Isifo seMcCune-Albright

Isifo iMcCune-Albright sisifo semfuza esichaphazela amathambo, iihomoni, kunye nombala wolusu.

Isifo seMcCune-Albright sibangelwa lutshintsho kwi I-GNAS Uhlobo. Inani elincinci, kodwa ayisiyiyo yonke, yeeseli zomntu ziqulathe lo mzimba ungalunganga (mosaicism).

Esi sifo asizuzwa njengelifa.

Olona phawu lubalulekileyo lweMcCune-Albright syndrome kukufikisa ngaphambi kwexesha kumantombazana. Ukuya exesheni kunokuqala ebuntwaneni, kude kudala ngaphambi kokuba amabele okanye iinwele ze-pubic zikhule (eziqhele ukwenzeka kuqala). Umyinge weminyaka obonakalisayo ukuba uneminyaka emi-3 ubudala. Nangona kunjalo, ukufikisa kunye nokuya exesheni kwenzekile kwangoko kwiinyanga ezi-4 ukuya kwezi-6 kumantombazana.

Ukukhula kwesondo kwangoko nako kunokwenzeka kumakhwenkwe, kodwa hayi rhoqo njengakwimantombazana.

Ezinye iimpawu zibandakanya:

• Ukuqhekeka kwamathambo
• Ukukhubazeka kwamathambo ebusweni
• Ubuchule
• Indawo yokutyela engaqhelekanga, enkulu enamabala amdaka

Uviwo lomzimba lunokubonisa iimpawu zoku:

• Ukukhula kwamathambo ngokungaqhelekanga
• Iingqungquthela zentliziyo engaqhelekanga (arrhythmias)
• Isiseko
• Ubuchule
• Iindawo ezinkulu ze-cafe-au-lait esikhumbeni
• Isifo sesibindi, i-jaundice, isibindi esinamafutha
• Izicubu ezinjengebhola kwithambo (i-fibrous dysplasia)

Uvavanyo lunokubonisa:

• Ukungaqhelekanga kwe-Adrenal
• Inqanaba eliphezulu lehomoni yeparathyroid (hyperparathyroidism)
• Inqanaba eliphezulu lehomoni yedlala lengqula (hyperthyroidism)
• Ukungaqheleki kwehomoni yeadrenal
• Inqanaba eliphantsi le-phosphorus egazini (hypophosphatemia)
• Ii-cysts ze-Ovarian
• Izibilini ze-Pituitary okanye ze-thyroid
• Inqanaba leprolactin yegazi engaqhelekanga
• Inqanaba lokukhula ngokungaqhelekanga

Olunye uvavanyo olunokwenziwa lunokubandakanya:

• I-MRI yentloko
• IX-reyi yamathambo

Uvavanyo lwemfuzo lunokwenziwa ukuqinisekisa isifo.

Akukho lonyango oluthile lweMcCune-Albright syndrome. Iziyobisi ezithintela ukuveliswa kwe-estrogen, njenge-testolactone, ziye zazanywa ngempumelelo ethile.

Ukungaqhelekanga kwe-Adrenal (njenge-Cushing syndrome) kunokunyangwa ngotyando ukususa i-adrenal gland. I-Gigantism kunye ne-pituitary adenoma ziya kufuna ukunyangwa ngamayeza athintela ukuveliswa kwehomoni, okanye ngotyando.

Ukungaqhelekanga kwethambo (i-fibrous dysplasia) ngamanye amaxesha kuyasuswa kuqhaqho.

Nciphisa inani le-x-reyi ezithathiweyo kwiindawo ezichaphazelekayo zomzimba.

Ubomi bempilo buqhelekile.

Iingxaki zinokubandakanya:

• Ubumfama
• Iingxaki zokuthambisa ezivela ekungaqhelekanga kwethambo
• Izithulu
• I-Osteitis fibrosa cystica
• Ukufikisa ngaphambi kwexesha
• Ukuphindaphinda amathambo aphukileyo
• Ukudumba kwethambo (kunqabile)

Fowunela umboneleli wakho wezempilo ukuba umntwana wakho uqala ukufikisa kwangethuba, okanye unezinye iimpawu zeMcCune-Albright syndrome. Ingcebiso ngemfuzo, kwaye nokuvavanywa kwemfuza, kunokucetyiswa ukuba isifo sifunyenwe.

I-Polyostotic fibrous dysplasia

• Ngaphambili i-anatomy yamathambo
• I-Neurofibromatosis-indawo enkulu ye-cafe-au-lait

I-Garibaldi LR, i-Chemaitilly W.Ukuphazamiseka kwengqondo ekuphuhliseni. Ku: Kliegman RM, eSt.Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 578.

Isyne DM. I-Physiology kunye nokuphazamiseka kokufikisa. Ku: UMelmed S, uAuchus RJ, uGoldfine AB, uKoenig RJ, uRosen CJ, ii-eds. Incwadi ebhaliweyo kaWilliam ye-Endocrinology. Umhla we-14. IPhiladelphia, PA: Elsevier; 2020: isahluko 26.