Isifo seMcCune-Albright

Isifo iMcCune-Albright yisifo sofuzo esithinta amathambo, amahomoni, nombala wesikhumba.

IMcCune-Albright syndrome ibangelwa ukuguquka kwezakhi zofuzo ku- I-GNAS isakhi sofuzo. Inani elincane, kepha hhayi lonke, lamaseli omuntu aqukethe lolu hlobo lofuzo olungalungile (mosaicism).

Lesi sifo asizuzwa njengefa.

Uphawu olukhulu lweMcCune-Albright syndrome ukuqala ukuthomba emantombazaneni. Isikhathi sokuya esikhathini singaqala ebuntwaneni, kusasele isikhathi eside ngaphambi kokuba amabele noma izinwele ze-pubic zikhule (okuvame ukwenzeka kuqala). Isilinganiso seminyaka lapho kuvela khona izimpawu sineminyaka emithathu ubudala. Kodwa-ke, ukuthomba nokuphuma esikhathini kuya ezinyangeni ezine kuya kwezingu-6 emantombazaneni.

Ukuthuthuka kokuqala kwezocansi kungenzeka futhi kubafana, kepha hhayi kaningi njengasemantombazaneni.

Ezinye izimpawu zifaka:

• Ukuqhekeka kwamathambo
• Ukukhubazeka kwamathambo ebusweni
• Ubuciko obukhulu
• I-café au lait evulekile engajwayelekile, enkulu

Ukuhlolwa komzimba kungakhombisa izimpawu ze:

• Ukukhula kwamathambo okungavamile kugebhezi
• Isigqi senhliziyo esingajwayelekile (arrhythmias)
• I-Acromegaly
• Ubuciko obukhulu
• Izindawo ezinkulu ze-cafe-au-lait esikhunjeni
• Isifo sesibindi, i-jaundice, isibindi esinamafutha
• Izicubu ezinjenge-Scar ethanjeni (i-fibrous dysplasia)

Ukuhlolwa kungakhombisa:

• Ukungajwayelekile kwe-Adrenal
• Izinga eliphakeme le-hormone ye-parathyroid (hyperparathyroidism)
• Izinga eliphezulu le-hormone yegilo (hyperthyroidism)
• Ukungajwayelekile kwehomoni ye-adrenal
• Izinga eliphansi le-phosphorus egazini (i-hypophosphatemia)
• Ama-cysts ama-ovari
• Izidumba zepituitary noma ze-thyroid
• Izinga elingajwayelekile leprolactin yegazi
• Izinga lama-hormone okukhula angajwayelekile

Olunye uvivinyo olungenziwa lubandakanya:

• I-MRI yekhanda
• I-X-ray yamathambo

Ukuhlolwa kofuzo kungenziwa ukuqinisekisa ukuxilongwa.

Akukho ukwelashwa okuqondile kweMcCune-Albright syndrome. Izidakamizwa ezivimba ukukhiqizwa kwe-estrogen, njenge-testolactone, ziye zazanywa ngempumelelo ethile.

Ukungajwayelekile kwe-Adrenal (njengeCushing syndrome) kungaphathwa ngokuhlinzwa ukuze kususwe izindlala ze-adrenal. I-Gigantism ne-pituitary adenoma izodinga ukwelashwa ngemithi evimba ukukhiqizwa kwamahomoni, noma ngokuhlinzwa.

Ukungajwayelekile kwamathambo (i-fibrous dysplasia) kwesinye isikhathi kususwa ngokuhlinzwa.

Nciphisa inani lama-x-ray athathwe ezindaweni ezithintekile zomzimba.

Isikhathi sempilo sijwayelekile.

Izinkinga zingafaka:

• Ubumpumputhe
• Izinkinga zezimonyo ezivela ekuthambekeni kwethambo
• Izithulu
• I-Osteitis fibrosa cystica
• Ukuthomba ngaphambi kwesikhathi
• Ukuphinda amathambo aphukile
• Izimila zethambo (ezingavamile)

Shayela umhlinzeki wakho wezokunakekelwa kwezempilo uma ingane yakho iqala ukuthomba kusenesikhathi, noma inezinye izimpawu zeMcCune-Albright syndrome. Ukwelulekwa ngofuzo, futhi mhlawumbe nokuhlolwa kofuzo, kungaphakanyiswa uma kutholakala lesi sifo.

I-Polyostotic fibrous dysplasia

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

I-Garibaldi LR, uChemaitilly W. Ukuphazamiseka kokuthuthuka kokuzalwa. Ku: Kliegman RM, iSt.IGeme JW, iBlum NJ, i-Shah SS, i-Tasker RC, i-Wilson KM, ama-eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 578.

I-Styne DM. I-Physiology nokuphazamiseka kokuthomba. Ku: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, abahleli. Incwadi kaWilliams ye-Endocrinology. Umhlaka 14. IPhiladelphia, PA: Elsevier; 2020: isahluko 26.