Hurler ka maʻi pale: 'ehaʻeha ka, lapaau a me Picture

Mucopolysaccharidosis - ka inoa, he pono ole o ka helu o ka pohihihi keia maʻi i mea aaiaoe i kumu. Pathology e hoʻomōhala ana i aie i ka pōʻino 'ana i loko o ke kino o kekahi nā'ūhū e kōkua hoʻohiolo nō ia i ka momona, a me nā carbohydrates i loko o na mea nā lātoma. He 'atikala discusses mucopolysaccharidosis kikokiko i 1 - Hurler maʻi pale.

kumu

I ka maʻi ua ili ma ka autosomal recessive ano. Ua hoʻomōhala i ka manawa i anomalies o mucopolysaccharides launa like.

pathogenesis

Mucopolysaccharidosis pili i ka ai-kapaia lysosomal pūnaewele maʻi. E like me ka hopena o ka deficiency o ka lysosomal nā'ūhū mea paakiki catabolism o glycosaminoglycans. Lakou loaa ma na nā'aʻaʻa a me nā loko, disrupting i ke kino a me kona 'oihana. Ma ka wahi mua ma laila mea i ka iwi o ka make, a hoolohi physical? Acaeoey.

Mawaho na hoailona a me symptoms

Symptoms o ka maʻi i hoikeia ma ka palapala o ka iwi mā, connective, cartilaginous nā'aʻaʻa. Na ka papa kuhikuhiE hiʻona - ulu retardation. Kēia symptom hiki ke 'akomi i mua o ka mea e ae, i hookuu ma ka pauʻana o ka makahiki mua o ke ola, ka mea i ike i ua stunted i ke keiki.

Mucopolysaccharidosis i hiki e lawe, no ka lohi loa lehalehu t hiʻona. Ma nā mea maʻi me ka nui elelo, gipertelozirm (nui mamao ma waena o ka hui kaulua nā loko, i loko o kēia hihia ma waena o nā maka), ino pepeiao, lae, pio, uma niho.

Symptoms nā mucopolysaccharidosis thorax deformation, kaheaia kyphosis o ka thoracolumbar spine. Ma ka hoʻokō 'm-kukuna hiki ke' akomi i premature ossification occipito-parietal suture ossification kāna hana ole nuclei.

Ma ka hapanui o na hihia, ka maʻi ua pu e kaupalena 'ka hoʻoneʻe o na ami, abdominal hernias, hepatosplenomegaly (hoʻonui o ke ake, a spleen ma muli o ka pathological keʻano o ka hanaʻana i ka hana me ka hopena o ka maʻi).

Ma ka hapa o Neurology ia Hawaii retardation a me ka hypotonia. No hoi, ka wā he mea he mea hoʻonāwaliwali maoli nō o mucopolysaccharidosis lohe a me ka emi o ke akamai a loa dementia. Ma muli o ia na nā loko i lalo e holumua ai systemic skeletal lesions i ka haunaele i ka loli iki ana degere.

ano o mucopolysaccharidosis

He nui na ano o ka maʻi i OAOOUIEeE oolea o ka iwi loli a me kāna hana o ka psyche:

• I - Hurler maʻi pale.
• II - Gunter maʻi pale (Hunter).
• III - Sanfilippo maʻi pale.
• IV - Morquio maʻi pale.
• VI - Maroto maʻi pale - Lamy.
• VII - Sly maʻi pale.

Ka mahele i loko o ka 'inikua hana o kekahi mau aina e oko. Iʻano V ana kaʻawale Scheie maʻi pale. Ke kaiaulu 'Amelika mea maʻi mukopolisaridozami puunaueia ma ka oolea o symptoms o ke' ano mua, a ma laila nō ekolu phenotypes: Hurler maʻi pale, Scheie maʻi pale, a me ka waena ma waena o Hurler maʻi pale - Sheye (a me Hurler hardest, Sheye - ka easiest).

Hurler maʻi pale

Keia palapala ia lŘlŘ oi pinepine ma mua o na mea e ae, a ua hōʻike mua 'ē aʻe syndromes. Eia hou, i ka lapaʻau kiʻi o ka loa a me ka lei typical o nā ano o mucopolysaccharidosis.

Hurler ka maʻi pale ua kena ae la ia e ka autosomal recessive hooilina. Kēiaʻano o ka maʻi ua wehewehe aku ma ka loa kokololio holomua. I loko nō o ka mea i keʻano mua mea i 'ano like me ka lua o ka mucopolysaccharidosis (Gunther, a Hunter), o ka luna' maʻi. No ka mea manawa mua i ho'ākāka 'ia i kēia palapala i ka 1919 ma Gertrud Hurler (a nolaila, i ka pololei inoa - Hurler maʻi pale, Hurler ole). Ke alapine (frequency) o ka hanana - kekahi hihia o 20-25 tausani kanaka, a ma ka hapanui hihia o nā mākua o ka hoʻohuli ai i nā keiki i pili ma ke koko. No laila, inā 'oe e diagnosed me "Hurler maʻi pale", na kumu pono e nana i ka aaiaoe kiʻekiʻe. Symptoms hōʻike kokoke koke ma hope o ka hānau, a me ka mau-makahiki lapaʻau kiʻi mua hoakaka hoikeia.

Hurler ka maʻi pale - he Classic hoike ana o ka maʻi. E like me ka maʻi 'aʻole hoʻi ia ka ulu, i hōʻike mai i ka nohoaliʻi opacity o ka cornea, ka nasal ipu koko hoʻohālana. Ma keia palapala ana o ka maʻi i loko o ka X-Ray hiki ke 'akomi i? Anoe? Sella, hua'ōlelo a me ka hoʻolōʻihi' ia 'ana o iwi lōʻihi, vertebral hypoplasia, a me ka oi ana o ka lumbar māhele (ai-kapa iʻa vertebrae), ka vertebral kolamu deformation (nā mea maʻi e ae thoracolumbar spine kyphosis a me ka lordosis). Hoʻomaka pathology o ka mea'ōnaehana mānowai koko'ōnaehana - puka liiiU coronary arteries ĸokoĸa ana nä pane kiwikā, myocardium, endocardium, ka naau ulu i loko o ka nui.

Na hiohiona hydrocephalus, i ke kumu o ka i nā hoʻokomo kālā o mucopolysaccharides i loko o nā meninges. I ho'ākāka 'foci o demyelination. Mucopolysaccharides i waiho i loko o ke akepaa, spleen,ʻaʻa puʻuwai omo epithelium; retina, sclera, cornea o ka maka; nā aʻalolo keena, cartilage.

Na keiki i hanau i ke ano helehelena - ka mea, i ka loa nona, lohi lehalehu t hiʻona, i mea no ke aha la i kekahi inoa mukopolisaharoidozov - gargoilizm (mai ka hua'ōlelo "gargoyle" - he fantastic aka me ka hana lehalehu t hiʻona), a me ka ai-kapa, a me Hurler maʻi pale. Photos, a hōʻike i ka hoʻomanawanuiʻana maopopo kahaki ii ka bizarre ei o lehalehu t hiʻona keiki. Mau keiki hoʻololi i ka puniu wale no - ka mea, i ke kinona o ka keel o ka waapa, aia no he ai-kapaia scaphocephaly, ke alanui ihu, lehelehe manoanoa, nui elelo, pali lae, pōkole'ā'ī, a me ka ano lehalehu t hōʻike. Mawaho, ka mea maoli nana e like me ka alanui eh ÷ ike ai mythological Gargoyles.

No hoi, ka mea, ua hoopokole ole i ka pahu, ka lalo iwi aoao nei iluna, eia na hoailona o ka kyphosis, na ami (oi na manamana a me nā kuʻekuʻe lima) i AEeOEXAaI, i e inguinal a me ka umbilical hernia. Nails ke loaʻa i ke ano o ka wati makaaniani, lauoho i paakiki a me ka maloo, i ka leo - haʻahaʻa a me ka husky. Chance o ka lohe poino paha hoi pepeiao kuli. Nā mea maʻi pinepine e ae mai ka niho ka palaho, i ke kumu no Hurler maʻi pale.

Symptoms nā maʻi o ka naehana oihana, no ka mea, i kēia pēpē ua ha ma ka waha,ʻo iaʻikeʻia adenoids, ia mea prone i ka mea hoʻomaʻi nā mea palahēhē. Over manawa,ʻo ia hoʻomohala ano o Mucopolysaccharidosis pilikia a me ke ake a me ka spleen (ma muli o ke mahuahua opu), dementia.

Ulu koe undersized. Ma muli o ka pololei ole ke kino o Iesu, a deformities o ka spine, e hoomanawanui i hele ma ka manao wāwae, ma ka tiptoe.

Hurler maʻi pale i e holumua ai malignant ano, no laila, e hoomanawanui i kīnā o ke kino ia lŘlŘ'āina koke. He nui na mai i ola he 10 makahiki.

lapaʻau '

Ke hoomanawanui Pono e alakai i ka lapaʻau, radiological, biochemical, mele koʻihonua, a me ka hakakino aaiaoe haʻawina. ʻike, ua i ma lapaʻau hoikeana o ka maʻi, ma muli ma ka X-Ray haʻawina a me Ka Ikepili o ka mimi, a me ka nānā 'ana'ūhū haʻawina a me ka excretion o glycosaminoglycans.

lapaʻau o mucopolysaccharidosis

Inā he hoomanawanui ua diagnosed "Hurler maʻi pale" lapaʻau komo hou symptomatic. Ke hoomanawanui Ua malama ia ma luna 'orthopedic, surgeon, pediatrician, otolaryngologist, he neurosurgeon, neurologist a me ka ophthalmologist. E hoomanawanui i akaaka malu orthopedic? Iaea o kāna hana o ka musculoskeletal'ōnaehana, e lawe aku oe i ka hernia hana pinepine pilikia i loko o kēia mau hoʻomanawanui iki mai mea hoʻomaʻi maʻi, lohe poho, otitis, sinusitis. No hoi e kau mai ma lalo o ka hooponopono ana o ka mea'ōnaehana mānowai koko nenoaiu.

Hoʻohana 'ia ai' hormonal i hulina i hoʻoikaika i ka ano o ka hoʻomanawanui.

• glucocorticoids,
• corticotropin,
• tireoidin.

Eia hou, i ka hoʻomanawanui hōʻike wikamina A, dextran 70, i ka manawa hoʻoikaika i ka ano o ka hoʻomanawanui. Pōkole-manawa hou, oia ke koko wai koko transfusion hoomakaukau.

Hurler maʻi pale ka wā o ka hoʻomanawanui hiki ke häʻawi mai ai iä physiotherapy: Electrophoresis lidazy ma ka wahi o ka loli ana o ami, kukuna puncture,ʻume mākenēki Inc, paraffin bato ke komo iloko. Nō hoʻi, nā mea maʻi i hooluoluia mai ai e komo i loko o physical Inc, kino a lakou aloha ia na ami a me ka spine. Good hualoaʻa pinepine haawi lomilomi.

No ka Hurler maʻi pale nā mea maʻi susceptible i naehana maʻi, pono e 'eleu hana sanation maʻiʻaʻai foci i loko o ka waha a me ka nasopharynx.

No ka iapaau ana o mucopolysaccharidosisʻano 1 pinepine hanaʻoki kino - corneal transplantation a? Iaea o valvular naʻau maʻi a me nā aʻalolo entrapment. I ka hoʻonohonoho 'hana, ma ka hou i symptomatic lapaʻau ai', physiotherapy aʻoki kino i ka'ūhū Inc, a anei i aeea transplantation.

Inā pono, i ka hoʻomanawanui ua lawe gryzheissecheniya, adenoidectomy, antiglaucomatous hana, tracheostomy, prosthetic ke ki kala ami, hydrocephalus shunt, a pela aku ..

Outlook

Ke kēla Ua noho lakou malaila no Hurler maʻi pale a me nā 'ano apau loa i loaʻa mucopolysaccharidosis. Hurler maʻi pale ua wehewehe aku e ka nui o ka manao. skeletal loli mai ka makahiki i ka makahiki mahuahua ana, e like me ka hopena o na nā loko, a nenoai e paha i oi nui aʻe '. Inā he keiki make o ka pneumonia ma ka kakahiaka nui elemakule, ma 7-12 makahiki ia mea palupalu iho kāohi a mentally ka polokalamu JavaScript. E adolescence ola pa alima.

Kāohi

Pale aku i ka maʻi, ua hiki ole. Akā, e hiki ke huai ae ia ma ka kakahiaka nui ke kahua - ka wā prenatalʻike. E hana i kēia, i Ka Ikepili o amniotic keena no'ūhū deficiency (i loko o ka hihia o ka maikaʻi hope o ka hāpai keiki i abortion ua paipaiʻia).

Ma muli o ke kakahiakaʻike, a me ka 'eleu hana a? Ac? Spinalʻaha mīkini'opihia hiki loaʻa paʻa poino i na nā aʻalolo. obligatory i ka 'inikua, a aaiaoe aʻoaʻo' ia no ka Kāohiʻana.

lapaʻau Time]

I loko nō o ka hihia ma ka olelo o ka iapaau ana o Hurler maʻi pale, ma ka hope 20 makahiki ma na mea he nui e hoʻomōhala ana i aina, he iwi ka lolo transplant, a me ka nui loa hoonui ae i ka pono o ke ola o nā mea maʻi. More ma mua o 10 makahiki i hoʻohana ai 'hope Inc no ka iapaau ana o nāʻano o mucopolysaccharidosis ole neurological.