e pili ana i nā keiki nui nā:

- ka paʻa paʻa paʻa paʻa ʻana me nā pilikia (hiki ʻole ke ulu i ke kiʻekiʻe a me ke kaumaha);

- meaʻai maikaʻi ʻole;

- ka opu o ka opu;

- he kuni.

Hiki i ke keiki ke hoʻomohala i nā maʻi ʻōpū, e like me enterocolitis.

ʻIke ʻia kekahi mau mea ʻē aʻe: ka nalowale ʻana o ka lohe sensorineural (Waardenburg-Shah maʻi), ke kīnā ʻole o ka noʻonoʻo (Mowat-Wilson syndrome), hypoventilation waena alveolar (Haddad Syndrome), nā mea kūpono ʻole o ka lālā (Bardet-Syndrome) Biedl), ka maʻi ʻaʻai thyroid medullary (endocrine maha. neoplasia ʻano 2B) a i ʻole nā ​​chromosomal abnormalities (Down Syndrome). (2)

Hoʻokumu ʻia ka maʻi ʻo Hirschsprung e kahi kino ʻole i ka hoʻomohala ʻana i ka ʻōnaehana nūhou enteric. He aganglionosis ia, ʻo ia hoʻi ka loaʻa ʻole o nā ganglia nerve (i kapa ʻia ʻo "Cajal cells") i loko o nā ʻōpū. Aia kēia hemahema lymph node deficit i ka hapa nui o ka ʻōpū nui (kolona).

I ke kumuhana e hoʻopili ʻia e kēia pathology, noho kēia ʻāpana o ka ʻōpū i kahi ʻano tonic a paʻa mau. ʻO kēia kūlana ke alakaʻi i ka ālai ʻana o ka ʻōpū. (2)

Ua hoʻopili ʻia nā mea ʻelua a me nā mea pili i ka ulu ʻana o ka maʻi ʻo Hirschsprung. (2)

ʻOiai, ua hōʻike ʻia kekahi mau gen i ka hoʻomohala ʻana o kēia pathogenesis. He maʻi polygenetic ia e pili ana i nā genes:

- Proco-oncogene ret (RET);

- ka genial factor neutrotrophic factor i loaʻa mai (GDNF);

- ke ʻano B endothelin receptor gene (EDNRB);

- ka endothelin 3 gene (EDN3);

- ka gen no ka endothelin 1 hoʻololi i ka enzyme 1 (ECE1);

- ka moʻokūʻauhau no ka mole lōkō liki (L1CAM).

E like me ka mea i ʻōlelo ʻia ma mua, ʻo ka maʻi ʻo Hirschsprung ka hopena o ka loaʻa ʻole o nā ganglia nerve i loko o ka ʻōpū nui a hiki i ka anus, e pale ana i nā peristalsis ʻōpū a no laila ka piʻi ʻana o ka meaʻai i kēia pae.

ʻO kēia deficit o nā pūnaewele Cajal (nerve ganglia) ka hopena o kahi deficit i ka ulu ʻana o kēia mau huna i ka ulu ʻana o ka fetal. ʻAʻole i ʻike ʻia nā kumu o kēia ulu ʻole o ka cell ma mua o ka hānau ʻana. Eia naʻe, ʻo ka hiki i kahi pilina ma waena o ke olakino olakino o ka makuahine i kona wā hāpai a me ka ʻole o kēia ʻano o nā hunaola i loko o ka pēpē.

Ua hōʻike ʻia nā gen he nui i ka ulu ʻana o ka maʻi. Hiki ke hele pinepine o kēia mau gen i loko o ka ʻohana like. A laila kahi ʻāpana o ka hoʻoilina ma ke kumu o ka ulu ʻana o kēia maʻi.

Hoʻohui ʻia, hiki i kekahi mau pathologies ke lilo i mea nui aʻe e pili ana i ka ulu ʻana o ka maʻi ʻo Hirschsprung. ʻO kēia ka hihia me Down's Syndrome. (3)

Hana ʻia ka diagnose ʻokoʻa e like me nā ʻōuli ʻano o ka maʻi i hōʻike ʻia e ke kumuhana: kaohi ʻana o ka ʻōpū, stenosis anorectal, nā pelvic tumors, a pēlā aku. (2)

ʻO ka hōʻailona e pili pinepine ʻia me ka maʻi i hana ʻia ma o kahi biopsy rectal. Hōʻike kēia biopsy i ke alo a i ʻole ʻole o nā ganglia nerve i loko o ka ʻōpū nui. Hoʻohui ʻia, kahi overexpression o acetylcholine esterase (enzyme e ʻae ana i ka acetylcholine e hydrolyzed i loko o ka acetic acid a me choline). (2)

Hiki ke hana ʻia kahi barium enema (X-ray e nānā i ka ʻōpū nui) i ke kuhi o kēia pathology. Hiki i kēia ala ke ʻike i kahi wahi kuewa o ka nalo ʻana o nā hunaola nerve, e hōʻike ana i ka ulu ʻana o ka maʻi o Hischsprung. Eia naʻe, ʻaʻole pono kēia ʻano hana diagnostic i 100% hilinaʻi. ʻOiai, 10 a 15% o nā hihia o ka maʻi Hirschsprung ʻaʻole e ʻike ʻia ma hope o kēia hoʻāʻo diagnostics. (4)

ʻO ka lapaʻau koʻikoʻi no ka maʻi ka ʻoki kino. Hāʻawi ia i ka hoʻopau ʻana i ka ʻāpana o ka ʻōpū i lawa ʻole o nā hunaola nerve. (4)

I ke kumu o ka hōʻino holoʻokoʻa i ke kolona, ​​pono paha kahi transplant colon. (2)

Ma hope o kēia, hiki ke hoʻokō ʻia kahi ostomy (ʻenehana ʻoki lāʻau e ʻae ai i ka pilina ma waena o ʻelua mau mea) i mea e hoʻohui ai i ka ʻāpana o ka ʻōpū me ka anus a i ʻole ka ʻaoʻao luna o ka ʻōpū. Hiki ke paʻa a kūmau paha kēia stoma ma muli o ka hihia. (4)

Kōkua ke ʻoki kino i ka hōʻemi ʻana i nā ʻōuli e pili ana i ka maʻi. Eia naʻe, ʻaʻole i piha ka wānana a hiki i nā ʻōpikipiki hōʻeha ke hele a make.