Congenital adrenal hyperplasia:ʻike, a me ka lapaʻau

Congenital adrenal hyperplasia - he nuiʻano o aaiaoe kāna hana i ala mai i kaʻilihune o ka mā kumuʻiʻo backhaul. Ma kēia 'atikala e kamaʻilio pū mākou e pili ana i ka mea i kēia mau maʻi, e like me kāu kiʻina hana o kaʻike, a me ka lapaau.

A mau olelo e pili ana i ka maʻi

Ke adrenal glands pee i ka kūikawāʻano o hormones, e 'Imi' ole i loko o ka keʻano o ka hanaʻana o ka? Acaeoey a me ka ulu ana o ke kino a pau. Ma nā hua'ōlelo, congenital adrenal dysfunction haawiia i like adrenogenital maʻi pale a adrenocortical hyperplasia.

No laila, i keʻano o nā pathologies adrenal keia pae ua IeAUPIIe, IAa IO me ka emi ma ka cortisol hou pili. Kēia, ma ka huli, ua hoohele i ka mahuahua secretion o adrenocorticotropic hōmona. Pela, ua ike e hoomanawanui i ka hooulu ana o ka nui ai hanaʻia naʻe o ka adrenal cortex.

Ka pilikia o ka maʻi i loko o ka o kēia au nei

Congenital dysfunction o ka adrenal cortex - he maʻi i ua ili mai iā ia. Eia kekahi, ua pathology ia lŘlŘ me ka like alapine (frequency) i ka wahine, a me ka poe kane a pau. Aia i kekahi mauʻano likeʻole o kēlā lapaʻau maʻi, a kokoke i kela mea keia mea o ia mea incompatible me ke ola. A no ke aha la keiki me keia maʻi pinepine e make ma ka hanau ana.

E like me ka hoike ma ka 'inikua' ikepili helu, congenital adrenal hyperplasia pinepine ia lŘlŘ like me ka hopena o mā ma ka hydroxylase iwakalua-mua. Nō hoʻi, i ka prevalence o ka maʻi hilinaʻi nui ma ka heihei. No kekahi laʻana, ina e lawe i ka poeikohoia o ka keʻokeʻo lāhui, i kēia maʻi, e e ike i kekahi keiki o ka 14 tausani. Oiai ka Eskimos makemake o kela mea keia makahiki elua haneri a me kanawalu pēpē e maʻi.

Mea pōmaikaʻi, i keia la i ka pilikia o ke kanaka me ka me kēia mau maʻi puʻuwai ua pau Wehewehe i nā hāʻina, akā, wale i loko o ka loa e hoʻomōhala ana i'āina o ko ke ao nei. I ka loaʻaʻana o kēia maʻi mea nō i loko o kona wā kamaliʻi paramedics alakai ae hana haʻawina, e kōkua hōʻike congenital maʻi i kakahiaka nui me hiki. Penei, he mea hiki, e hoʻomaka pono like hormonal lapaau ma mua o ka hoouka kaua ana o symptoms o adrenal insufficiency.

Makaʻu e hoomahuahua i ke kamepiula

Ma ka hapanui o hoopii, congenital adrenal hyperplasia ia lŘlŘ inā i loaʻa i ka maʻi ma ka liʻiliʻi loa kekahi makua, a ina o ka makua i nā moku halihali mokulele o ka pololei'ōewe no ka maalo ana o na nā polokina e i pono e paka adrenocortical hormones. Inā i loaʻa ia i kekahi'ōewe i loko o nā makua, aia no he manawa kūpono o ka iwakalua-kumamalima pakeneka o ua kao keiki, ua 'akomi i keia pathology.

I hiki aku ai i ka ulu ana o ka dysfunction

He nui e maopopo pehea e hele aku aiʻano papa hana o adrenal hyperplasia. It O ke kumukuai o 'ana i kumumanaʻo e like me ka hopena o kūpono amo nā polokina e emi ka nui o adrenal aldosterone a me ka cortisol. He kumu no ka hoomahuahua i? Iecaianoaaiiuo o adrenocorticotropic hōmona ma ka pituitary gland. Kēia hōmona He kuleana no ka hooponopono ana i ka pono hana o ka adrenal glands lakou iho.

Inā adrenocorticotropic hōmona hua mai la i ka excessively nui nui, ua hiki aku i ka kŰia o ka hyperplasia. It E e ike i mahuahua secretion o kāne hormones. A nui lehulehu o androgens hiki aku ai i ka deformation o na wahine, e like me ka pono me excessive lauoho ka ulu ana ma luna o ka maka, a me nā mea a pau ma luna o kona kino.

ano o ka maʻi

I ka 'inikua hana, eia ekolu ano o ka maʻi.

1. Uncomplicated, a virility palapala. Kēia palapala ana ia lŘlŘ ka wā iʻuʻuku kumuʻiʻo deficiency iwakalua-mua hydroxylase.
2. Solteryayuschaya palapala congenital adrenal hyperplasia ua wehewehe aku ma ka walaau ole deficiency o keia'ūhū.
3. Hypertensive oko a hihia like me ka hopena o ka nele i ka nui'ūhū-gidrolaktazy 11b.

symptoms

Ka palapala mua ua ana pu ma ke alo o symptoms e like me penisoobrazny clitoris, labia nui moshonkoobraznye a urogenital sinus i ka wahine. I kanaka, o ke kane a me ka wahine ike loa kokololio ulu o ole wale ka physical pelane, akā, i ka moe. I ka Ia manawa na keiki malama izoseksualny 'ano o ka? Acaeoey, a me na kaikamahine - he heterosexual.

Solteryayuschaya ano o congenital adrenal hyperplasia ua ana ike i loko o nā keiki. Ma waho aʻeo ia ka luna symptoms i hoi hou ai i ka mea mua, a me ka 'aʻe' loa nui o ka adrenal cortex. Kēia me ka nui loa ua hoʻemi ikaika loa ka makemake, electrolyte pūnao, a aole e hoʻonui kino ke kaumaha. Eia hou, nui pinepine ia e hoʻomōhala ana i hypotension a me ka dehydration ia lŘlŘ. Inā na symptoms i i ike, a hiki ma ka kuʻina kakahiaka o ka maʻi, he mea he pilikia nui o ka make i loko o ke alo o ka'opiʻike manaʻo. Inā, mai ka loa kinohi ua e koho i ka lapaau akau, i ka makahiki o uaʻike manaʻo hiki ke loa eliminated.

Congenital adrenal hyperplasia i loko o nā wāhine hiki aku ai i ka loli i loko o ka 'ole o ka mea mawaho genitalia. Ua hookuu aku oia i kekahi, alahula mau dala o ke kane hōmona androgen aʻole e pili mai ka differentiation o na wahine ke keka nā loko. Maʻamau, ka ovaries a me ka uterus kahe ala ka pau maʻamau. Mawaho genitalia i improperly i hanaʻia ma ka hanau kaikamahine. I ka 'inikua hana, he he hailona o ka hihia, i ka wa o ka hanau ana o kekahi kaikamahine ia ua ia he kane hoohanau.

Aie i ka hopena maikaʻi 'ole o androgens, e hoomanawanui i hoʻomaka e ulu loa koke mai o ka loa hanau ana. Loa kakahiaka nui ka mea, ikeia kiʻekiʻe 'īnea i ano. Eia hou kekahi, a pau nā mea maʻi i pōkole kino, a he oiaio, ua disproportionate huahelu. Ke pelvis Ua loa haiki, a me nā poʻohiwi - oi ka laula. Ma keia hihia, ma ka wahine i i hoʻomaka i ka ulu umauma, a 'aʻole i hōʻike menstruation. I ka mea ia manawa, e Hoʻololi 'ka mea mawaho wahine nā loko, kino lauoho akaka ma ke kino, a me kona leo noho lalo.

Male e hoomanawanui i hoʻomōhala e like me ka izoseksualnym type. Kela manawa, i ka wā kamaliʻi hiki ke ike hypertrophy o na penis, a hoʻi pū ana i ka uuku nui. Ma adolescence nā mea maʻi pinepine ai ka haohao anaʻeho ho okumu i loko o ka testes. Loa pinepine, na kanaka ma ke alo o keia maʻi e ae mai infertility.

Hypertensive ano o ka maʻi ua i wehewehe aku e na symptoms a pau i helu 'ia ma luna, akā, pu no hoi ma kiʻekiʻe ke koko. Ma ka hooko ana mai i na mea ana kauka kaʻina hana e like aʻe: i ke alo o ke kumuʻiʻo ma ka mimi, naʻau mau mokuna a hoomaka a Hoʻololi 'ipu fundus.

Ke ole-panina ano o ka maʻi

Ke ole-panina ano o congenital adrenal hyperplasia o ka poe noonoo ole loa a me ka mehana papa o ka maʻi. Ma keia hihia, 21-hydroxylase ua hua mai i loko o ka huina iki emi ma mua o ka mea maʻamau. Ma keia hihia, i hookuu i ka wahine i loko o nā kānaka a me nā wāhine, e hoʻomohala pono, a me ka mea mua hoailona o ka maʻi i e hoikeia ma hope adolescence wale. Loa pinepine, ole-panina ano o congenital adrenal hyperplasia ike i loko o na wahine, ka poe i no e pili ana i ia pilikia.

• Paʻa ka haunaele ma ka pōʻaiapuni menses;
• lōpū ole loa ke ano o ka huehue;
• he mea hiki ole ke loaa hāpai;
• Kekahi mau mea ma luna o ke kino loaʻa i ka ili poo o kāne type.

Loa pinepine, rejection nīnūnē liʻiliʻi, no laila,ʻaʻohe ole i ka hana o ka procreation, aole ia e hoʻolako. Women loaʻa ka wā e ho'āʻo ana e kiʻi hapai no ka maʻi "congenital adrenal hyperplasia". Ke ole-panina ano o ka hana a me ka mākaʻi wale i loko o na wahine, ka poe i kane pele mai i kekahi haunaele nui. Nolaila, lapaʻau mea kūpono 'ole ka hana.

ʻike, no ka maʻi

He nui loa i ke keiki, e hooholo i ke alo o na maʻi like congenital adrenal hyperplasia. Lapaʻau 'apono' oe, e hoakaka i ke ano o ka maʻi, a kokua i ka hana me ka hou lapaau.

All keiki i hanau ia me na hiohiona abnormalities i loko o ka 'ole o ka mea mawaho genitalia, kauka hana kūikawā lapaʻau' ana, a leie aku e hoakaka ke keka chromatin, e like me ka hooholo i ka karyotype. Loa pinepine, ka wā i congenital ano o keia maʻi i loko o'ōpio nā mea maʻi ua ike i loko o ke koko excessive dala o ke kane hōmona. E hoʻoholo i ka 'ilikai pono, e lawe mai i ka loiloi hōʻike. Nō kāu, ua ikea ua hōʻike i ka lehulehu o keia hōmona i loko o ke koko loa kekahi mau manawa.

E like me ua ikeia, congenital adrenal hyperplasia i keiki ua pu ma ka loa kokololio ulu o ka iwi'aʻaʻa. I mea e noiʻi i kona 'ole a me ka hionapāʻili, kauka hana i kekahi ano o vocal lapaʻau' ana. Ma keia hihia, he X-Ray hana, a me ka ua, mai o nā kiʻi, ua hiki ke hoʻoholo i ka iwi makahiki o ka hoʻomanawanui. Inā he mau maʻi, ia mea IeAUPIIe, IAa IO he ano no a pau na ami a me ka iwi makahiki e mamao mamua o ka makahiki o ka hoʻomanawanui.

Inā o ka hanau ana o ke kaikamahine i ike i na hoailona o ka hermaphroditism, na kauka lawe mai ultrasound o ka wahine wahine mutilation. Ma keia hihia, kā lākou 'ole mea i hookuu ole okoa mai ke kūmau.

¶ A i ka makahiki mua o ke ola mau keiki, kauka palena pauʻike. Ua apono 'oe e hōʻike wahaheʻe a me ka oiaio hermaphroditism mea. Ma keia hihia, no ka lapaʻau 'ana iaoia ua karyotyping. A, o ka papa, eʻoiaʻiʻo, e hooholo i ke kiʻekiʻe o ke kane hōmona androgen.

Ma waho o ka luna kāu kiʻina hana i kālailai anamnestic ikepili. I ka papa kuhikuhiE a me ka nui loa ana hiki ke kapaʻia ka nui o ka 17-hydroxyprogesterone.

Congenital adrenal hyperplasia i loko o nā keiki ke ke loaʻa ma ka ha a lima o ka lā ma hope o ka hānauʻana me ke kōkua o ke kaʻina hana e like me neonatal loiloi. Kēia Ka Ikepili komo ai o kéu 17-hydroxyprogesterone i loko o ke koko ia mai ke kuekue wawae. Kēia Ka Ikepili e kōkua kuhikuhi i ke alo o ka maʻi i loko o nā lā mua o ke ola. Kēia e kōkua koke lapaau.

therapies

Congenital adrenal hyperplasia, pono e hana i nā symptoms o i i ho'ākāka 'ia ma luna, ma muli o ia ka innate ano me ka ikaika lāʻau hakahaka Inc e like me "prednisolone" a me ka dukima kona analogues. Ana haawi mai o glucocorticoids i loko o ke kino, ka lawe i ka loa maikaʻi keiki. Ma ka kekahi lima, e hiki ke hoʻopau adrenal insufficiency congenital kumu i kēia mau waiwai. Ma ka kekahi lima, hoomakaukau na hormones, e hiki ke uhi excessive secretion o adrenocorticotropic hōmona. Eia kekahi, e hoomaka hoʻoponopono iho manaʻoʻano papa hana, a nolaila ho'ēmi i kā ka mea i kā mākou kiʻekiʻe o hydro.

Inā ka maʻi o solteryayuschuyu palapala, i ka i wehewehe aku ma ka deficiency o ka mineralocorticoid, ka iapaau ana ua hoi hou i ka paakai pāʻoihana a me ka deoxycorticosterone'ākeka. Eia hou, na kaikamahine a pau no hoi e pono aiʻoki lāʻau lapaʻau 'uao, me ka i oe ke wehe i ka hypertrophied clitoris.

I ka papa hana o ka makeʻe kulana lapaʻau

Congenital adrenal hyperplasia, i ka iapaau ana o ka i hiki maoli Makuakane me keia pathology, e hoʻomaka ma ka kamaliʻi. Kēia E e hana koke ma hope o ka maʻi i 'akomi i.

Loa pinepine, i ka manao o na kauka i ka manao, e hoʻohana i ka lāʻau 'o "Prednisolone" hope Inc. Ka mea, i nā mea a pau i ka mea waiwai no ka iapaau ana o keia mai, a ma ka pololei laʻau heluna kohoʻia,ʻaʻole e i ma luna o ke kanaka kino he io ole.

ka iapaau ana kaʻina hana iho e hoʻomaka ma ka mālama nei PalekanaEND_LINK ho'āʻo ma. Ma keia hihia, kauka i koi 'ia k ‰ ia no ka hebedoma o 15-20 mg i ka lā paha, aiʻelua - eha milligrams o "Dexamethasone", a e lawe mau i na la ekolu. Inā keia ikea ai ua hōʻike maikaʻi hualoaʻa, pela no oe e hoʻomaka i ka paʻa hoolaia "prednisone". Ma ka hapanui o na hihia, ka mea i kela la laʻau heluna mea ma kahi o 10-15 mg no ka lā. Eia naʻe, kēlā me kēia hihia Ua loa kanaka, no laila, i loko o ka 'atikala helu wale mau koi. Ua hilinaʻi nui ma luna o ka makahiki o ke keiki, e like me ka pono me ma luna o ka iliwai o hormones i loko o ke koko, a me ka degere o ka virilization.

Mai ka mahele lāʻau i nā hoemi ma manawa. Keia ua hana e 2-2.5 mg no hebedoma. Ka hope loa laʻau heluna hiki e ma hope o hoʻomaka lapaʻau manao wale ma hope o kekahi a me nā mahina. E like me ka poe akamai, pono e koho i ka kela la i keia laʻau heluna no na keiki ma lalo o ka makahiki o hoʻokahi makahiki wale nō pākahi, ma ka laina me ka lapaʻau ikepili ma oi ma mua o hormonal kiko'î. I mea, e koho i ka mea e pono ai ke mahele lāʻau o ke kao keiki mea he pilikia. He pono, e hoʻomaka ka hoʻomauʻana ikea ai, i mea e pale aku i ka pilikia o ka overdose. Palena iki i kela uku o wale 2,5 mg, a ana i kā mākou - 15 mg.

E hoʻomanaʻoʻoukou i ka laweʻana i kēia mau ai 'e mau loa ana. Keia ua maikai i hana ai i loko o ke kakahiaka, a ma ke ahiahi, ma hope o kaʻai. Inā 'oe i ka pono e hoʻololi i ka lāʻau, ka mea i pono, e noonoo i kona physiological haʻawina.

Ma kekahi mau hihia, i ka lāʻau "cortisone" hoʻohana i ka hana i kēia maʻi. Naʻe, ka mea i hiki ia i ka hemahema a me ka pōkole-manawa 'ole ma o ka suppression o adrenocorticotropic hōmona. Kēia lāʻau mea nawaliwali "Prednisolone" manawa hou aku elima, a nolaila, pono i ka nui a lawa laʻau heluna. Keiki kēia mau ai 'pele lawelawe ma intramuscular ka pahu kui i loko o ke kakahiaka.

Kekahi o ka loa ka hoʻokō glucocorticoid noʻonoʻo "Dexamethasone". He mea hiki ke uhi i ka? Iecaianoaaiiie o adrenocorticotropic hōmona he umi hou ka maiau ma mua o ka mea e hana ana "Prednisolone". Akā, he mea pono e lawe i ka mooolelo i ka mea i aneane ole ia i ka paakai pūnao, a me ka pinepine he hoʻonui i ka overdose. Kela la i keia kūmau o ka waiwai ka nui 0.25-0.5 mg.

All huahana helu 'ia ma luna, e i ma luna o ke kino o ka hopena maikaʻi ia wale nō i loko o ka hihia o ke koho ana o ka hewa laʻau heluna. Ua paipai i ka lawe ana i oi i ke kala ma mua o ua koi 'ia ma ke kino, e i ka kŘpuna hopena ma luna ona. Inā excessive ana o kekahi o kēia mau ai 'o ka hoʻomanawanui e e malama redness, a ua hoʻokōʻia i lalo ke alo, mahuahua ikaika loa ka makemake, a me kekahi manawa i ka wehe ana o ka ulu a me ka ulu ana. Eia naʻe, a pau o ka waiwai o ka overdose loa hoʻomaka koke nalo ina kona iki i ka ho'ēmi i, a neʻe i ka nawaliwali ka lapaʻauʻia.

hana oʻoki lāʻau lapaʻau lapaʻau

IeAUPIIe, IAa IO, congenital adrenal hyperplasia ua ili ma ka autosomal recessive type. Ma keia hihia, ka mea, aole ia i mea i palapala mai i kēia maʻi.

Kekahi o na kuʻina o ka pono wale i nā kaikamahine mea eaʻoki kino. Loa pinepine hanaʻoki kino ma ke kahua o ka pololei palapala o ka labia minora, he resection o na clitoris, a me ka weheʻana o ka urogenital sinus. Oia ka hana o ka pono, e like me ka mea kokua i ka hoihoi i ka pololei physiological mana o ke kino kaikamahine, e like me ka pono me ka nohona a me ka manaʻoʻike manaʻo nui. Penei, i ke keiki 'aʻole e haha aku i ko lakou inferiority, no laila ka mea, hiki e haawiia i ka kindergarten a me nā haʻuki pauku. Eia naʻe, e hoailona oukou ia oe pono e lawe mai i ka hana no ma ka liʻiliʻi loa hoʻokahi makahiki ma hope o ka hoʻomaka 'ana o ka iapaau ana me ka hormonal konohiki.

He nui ke noiʻi i nā mea a pau, ao ke ano o ka maʻi e like me congenital adrenal hyperplasia. ICD-10 - ana he Mea Maluna o ka maʻi i loko o a ka maʻi i ke kuhi E.25.0

Congenital adrenal hyperplasia a me ka hāpai keiki

Inā ka hoʻomanawanui i kia-pubertal ano o ka maʻi, he mea he kiʻekiʻe pahiki o ka undeveloped fetus, abortion, miscarriage a me ka 'inikua abortions. Loa pinepine hapai wahine ohumu o ka poʻeʻilihune a me ka vitality loa lilo o ka'ōpū. 'Aʻole i hoʻokoe', a me ka electrolyte imbalance. I hookuu ia me ka iwakalua-walu o ka pule o ka hāpai keiki, i ke ahonui o ka kulana holomua me ka nui loa. E hōʻoia i ka malama i ka manao i hiki ia harboring i ke kamaiki hiki ole tolerate discontinuation o hormonal ai '. Hana keia, e loaa no ke ola.

Ka nahunahu hanau, a me ka wā ma hope o ia mau mea - i kēia mea loa stressful no ke kino a pau, a me nā kauoha aupuni o ka adrenal cortex. Nolaila, i ka wa a ka maʻi "congenital adrenal hyperplasia", ma ka moku'āina o ke ola kino Ka Ikepili, e pono e lawe i ka manawa. A wahine e mana na hormones nā hoailona.

Nā wānana waiwai no ka wā e hiki mai

Virilnoe ano o congenital adrenal hyperplasia, e like me kekahi 'ē palapala ke haawi maikai wānana wale ka wā o ka hoʻomaka' ana o ka 'āwīwī a me ka pono hana. O ka holo ana, ia mea nui, e hookupaa aku i ka pololeiʻike, loa.

Pinepine, i ka wa a ka 'eleu hoʻomaka' o ka lapaʻau ke pale haunaele i loko o ka 'ole o ka wahine mawaho wahine nā loko. He mea nui ke koho i ka pololei laʻau heluna. Inā keia ua hana incorrectly, ka mea, e pau ana i ka ulu ana o ke kino, a me na wahine e masculinization huahelu.

Congenital dysfunction o adrenal cortex nonclassical mea,ʻaʻole like pilikia ano o ka maʻi, akā, i ka iapaau ana kaʻina hana ana ignoring i ka wahine paha, e noho keiki ole.

Eia naʻe, me ka pono lapaʻau, i na wahine me ka solteryayuschey ano o ka maʻi, i nā mea a pau wale ana, e lilo hapai. Na ka papa kuhikuhiE mea - mai i holo ia lakou iho, mau lawe kauka i hoakaka ia lapaʻauʻia, a me ka malama i ka I Aloha Hawaii maikai. A laila,ʻaʻoleʻoe e makaʻu ana i kekahi maʻi. E ola.