McCune-Albright chirwere

McCune-Albright syndrome chirwere chemajini chinokanganisa mapfupa, mahormone, uye ruvara (pigmentation) yeganda.

McCune-Albright syndrome inokonzerwa nekuchinja mune GNAS geni. Chiverengero chidiki, asi kwete chese, chemasero emunhu chine ichi chisina kukwana gene (mosaicism).

Ichi chirwere hachina kugarwa nhaka.

Chiratidzo chikuru cheMcCune-Albright syndrome kutanga kuyaruka muvasikana. Nguva dzekuenda kumwedzi dzinogona kutanga achiri mudiki, mazamu kana vhudzi risati rasvika (izvo zvinowanzoitika pakutanga). Ivhareji zera iyo zviratidzo zvinoonekwa ndeye makore matatu ekuberekwa. Nekudaro, kuyaruka uye kubuda kumwedzi kubuda kwakaitika kutanga mwedzi mina kusvika kumitanhatu muvasikana.

Kukura kwepabonde kwekutanga kunogona kuitikawo muvakomana, asi kwete kazhinji sevasikana.

Zvimwe zviratidzo zvinosanganisira:

• Bone kutsemuka
• Kuremara kwemapfupa kumeso
• Gigantism
• Isina kujairika, hombe patchy cafe kana lait mavara

Kuongorora kwepanyama kunogona kuratidza zviratidzo zve:

• Isina kujairika pfupa kukura mudehenya
• Asina kujairika moyo mutsi (arrhythmias)
• Acromegaly
• Gigantism
• Yakakura cafe-au-lait mavara paganda
• Chiropa chirwere, jaundice, mafuta chiropa
• Mavara-akafanana netishu mupfupa (fibrous dysplasia)

Miedzo inogona kuratidza:

• Adrenal kusagadzikana
• Yakakwira mwero weparathyroid hormone (hyperparathyroidism)
• Yakakwira nhanho yehormone hormone (hyperthyroidism)
• Adrenal hormone kusakwana
• Chikamu chakaderera chephosphorus muropa (hypophosphatemia)
• Ovarian cysts
• Pituitary kana thyroid mamota
• Asina kujairika eropa prolactin mwero
• Kusanzwisisika kukura kwehomoni mwero

Mimwe bvunzo inogona kuitwa inosanganisira:

• MRI yemusoro
• X-ray yemapfupa

Genetic kuyedza kunogona kuitwa kusimbisa kuongororwa.

Iko hakuna chaiwo kurapwa kweMcCune-Albright syndrome. Mishonga inovhara kugadzirwa kweestrogen, senge testolactone, yakaedzwa pamwe nekubudirira.

Adrenal kusagadzikana (senge Cushing syndrome) inogona kurapwa nekuvhiyiwa kubvisa adrenal gland. Gigantism uye pituitary adenoma inoda kurapwa nemishonga inovhara kugadzirwa kwehomoni, kana nekuvhiya.

Bone kusakanganiswa (fibrous dysplasia) dzimwe nguva inobviswa nekuvhiyiwa.

Deredza huwandu hwema x-ray anotorwa enzvimbo dzakakanganiswa nemuviri.

Hupenyu hupenyu hwakajairika.

Zvinetso zvinogona kusanganisira:

• Bofu
• Matambudziko ekuzora kubva pamapfupa asina kujairika
• Matsi
• Osteitis fibrosa cystica
• Kukurumidza kukura
• Akadzokorora akavhunika mapfupa
• Bundu repfupa (zvisingawanzo)

Fonera wako mupi wezvehutano kana mwana wako akatanga kuyaruka kutanga, kana ane zvimwe zviratidzo zveMcCune-Albright syndrome Genetic counselling, uye pamwe kuongororwa kwemajini, kunogona kutaurwa kana chirwere chikaonekwa.

Polyostotic fibrous dysplasia

• Anterior skeletal anatomy
• Neurofibromatosis - hofori cafe-au-lait nzvimbo

Garibaldi LR, Chemaitilly W. Kukanganisika kwekukura kwehukama. Mu: Kliegman RM, St.Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chitsiko 578.

Styne DM. Physiology uye kusagadzikana kwekuyaruka. Mune: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Chinyorwa cheEndocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020: chitsiko 26.