McCune-Albright syndrome

McCune-Albright syndrome yog kab mob caj ces uas cuam tshuam rau cov pob txha, cov tshuaj hormones, thiab xim (pigmentation) ntawm daim tawv nqaij.

McCune-Albright syndrome yog tshwm sim los ntawm kev hloov pauv hauv lub GNAS noob. Tus lej me me, tab sis tsis yog txhua tus ntawm tus neeg lub hlwb muaj qhov noob tsis zoo no (mosaicism).

Tus kab mob no tsis yog muaj raws caj ces.

Cov tsos mob tseem ceeb ntawm McCune-Albright syndrome yog kev nkauj nraug thaum ntxov hauv cov ntxhais. Kev coj khaub ncaws pib thaum me nyuam yaus, ntev ua ntej lub mis lossis cov plaub hau zes (uas ib txwm tshwm sim thawj zaug). Lub hnub nyoog nruab nrab uas cov tsos mob tshwm sim yog 3 xyoos. Li cas los xij, kev pub dawb thiab lub cev ntas ntshav tau tshwm sim thaum ntxov li 4 txog 6 hlis rau cov menyuam ntxhais.

Kev loj hlob ntawm kev sib deev thaum ntxov kuj tseem yuav tshwm sim hauv cov tub, tab sis tsis yog ntau npaum li tus ntxhais.

Lwm cov tsos mob muaj xws li:

• Cov pob txha lov
• Kev puas tsuaj ntawm cov pob txha ntsej muag
• Gigantism
• Tsis xwm yeem, thaj chaw deb loj café au lait me ntsis

Kev kuaj mob lub cev yuav qhia tias:

• Kev ua pob txha tsis meej pem hauv pob txha taub hau
• Mob lub plawv tsis zoo (rhais ruam)
• Acromegaly
• Gigantism
• Loj café-au-lait cov tawv nqaij me
• Cov kab mob siab, mob daj, cov rog ua haujlwm
• Caws pliav-zoo li nqaij hauv cov pob txha (fibrous dysplasia)

Cov kev kuaj yuav qhia:

• Adrenal tsis zoo
• Qib theem ntawm parathyroid hormone (hyperparathyroidism)
• Theem ntawm cov thyroid hormones txaus (hyperthyroidism)
• Adrenal hormone ntau ntau
• Qib phosphorous nyob rau hauv cov ntshav (hypophosphatemia)
• Cov hlwv ntawm zes qe menyuam
• Cov qog Pituitary lossis qog
• Qeb ntshav prolactin ntau ntau
• Qeb kev tsis txaus loj hlob theem

Lwm yam kev xeem uas yuav muaj xws li:

• MRI ntawm lub taub hau
• Xoo hluav taws xob ntawm cov pob txha

Kev kuaj txog keeb los ntawm caj ces yuav ua tau kom paub meej tias yog kuaj.

Tsis muaj kev kho tshwj xeeb rau McCune-Albright syndrome. Cov tshuaj uas thaiv cov estrogen ntau lawm, xws li testolactone, tau sim nrog qee qhov kev ua tiav.

Cov qog adrenal ua haujlwm zoo (xws li mob Cushing syndrome) tuaj yeem kho nrog kev phais mob kom tshem tawm cov qog adrenal. Gigantism thiab pituitary adenoma yuav tsum tau kho nrog cov tshuaj uas thaiv cov tshuaj hormone ntau lawm, lossis nrog phais.

Cov pob txha ua haujlwm hauv lub cev (fibrous dysplasia) qee zaum raug tshem tawm nrog kev phais mob.

Txwv tsawg tus naj npawb ntawm xoo hluav taws xob coj los ntawm cov chaw cuam tshuam ntawm lub cev.

Lifespan kuj yog qhov qub.

Teeb meem yuav suav nrog:

• Dig muag
• Cov teeb meem tshuaj pleev ib ce los ntawm pob txha tsis zoo
• Cov lag ntseg
• Osteitis fibrosa cystica
• Lub sij hawm pub dawb
• Rov qog pob txha
• Lub qog ntawm cov pob txha (tsis tshua muaj)

Hu koj tus kws kho mob yog tias koj tus me nyuam pib tiav nkauj tiav nraug ntxov, lossis muaj lwm cov tsos mob ntawm McCune-Albright syndrome. Kev tawm tswv yim txog kev kho caj ces, thiab tej zaum yuav sim tshuaj ntsuam caj, yuav qhia tau yog tias kuaj tau tus kab mob.

Cov roj ntsha ua rau mob polyostotic

• Lub cev nqaij xub thawj cev pob txha
• Neurofibromatosis - mob nqaij nyuj loj heev-au-lait

Garibaldi LR, Chemaitilly W. Kev ua tsis ncaj ncees ntawm kev nthuav dav pubertal. Hauv: Kliegman RM, St.Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: chap 578.

Styne DM. Lub tswv yim ua haujlwm thiab cuam tshuam ntawm kev ua tiav. Hauv: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Phau Ntawv ntawm EndocrinologyCov. Xab 14th. Philadelphia, PA: Elsevier; 2020: chap 26.