ʻO ka maʻi maʻi ʻo McCune-Albright

ʻO McCune-Albright Syndrome kahi maʻi maʻi e hoʻopili i nā iwi, nā homone, a me ke kala (pigmentation) o ka ʻili.

Hoʻokumu ʻia ʻo McCune-Albright Syndrome e ka hoʻololi ʻana i ka ʻO GNAS ʻāpana ʻO kahi helu liʻiliʻi, akā ʻaʻole nā ​​mea āpau o ke kanaka i loko o kēia hewa hewa (mosaicism).

ʻAʻole hoʻoilina kēia maʻi.

ʻO ka hōʻailona nui o ka maʻi ʻo McCune-Albright ka wā ʻōpio i nā kaikamahine. E hoʻomaka paha nā wā Menstrual i ka wā kamaliʻi, ma mua o ka ulu ʻana o ka umauma a i ʻole ka lauoho pubic (kahi e hana mua ʻia ai. ʻO ka makahiki maʻamau e ʻike ʻia nā ʻōuli he 3 mau makahiki. Eia nō naʻe, ua ulu ka ʻōpio a me ke kahe o ka wā ma mua o 4 a 6 mau mahina i nā kaikamahine.

Hiki ke ulu i ka moekolohe ma mua i nā keikikāne, akā ʻaʻole pinepine e like me nā kaikamahine.

ʻO nā ʻōuli ʻē aʻe e like me:

• Haki iwi
• Nā hiʻohiʻona o nā iwi i ka maka
• Gigantism
• Kūpono ʻole, nui ka cafe kulu maʻa mau wahi

Hiki i kahi hoʻokolokolo kino ke hōʻike i nā hōʻailona o:

• Ka ulu iwi maʻamau i ka iwi poʻo
• Rhythm puʻuwai maʻamau (arrhythmia)
• ʻAcromegaly
• Gigantism
• ʻO nā wahi cafe-au-lait nui ma ka ʻili
• ʻO ka maʻi akepaʻa, jaundice, ake momona
• Iwi-e like me kaʻaʻaʻa i ka iwi (fibrous dysplasia)

Hōʻike paha nā hōʻike:

• Nā hana kūpono adrenal
• ʻO ke kiʻekiʻe o ka hormone parathyroid (hyperparathyroidism)
• ʻO ke kiʻekiʻe o ka hormone thyroid (hyperthyroidism)
• Nā hana kūpono o ka hormon adrenal
• Low pae o ka phosphorous i loko o ke koko (hypophosphatemia)
• ʻO nā cyst ovarian
• ʻO nā pituitary a hikoko thyroid
• Ka pae prolactin koko ʻole
• Pae hormonone ulu maʻamau

Nā hoʻokolohua ʻē aʻe i hana ʻia e hoʻopili ʻia:

• MRI o ke poʻo
• X-kukuna o nā iwi

Hana ʻia paha ka hoʻāʻo genetic e hōʻoia i ka ʻike.

ʻAʻohe mālama pilikino no ka maʻi ʻo McCune-Albright. ʻO nā lāʻau e ālai ana i ka hana estrogen, e like me testolactone, ua hoʻāʻo ʻia me kahi kūleʻa.

Adrenal abnormalities (e like me Cushing maʻi pale) hiki ke mālama ʻia me ka ʻoki ʻana e lawe aku i nā adrenal glands. Pono e mālama ʻia ka Gigantism a me ka pituitary adenoma me nā lāʻau e ālai ana i ka hana ʻana o ka hormone, a i ʻole me ke ʻoki.

Wehe ʻia nā iwi ʻōiwi (fibrous dysplasia) i kekahi manawa me ke ʻoki.

Ka palena o ka nui o nā kukuna i lawe ʻia o nā wahi i pā o ke kino.

He mea maʻamau ke ola.

Komo pū nā pilikia:

• Makapō
• Nā pilikia Cosmetic mai nā pono ʻole o ka iwi
• Kuli ke kuli
• Osteitis fibrosa cystica
• ʻO ka wā ʻōpio ʻōpio
• Nā iwi haʻihaʻi hou
• Nā Tumors o ka iwi (rare)

Kāhea i kāu mea mālama ola inā hoʻomaka kāu keiki i ka wā ʻōpio, a i ʻole he mau hōʻailona ʻē aʻe o ka maʻi maʻi ʻo McCune-Albright. ʻ belelo aʻoaʻo genetic, a maliʻa paha hoʻāʻo genetic, e ʻōlelo ʻia inā ʻike ʻia ka maʻi.

ʻO ka dysplasia fibrosus fibrosus

• Anatomy iwi mua
• Neurofibromatosis - kahi cafe nui-a-lait launa

Garibaldi LR, Chemaitilly W. Nā maʻi o ka ulu ʻana o ka pubertal. 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 578.

ʻO Styne DM. Physiology a me nā maʻi o ka wā ʻōpio. I: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. ʻO Williams Textbook of Endocrinology. 14th ed. Piladelapia, PA: Elsevier; 2020: chap 26.