Larsen maʻi pale: 'ehaʻeha ka, Symptoms, lapaʻau

Ko makou aaiaoe kivila mea ai luna 'i aneane kekahi' inoʻino loa ke i kekahi kaula naoh, a he aha ka ke kanaka mea,ʻaʻole ma kona pono. ʻepekema i mau loaa hou mai, akā, ma kā lākou mau'ōlelo, ka genome koe unexplored kanaiwa pakeneka.

hōʻikeʻano

Larsen maʻi pale (ICD-10 - M89 kuhi) - He pohihihi keia aaiaoe maʻi i loaʻa i ka laulā huahelu o phenotypic hoike ana. Ka loa ano hiʻona i manaoia e e dislocations a me subluxations o nui ami, i ke alo o malformations o na iwi lehalehu o ka puniu wale no , a lala kuleana pili i pilikia. Ke kula kiʻekiʻe hoikeana nā scoliosis, clubfoot, pōkole ke kino o Iesu, a me ka hanu pilikia.

Larsen maʻi pale ua kena ae la ma ka wahi mutations i hiki hana spontaneously, a e ili ma ka autosomal Hoʻohaku pahaohao. Me ka hoʻololi i loko o ka'ōewe FLNB nakinaki i ka pau pūʻulu o ka maʻi i hoike mai ai ia haunaele ma ka skeletal nenoaiu. I Kekahi Mau symptoms e ĸokoĸa ana nä pane, a hiki i waena o hoahanau.

kumu

He aha e hiki mai ana ma ka ka pukaʻana kino i originated Larsen maʻi pale? Nā kumu o kēia maʻi e no pee i loko o ka hiamoe ana o ka 'epekema. Ua ua waleʻike i ia mea ano o autosomal Hoʻohaku hooilina. I ka mea hoʻokahi wale nō kope o ka hoʻololi'ōewe e e lawa i ka hele i ka pathology i kā lākou mau keiki, a malia paha he mau moopuna. Ke'ōewe hiki e loko mai o nā mākua (mai nā 'ole mai kekahi) a ia i ka hopena o ka noho'na makaainana i ulu mutations. Ka pilikia o ka loaʻa maila iā ia i ka maʻi - 50/50, irrespective o ka ke keka o ke keiki, a me ka helu o nā pregnancies.

Ke Hoʻololi ''ōewe ua aia ma luna o ka pōkole lima o ke kolu o ka chromosome. Inā makemake, noiʻi ke ho onoho ana i ka wahi, kahi a ka aaiaoe ike ua hoolilo i ka hoʻololi 'ana i. Maʻamau, ua'ōewe encodes he kumuʻiʻoʻikeʻia i loko o 'epekema koʻikoʻi a hanohano o ka nui kūlana i loko o ka ulu ana o ka cytoskeleton like filamin B. It Radio. Mutations alakai i ka mea i ke kumuʻiʻo pohaku e hana kona papa, a ma keia, na keena o ke kino i ka heluna kānaka.

People me keia maʻi pale mosaicism me ke kūʻokoʻa. ʻo ia hoʻi, ka oolea a me ka helu o nā symptoms o ka maʻi e pono e kaukaʻi ma o ka helu o ke keena i ku. Kekahi kanaka ke ole i hāʻupu aʻe i ka mea, i ke kina o keia'ōewe.

epidemiology

Larsen maʻi pale e hoʻomōhala ai i ka ia ana i loko o nā kānaka a me nā wāhine. E like me ia He kokekau wale koho, i ka maʻi i loko o ia lŘlŘ kekahi mai o hoʻokahi haneri tausani keiki. He, mea pōmaikaʻi, loa pohihihi keia. Koho i manaoia unreliable, no ka mea, o kekahi pilikia i loko o nä keia maʻi pale.

No ka mea manawa mua i ka maʻi i loko o ka 'inikua moʻokalaleo ua, ua ho'ākāka' ia ma ka hapalua like-iwakalua kenekulia. Lauren Larsen a me nā hoapili i loaʻa, a hoʻopaʻa 'eono hihia o ka maʻi pale i loko o nā keiki.

symptoms

Larsen maʻi pale, e like me ka olelo maluna, hiki ke hoikeia ma na aoao, a hiki ma waena o kokoke hoahanau. Ka loa ano symptoms o ka maʻi i manaoia e hoʻololi i ka lehalehu t iwi. Kēia nā: he palahalaha haʻahaʻa uapo o ka ihu, a he ākea ka lae, i lalo ka maka, i ke alo o ka mauae lehelehe luna paha kīleo. Eia hou, na keiki, he mau dislocations a nui ami (ke ki kala, kukuli iho, kuʻekuʻe aku) a me ka'ūhā mua subluxation.

Manamana lima o ka poʻe pōkole, palahalaha, me ka nawaliwali ami e wehe ai. Ka pulima oʻu i e nā iwi i merge me ka makahiki, a uhai i ka biomechanics o ka neʻe. No kekahi kanaka, aia no he mea pohihihi keia kŰia like tracheomalacia ( 'ole i hoopalupaluia, no ka cartilage o ka trachea).

lapaʻau '

ʻike, "Larsen maʻi pale" ua i ma hope o ka piha ninaninau o ka hoomanawanui, akahele ninaninau o kona 'inikua moolelo a me ke alo o ke ano X-Ray symptoms wale. Eia hou kekahi, he piha radiographic ninaninau ke hoike abnormalities a me ka hui pu skeletal? Acaeoey, i mea kahiko o ka'āina e pili pū ana i ka maʻi.

Ultrasoundʻike, ma ka utero e hoike Larsen maʻi pale. Photos o ka iwi ho okumu i ka luawai-hoʻomaʻamaʻa ultrasound hoʻomalu hiki ia i kekahi wahi ho omaka no ka huli 'ana no ka aaiaoe abnormalities o ka fetus. No ka mea, ma mua kilohi hiki ole oe e hai mai i ke ano o ka maʻi i alakaʻi ai i ka pathology o ka lehalehu t iwi poʻo a me ka iwi o kaʻaoʻao, me ka expectant makuahine ua? Aeiiaiaoaony e hana i amniocentesis, a hoʻomaka aaiaoe ninaninau i ka huli 'ana no ka mutations i loko o ke kolu o ka chromosome.

Inā ka maʻi ua hoʻopaʻa, akā, i ka hui i manao e malama i hāpai keiki, ka expectant makuahine ua? Aeiiaiaoaony e hana caesarean pauku kaʻina hana, no laila, i ole e hanaʻino i ke keiki i ka iwi iloko o kona hooholo ma ka pelvis wahine me ka vaginal hānau.

lapaʻau

Pākōlea ana i ole nona ma ka hoʻopau o ka maʻi, a me ka emi lapaʻau hoailona. Keia ohana pediatricians, orthopedists, hoʻomalu ma maxillofacialʻoki kino a me ka aaiaoe?. Ma hope o ka loiloi 'ana o ka loiloi mua ana o ke keiki, a Loiloi a pau na ka pilikia, ka mea hiki ke hoʻomaka i ka paʻipaʻi nei' aʻe '.

Ka loa intrusive koho, a ua malamaia lakou nei, Larsen maʻi pale - lomilomi. He mea pono e hooikaika na nāʻiʻo a me ka ligaments e malama i na ami, a me ka hoʻoikaika i ka malama ana o ke kua, a straighten i ka spine. Akā, ma mua lede i ka pākōlea ki ina hana like kauoha i ka helu o ka hana. Ka mea, e pono no ka? Ee deformation loa paha skeletal deformities, vertebral noaaeeecaoee. I ka tracheomalacia koi intubation, a laila, hoonoho iho la i ka hanu şarkı (ana), a e malama i ka patency o ke keena airway.

Iapaau ana o keia maʻi - he lengthy kaʻina hana i hiki ke lawe makahiki. Me ka maturation o ke keiki maoli i ka haawe ana ma luna o ka iwi, a me ka mea i hou e pono ai physical hoʻopulapula, physiotherapy, a malia o hikiʻoki kino.