Laron maʻi pale: mea, lalau mai,ʻike, lapaʻau, prognosis

Laron maʻi pale - he pathological ana i loko i ke kino mea,ʻaʻole hiki keʻae me ka hana ana o ka ulu ana hōmona. Ka loa, he pono ole symptom o ka 'aʻe' - dwarfism. I waena o nā symptoms hiki ke hōʻike 'nawaliwali o na nāʻiʻo a me ka hakumakuma hoʻi nâ mea, keiki hypoglycemia, lohi moe kūpono' ana, lālā hua'ōlelo, like hoʻi me obesity. Loa pinepine i'āno'ē loli (mutations) o ka'ōewe kuleana no ka ulu. Ua ua ili ma ka autosomal recessive kāna moʻolelo.

symptoms

Laron maʻi pale mea pohihihi kāna hana. Ma keia hihia, i kaʻike, o nā pēpē i, IeAUPIIe, IAa IO i awelika holo 'awelika o ka ulu a me ke kaupaonaʻana ka waiwai, akā, i loko o ka wā e hiki mai ko lakou ulu physical' aʻole hoʻi dramatically. Untreated makua kāne a pau i hiki maximal ulu o 130 knm. Ulu wahine mea emi o 120 knm.

Ma waho aʻeo ia i ka haʻahaʻa ulu o ke alo o ke pathology kēia mau symptoms:

• Muscle nawaliwali, nele o ke ahonui;
• Hypoglycemia ma kamaliʻi;
• hoolohi puberty;
• disproportionately uuku wahine;
• lahilahi, nawaliwali lauoho;
• 'aʻe' ana o ka 'ole o ka niho;
• hoopokole lala;
• obesity;
• kiʻiona lehalehu t hiʻona (koʻikoʻi lae, ke alanui ihu, uliuli sclera maʻi pale).

kumu

Laron maʻi pale ma o na la mutation ec ulu hōmona mea loaʻa - kumuʻiʻo loaʻa ma luna o ka pā membranes o keena ma ke kino. Mea loaʻa ka ulu hōmona ua manaoia e hoʻomaopopo, a haʻalele i ka somatotropin, ma laila nāna i hāpai i ka ulu a me ka puunaue ana o aeee. Mutations o ka'ōewe alalai mai i ka maʻamau functioning o ka liluweloʻano papa hana, a alakai i ka haunaele o ka halepaahao? Acaeoey. He nui symptoms o ka mai, kena ae la ia e ka hikiʻole, e paha i kekahi haumāna hōmona - insulina-me ulu ololi.

nā kūpuna mai

Ma ka hapanui o hoopii, Laron maʻi pale i loko o nā keiki ua ili ma ka autosomal recessive ano. Kēia 'o ia hoʻi i ka holo pono ua kena ae la ia e mutations i loko o nā kope o ka loli ana o'ōewe i loko o kēlā me kēia halepaahao. I nā mākua o nā mea maʻi me kāna hana pele i nā moku halihali mokulele o kekahi kope o ka mutated'ōewe, a kākaʻikahi e ae mai ka typical hoikeana o kaʻaihue. Ka wā mau nā moku halihali mokulele o ka recessive autosomal maʻi hanau keiki hooilina maʻi kamepiula ka 25%; paha ia e ka OE lawe o ana kēlā me kēia o na makua - 50%; wale no i loaʻa maila iā ia i kekahi'āno'ē a mutated'ōewe - 25%.

E like me kekahi hoike, he mauʻohana ma i Laron maʻi pale ua ili ma ka autosomal Hoʻohaku ano. Ma ia mau hoopii, no ka EYI o ka maʻi o ka mutation i loko o kekahi kope o ka loli ana o'ōewe i loko o kēlā me kēia halepaahao. I kekahi manawa, i kēia hiʻona apono i ke keiki mai ka makua i ke pathology o ka hoʻomanawanui. Ike a me ka hou hihia,ʻaʻole ili aaiaoe mutations, i ka wa a ka 'aʻe' ua diagnosed i loko o nā keiki ma ka 'ohana ka poe i ole i ka hookahi hihia o ka maʻi. A kanaka me ka hookupaa iho la ia pathology hōʻike mutated'ōewe i kā lākou poʻe keiki ma ka 50% o ka hihia.

lapaʻau '

Ma hope o ka loiloi mua auhau o ahuwale na hoailona a me symptoms o ka hoʻomalu hiki diagnose Laron maʻi pale (kiʻi o nā poʻe me ka pathology knm. Ma ka 'atikala). hou e ho'āʻo ai i lawe mai e hōʻoia i kēiaʻike, a me ka hoʻokō differentiation, a me ke koko hoao no kekahi hormones. Loa pinepine i loko o kanaka me ka kāna hana ua hoano e kiekie pae o ka ulu ana hōmona i ka ia manawa me ka emi ma ka insulina-me ulu ololi. Ma kekahi mau hihia, kauka i hoakaka ia aaiaoe haʻawina e hōʻoia i ka'ōewe mutation. PalekanaEND_LINK ana hualoaʻa ae e hooholo kaʻoi loa Laron maʻi pale.

lapaʻau

Loa hoola i kēia pathological moku'āina o kēia lapaau mea ole nae i ka poe ikaika no lakou. Innovative Inc kuhikuhi hoʻomōhala i ka hoʻonui o ka ulu, a ua hoʻolako 'ia e ka subcutaneous ka pahu kui o ka insulina nalowale hōmona. Waiwai hoʻoulu laina ulu (i loko o kona kiʻekiʻe), e hōʻeleu i ke kūpono 'ana o ka lolo, a ua ālai' ka hanana o metabolic kāna hana, kena ae la ia e hooloihi ae i deficiency pono nā polokina. Eia hou, ua injections hoala koko kōpaʻa, pale aku i ka hoʻomāhuahua o ka naʻokoko, a me ka nui loa kēlā Muscle'aʻaʻa. Lapaʻau o insulina-me ulu ololi e halihaliia oia iwaho ma lalo o ka ikaika nā limahana o ka hoʻomalu, e like me ka oi ana o na koi laʻau heluna ke alakai i ka mea ola pilikia.

Outlook

Lōʻihi-ʻia prognosis ka loa pinepine loa optimistic. Laron maʻi pale 'Aʻole i pili i ke ola expectancy. A, na nā moku halihali mokulele o ka hereditary maʻi mea nui emi pilikia o ka maʻi 'aʻai, a non-insulina mimikō mellitus. Currently ua alakai nui noiʻi e kuhikuhi i nā loulou ma waena o Laron maʻi pale, aaiaoe mutations, ulu hōmona a me ka ulu ana o malignant hikoko. He hiki i loko o kēia mau'ōewe loli o ke ki ia aiʻulupā Ka maʻi 'aʻai.