ʻO hyperplasia adrenal congenital

ʻO ka hyperplasia adrenal adrenal ka inoa i hāʻawi ʻia i kahi hui o nā maʻi hoʻoilina o ka adrenal gland.

Loaʻa i nā kānaka he 2 adrenal glands. Aia kekahi ma luna o ko lākou mau puʻupaʻa. Hana kēia mau ʻōpū i nā homone, e like me ka cortisol a me ka aldosterone, he mea nui ia no ke ola. ʻO ka poʻe me ka hyperplasia adrenal congenital nele i kahi enzyme e pono ai nā adrenal glands e hana i nā hormoni.

I ka manawa like, hana ke kino i androgen hou, kahi ʻano o ka hormone kāne kāne. ʻO kēia ke kumu o ke kū ʻana o nā hiʻohiʻona kāne (a i ʻole kūpono ʻole).

Hiki i ka hyperplasia adrenal congenital ke hoʻololi i nā keikikāne a me nā kaikamahine. Ma kahi o 1 i 10,000 a 18,000 mau keiki i hānau ʻia me ka hyperplasia adrenal congenital.

E loli nā ʻōuli, e pili ana i ke ʻano o ka hyperplasia adrenal congenital i loaʻa i kekahi, a me ko lākou mau makahiki ke ʻike ʻia ka maʻi.

• ʻAʻole hiki i nā keiki me nā ʻano milder a hōʻailona a hōʻailona paha o ka hyperplasia adrenal congenital a ʻaʻole paha e ʻike ʻia a hiki i ka wā ʻōpio.
• ʻO nā kaikamahine me ke ʻano ʻoi loa ke ʻano pinepine i nā genital makamae i ka wā hānau a hiki ke ʻike ʻia ma mua o ka hōʻike ʻia ʻana o nā ʻōuli.
• E ʻike ʻia nā keikikāne ma ke ʻano maʻamau i ka wā hānau, ʻoiai inā he kino ko lākou ʻano.

I nā keiki me ka ʻoi loa o ke ʻano o ka maʻi, ulu pinepine nā ʻōuli ma waena o 2 a 3 mau pule ma hope o ka hānau ʻana.

• Hānai hānai a luaʻi paha
• Make wai
• Hoʻololi nā electrolyte (nā pae maʻamau o ka sodium a me ka potassium i ke koko)
• Rhythm puʻuwai maʻamau

ʻO nā kaikamahine me ke ʻano milder e loaʻa i nā wahine hānau hānau maʻamau (ovaries, uterus, a me nā tuba fallopian). Loaʻa iā lākou nā hoʻololi hou:

• Nā wā menstrual maʻamau a i ʻole hiki ʻole i ka menstruate
• ʻO ka maka mua o ka lauoho pubic a i ʻole ka armpit
• ʻO ka ulu lauoho nui a lauoho lauoho paha
• ʻO kekahi hoʻonui i ka clitoris

ʻO nā keikikāne me ka ʻano milder e hōʻike maʻamau i ka wā hānau. Eia nō naʻe, ʻike ʻia lākou e komo i ka wā ʻōpio. Pākuʻi ʻia paha nā ʻōuli:

• Leo hohonu
• ʻO ka maka mua o ka lauoho pubic a i ʻole ka armpit
• Hoʻonui ʻia ka peni akā nā hōʻike maʻamau
• Nā mākala ulu maikaʻi

E lōʻihi nā keikikāne a me nā kaikamahine ma ke ʻano he kamaliʻi, akā ʻoi aku ka pōkole ma mua o ka maʻamau e like me ka poʻe mākua.

E kauoha ke kahu mālama ola o kāu keiki i kekahi mau hoʻokolohua. ʻO nā hoʻokolohua koko maʻamau ka:

• Nā electrolytes serum
• Aldosterone
• ʻO Renin
• Cortisol

X-kukuna o ka lima hema a me ka pulima e hōʻike paha i nā iwi o ke keiki he ʻelemakule ia ma mua o ko lākou mau makahiki maoli.

Hiki i nā hoʻāʻo genetic ke kōkua i ka diagnose a hōʻoia i ka maʻi, akā ʻaʻole makemake iki ʻia lākou.

ʻO ka pahuhopu o ka mālama ʻana e hoʻihoʻi i nā pae hormonone i ka maʻamau, a i ʻole kokoke i ka maʻamau. Hana ʻia kēia ma ke kiʻi ʻana i kahi ʻano o ka cortisol, pinepine pinepine i ka hydrocortisone. Pono paha ka poʻe i nā lāʻau hou aʻe i nā manawa o ke koʻikoʻi, e like me ka maʻi nui a i ʻole ke ʻoki ʻana.

E hoʻoholo ka mea hāʻawi i ka moekolohe a ka pēpē me nā genitalia ʻole ma ka nānā ʻana i nā chromosome (karyotyping). Hiki i nā kaikamahine me nā genital ke nānā aku ke hana ʻia i kā lākou genitalia i ka wā pēpē.

Hoʻohana nā steroid i mea e mālama ai i ka hyperplasia adrenal congenital ʻaʻole maʻa mau i nā hopena ʻē aʻe e like me ka momona a i ʻole nā ​​iwi nāwaliwali, no ka mea, pani nā pani i nā hone i hiki ʻole i ke kino o ke keiki ke hana. He mea nui i nā mākua ke hōʻike i nā hōʻailona o ka maʻi a me ke koʻikoʻi i ka mea hāʻawi i kā lākou keiki no ka mea pono paha i ke keiki he lāʻau hou aʻe. ʻAʻole hiki ke hoʻokū koke ʻia ʻo Steroids no ka mea ke hana pēlā i alakaʻi ʻia i ka lawa ʻole o adrenal.

Kōkua paha kēia mau hui:

• National Adrenal Diseases Foundation - www.nadf.us
• ʻO ka MAGIC Foundation - www.magicfoundation.org
• ʻO ka CARES Foundation - www.caresfoundation.org
• ʻAdrenal Insufficiency United - aiunited.org

Pono nā poʻe me kēia maʻi e lawe i ka lāʻau i ko lākou ola holoʻokoʻa. Loaʻa iā lākou ke olakino maikaʻi pinepine. Eia nō naʻe, ua ʻoi aku ka pōkole o lākou ma mua o nā mākua maʻamau, ʻoiai me ka lāʻau.

I kekahi mau hihia, hiki i ka hyperplasia adrenal congenital ke hoʻopili i ka momona.

Komo pū nā pilikia:

• Piʻi koko kiʻekiʻe
• Koko kōpaʻa haʻahaʻa
• Sodium haʻahaʻa

ʻO nā mākua me ka moʻolelo o ka ʻohana o ka hyperplasia adrenal congenital (o kēlā me kēia ʻano) a i ʻole kahi keiki i loaʻa ke ʻano e noʻonoʻo pono i nā ʻōlelo aʻo kūpuna.

Loaʻa ka ʻike Prenatal no kekahi ʻano hyperplasia adrenal congenital. Hana ʻia ka diagnostical i ka trimester mua e ka chorionic villus sampling. Kuhi ʻia ka diagnostics i ka trimester ʻelua e ke ana ʻana i nā hormoni e like me 17-hydroxyprogesterone i loko o ka wai amniotic.

Loaʻa kahi hōʻike loiloi hou no ka ʻano maʻamau o ka hyperplasia adrenal congenital. Hiki ke hana ʻia ma ke koko koʻokoʻo kuʻekuʻe (ma ke ʻano he ʻāpana o nā kānana maʻamau i hana ʻia i nā keiki hānau hou). Hana ʻia kēia hōʻike i kēia manawa ma ka hapanui o nā mokuʻāina.

Maʻi Adrenogenital; 21-hydroxylase nele; CAH

• Nānā adrenal

Donohoue PA. Nā maʻi o ka hoʻomohala moekolohe. I: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 606.

Yau M, Khattab A, Pina C, Yuen T, Meyer-Bahlburg HFL, New MI. Nā kīnā o androgen steroidogenesis. I: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Makua a Pediatric. ʻEpekema 7 Piladelapia, PA: Elsevier Saunders; 2016: chap 104.