He aha ka ka Alport maʻi pale?

Alport maʻi pale mea he hereditary maʻi, a ua wehewehe aku ma ka mea i hahai ana ka mea mamuli o kekahi kauoha ka ho'ēmiʻana o kaʻaʻa puʻuwai hana a me ka lohe kāna hana a hiki hihio. I keia manawa, ma ka'āina i kēiaʻano o ka maʻi i waena o na keiki (ka hapanui) he contingent o ma kahi o 17: 100 000.

Ke kumu nui

E like me ka poe akamai, Alport maʻi pale ua kena ae la ma muli o ia abnormalities ma ka'ōewe, i ua aia i loko o ka lima lōʻihi o ka X chromosome i loko o ka ai-kapaia 21-22q ciia. Eia hou kekahi, 'aʻe' ana i laila,-kapaia integral 'ole o ka collagen type 4 o kekahi i ke kumu o ka maʻi. Ma lalo o collagen ua maopopo i loko o ka 'epekema o ia ke kumuʻiʻo a mea he pono ke keʻena o connective'aʻaʻa i hoʻolako elasticity a me ka hoʻomauʻana.

symptoms

Alport maʻi pale mea IeAUPIIe, IAa IO muaʻo ia ia iho i manao ai i na keiki kanaka kahiko, mai ka elima a hiki i ka umi makahiki, a ua hoikeia mai ma ka palapala o ka hematuria (koko i loko o ka mimi, e loaʻa). Loa pinepine, ua loaʻa i kēiaʻike, ma moʻolelo kaulele, i mea, ma ka ia ninaninau ma ka hoʻomalu. Eia kekahi, Alport maʻi pale hoike mai ai ia ia iho e like me ka ai-kapaia dizembriogeneza stigmas. He He kŘpa a nīnūnē deviations i mai i pāʻani i ke kūlana kūikawā ma ka functioning o ka papa kuhikuhiE nenoai o ke kino. Kauka nei epikant (liʻiliʻi crease ma ka pahale kihi o ka maka), lani kiʻekiʻe, he hōʻemi iki deformation o nā pepeiao, a 'ē aʻe symptoms. Pahuhopu nei lohe poho Ua hoi heʻoiaʻiʻo hoailona o ka maʻi, a ua diagnosed hou pinepine lohe poho i loko o nā keikikāne. A pau o ka mea ma luna symptoms pinepine hōʻike mai i loko o adolescence, oiai, he pono ole maʻi ʻaʻa puʻuwai hoʻokō 'ole' oukou e hoonoho ia iho, i manao ai wale i adulthood.

diagnosing

Alport maʻi pale i na keiki ua ana diagnosed ma muli o ke alo o keia ano keia ano o ka maʻiʻikepili i loko o nā 'ohana. No ka laʻana, e hōʻoia i ka maʻi lawa'ālike ekolu o nā ana hoʻohālike elima ma lalo iho:

• lohe poho;
• make nei na hihia o ka maʻiʻaʻa puʻuwai ole hoahanau;
• e hooiaio ai o hematuria i loko o ka 'ohana;
• maka pathology;
• imua o ka hana i ho'ākāka 'loli i nā konāhua biopsy.

lapaʻau

I ka wa e kaawale aku o kekahi lapaʻau, kauka mua pono e 'ūlōlohi i ka Holomua o ka hakuʻala ole. Me keiaʻike, me Alport ka maʻi, nā keiki i pololei i papaia hoounauna, ka mea prescribes he 'O ke kaulikeʻai. Great noonoo ua uku ai i ka ai-i kapaia hoʻopulapula o infectious foci. E ho ohana i ka lapaau ana o cytostatics a me kela hormonal ai 'paipai' ia ka hou. Eia naʻe, ka hapanui pinepine ia i ka hakuʻala transplant like preferential lapaau. It E e hoʻomaopopo i ka ka loaʻaʻana o ka haematuria me ka lula hoʻomalu hālāwai hoʻolohe poho ma mau mea i kekahi mau mea hou 'ano papa o ka maʻi prognosis. Ma ke kahua o keia ano keia ano o kaʻaʻa puʻuwai ole ua diagnosed loa kākaʻikahi.