He aniani maʻi: mea, lalau mai, photo, ola expectancy

He aniani maʻi mea he pohihihi keia aaiaoe pathologies ma a he mau haunaele i loko o ka 'ole a me ka hoʻomohala o musculoskeletal'ōnaehana, a hiki aku i ka kiʻekiʻe fragility o ka iwi. Ma lapaau, i kēia maʻi i kapa osteogenesis imperfecta. He aha ka i kēia maʻi? He aha nō i nā hōʻailona a me nā symptoms o ka maʻi, ka nohoʻana i loaʻa? E ka ho'āʻo e pane i kēia mau nīnau a pau.

He aha ka osteogenesis imperfecta?

He aniani iwi maʻi - he hereditary maʻi. Ma keia maʻi, iwi nā'aʻaʻa lilo loa fragile, ma muli o ia a he kanaka hoomanawanui fractures pinepine ana, i ala mai ma ka iki hopena, a hiki i ka wa e kaawale aku o kekahi trauma. Nā mea maʻi i kēiaʻike pinepine e hoailona oukou'ē aʻe pathological hoike ana i loko o ka palapala o:

• Muscle atrophy;
• kahua niho abnormalities;
• hypermobility o na ami;
• i loko o ka palapala o ka holumua ai hālāwai hoʻolohe manaʻo lilo;
• iwi deformation.

Kekahi mau kumu osteogenesis imperfecta maʻi loaʻa paha kekahi mau inoa:

• fetal rickets;
• osteomalacia innate;
• Lobstein ka maʻi;
• periosteal dystrophy;
• brittle iwi, a me ka aniani mai.

i i loko iho kumu o kēia maʻi i loko o ka loli aaiaoe e alakai ai i ka hoʻohuikau o ka iwi ho okumu. Ma kānaka, he Generalized osteoporosis, a me na iwi e brittle.

Ka maʻi He 'ano pohihihi. Wahi a ka 'ikepili helu, ka mea, ua loaʻa i loko o 1 keiki mai 10-20 tausani keiki hanau. I ka maʻi ua noʻonoʻo maʻi,ʻoiai i loko o ke kālā no lapaau, he nui na aoao e hoʻoikaika 'i ke ahonui o ka kulana, a e ola maʻalahi no nā keiki me ka aaiaoe maʻi.

No ke aha lā i loaʻa mai

Kauka i aku nei au i ka papa kuhikuhiE kumu elua o ka maʻi.

1. Na iwi o ka'ōewe mutations i hoʻomaka ai, i mea no ke aha la he mea he nele o ka kumuʻiʻo collagen, i mea ka connective'aʻaʻa. I ka 5% o ka hihia i keʻano o ka'āina hoʻoili o ka maʻi o autosomal Hoʻohaku a me ka autosomal recessive.
2. Ke Alahele maʻi i noho'na makaainana i ulu mutations. I ka nui o ka collagen ma keia hihia mea pololei, akā, ke kumuʻiʻo hoʻololi kemikala he mea he loli i loko o kona 'ole. Iwi ke ulu maʻamau, akā, ma laila nō ka haunaele o ka ossification'aʻaʻa, hoemiia ÿano waiwai, he mea kā lākou fragility.

Maʻi "he aniani iwi" mea he aaiaoe pathology, no laila, i loko o ka hapanui o na hihia ia ia lŘlŘ i na keiki, o kona poe hoahanau, i ka ia maʻi. Akā, he mea pohihihi keia lapa kāne ai, i ka wa a ke keiki hōʻike nō ia o osteogenesis imperfecta, oiai na makua i loa ola. Keʻano o kēia pathology ua pili i ka hanana o ka noho'na makaainana i ulu mutations.

He nui na ano o ka maʻi i i wehewehe aku e likeʻole symptoms a me ka ulu o ka iwi 'ole. A piha nānā i kēlā me kēia kahua o ka maʻi.

nawaliwali palapala

About 50% o nā mea maʻi me ka osteogenesis imperfecta i keʻano mua o keia maʻi. He aniani la i ka maʻi i loko o nā keiki (Hawaii photo i loko o ka 'atikala) ua pu ma pinepine fractures, akā, no ka pilikia o ka hewa i ka iwi'aʻaʻa ua hoemi i mea e holo i ka makahiki o ka 10. People no 40 makahiki e e akahele, e like me ka make māinoino o ka iwi fragility maoli he hou.

Me ka nawaliwali ano o ka maʻi pinepine malama kahe ana ke koko o ka nasal lua, keia mea aie i kekahi loli ma ka aorta.

Perinatal-lethal ano

Ma ka hapanui o na hihia, i ka lua o ka 'ano o ka osteogenesis imperfecta hiki aku ai a hiki i ka make ana o ke keiki i loko o ka opu. Ka maʻi hiki i premature hanau ma na kahua o ka hoʻonaʻauao kakahiaka o ka gestation.

Kēia palapala no ka maʻi ua maheleia i ekolu pūʻulu, kela mea keia mea o ka i ua wehewehe aku ma kekahi mau 'ano:

• Ka mua pūʻulu (A). Ka iwi poʻo iwi i poino, a hiki i loko o ka opu, a hiki ke nānā 'ia e hele i ka hapai wahine i ultrasound. Ke keiki makemake e hanau i keia pathology o ka ulu ana o ole oi aku 20-30 knm. Ka lolo hope a me ka ha nenoaiu ka mea i haki. Me keiaʻike, na keiki i stillborn a noho wale i kekahi mau lā. hihia i ua kākau ka wā i make ai ka "aniani" keiki i ka mahina ma hope o ka hanau ana. Ke kumu o ka make, ua mau fractures.
• Ka lua o ka pūʻulu (B). Na hoailona o ka maʻi i like i ka hoike ana mai o ka papa (A), akā, i ka ÷ naehana hanu'ōnaehana ua hana pono 'ole i ka nīnūnē haiahū kūmau. Nā mea maʻi a pau o ka omo iwi i pōkole, no laila, eia kahi mea akaka aniani maʻi. Life expectancy - he makahiki kakaikahi ma hope o ka hanau ana.
• Ke kolu o ka pūʻulu (B) - ia lŘlŘ ma pohihihi keia hihia. Fetus a make i loko o ka'ōpū a me nā pēpē i make i loko o kekahi mau lā ma hope o ka hanau ana. Ka iwi poʻo ua i ke kino a me ka mai ole ossification, omo iwi thinning.

Ulu o ka iwi wāwahiʻia

Ke kolu oʻano i ke ano hiʻona - ka ulu o ka iwi i uhaiia. Kēiaʻano o ka maʻi o loa pohihihi keia. I loko nō o ka mea i keiki uuku ke kino o Iesu, kona kaumaha ke hoʻopili like i ke kūmau. Ma nā mea maʻi me ka osteogenesis imperfecta i kēia 'ano e pinepine diagnose pilikia me ka circulatory nenoaiu. Kēia pilikia i ke kumu o ka make. Ma na kamalii uuku a me'āno'ē ulu o ka iwi fractures pinepine hana ana i hānau.

ulu skeletal ua wāwahiʻia

A hiki i ka ha o ka 'ano o ka maʻi, he nui ka haunaele ma ka ulu a me ka' ole o ka iwi. No kekahi mau makahiki, i ka hoʻomanawanui i nā iwi i hana callus, a ua hoemiia ka pilikia o ka fracture. Ma ka makahiki 30 o ka hoʻomanawanui i ka mahina lohe me keia poho.

E kuhikuhi i ke 'ano o ka mai, a me ka pae e pono ai e hele ma ka pau huahelu o PalekanaEND_LINK ana. Pana aku au i nā kaʻina hana a pau i hiki aku i ke keiki i hanauia mai.

ki ina hana like o kaʻike,

He aniani maʻi (kiʻi i hōʻike mai iā ia i loko o ka 'atikala) hiki ke diagnosed ma ka fetus i loko o ka opu. E aʻo e pili ana i ka na pathology i ia i ke alaʻololī o ke ultrasound. Inā he mea e hoʻohuoiʻia no paewaewa ma ka hoʻololi kemikala o collagen, koi hou study. E hana i kēia, hapai na wahine e lawe ma luna o ka Ikepili o amniotic loli a me ka epithelial'aʻaʻa.

A hiki i ka pēpē i hanau, ia mea pono e hoʻomaka i ka hulina ninaninau, a me kēia mau:

• iwi biopsy;
• ka X-Ray e huai ae fractures;
• densitometry (like o ka mea pōhaku haku mele 'ana o ka iwi lua);
• he koko ho'āʻo e huai ae loli i loko o ka DNA;
• collagenʻike;
• he biopsy o na epidermis.

Ka loaa hualoaʻa ae lapaau, e koho i ka hoʻokō pākōlea regimen.

Pehea o ka maʻi "he aniani iwi"?

Osteogenesis imperfecta ua manaoia e e ka maʻi hiki, akā, me ka hiki alleviate i ka hoʻomanawanui ka ana a me ka hooikaika i kona skeletal'ōnaehana i ke kōkua o ka hoʻokō Inc.

Ma ka papa o ka iapaau ana e ke komo pu:

• makanekiuma a me ka potasiuma paʻakai;
• kalipuna;
• wikamina D a me ka 'ē aʻe ka mahuaola.

? Aeiiaiaiaaia e hana me ka Inc a me ka physiotherapy.

I nā mākua o ke keiki a me na abnormalities e undergo psychotherapy, kahi e wehewehe pehea e pono lńkou i ke keiki, a hakuloli ia i ka nohona kaiāulu. Kēia e ae i kāu keiki e aʻo i loko o ka wā e hiki mai, e pale aku pilikia wahi, i hiki ai ke kiʻekiʻe pilikia o ka fracture.

Ka hooulu ana o ia i ka maʻi hiki ole ke Hāʻule maila lākou. Akā, ua loaʻa he holomua ano o ka lapaʻau, ka hahai a oe e hoʻoikaika i ke ola o kāu keiki. Keiki, ka poe i ka maʻi 'akomi i aniani, mai i abnormalities i loko o ka noʻonoʻo a me ka manaʻoʻike kūpono' ana, no laila, ka mea hiki ke hoʻomaopopo i loko o ke ola, ka mea, i ke kumukuai o ka mea pono, e kōkua.