Isifo seMenkes

Isifo seMenkes yisifo esizuzwe njengefa lapho umzimba unenkinga yokumunca ithusi. Lesi sifo sithinta ukukhula, kokubili ngokwengqondo nangokomzimba.

Isifo seMenkes sibangelwa ukukhubazeka ku- I-ATP7A isakhi sofuzo. Ukukhubazeka kwenza kube nzima emzimbeni ukusabalalisa (ukuthutha) ithusi ngokufanele emzimbeni wonke. Ngenxa yalokhu, ubuchopho nezinye izitho zomzimba azilutholi ubhedu olwanele, kuyilapho zakha emathunjini amancane nasezinso. Izinga lethusi eliphansi lingathinta ukwakheka kwethambo, isikhumba, izinwele, nemithambo yegazi, liphazamise nokusebenza kwezinzwa.

IMenkes syndrome ivame ukuzuzwa njengefa, okusho ukuthi isebenza emindenini. Isakhi sofuzo sise-X-chromosome, ngakho-ke uma umama ephethe isakhi sofuzo esingalungile, indodana yakhe ngayinye inethuba lama-50% (1 koku-2) lokuthola lesi sifo, kanti amadodakazi akhe angama-50% azoba othwala lesi sifo . Lolu hlobo lwefa lofuzo lubizwa ngokuthi yi-X-linked exessive.

Kwabanye abantu, lesi sifo asizuzwa njengefa. Esikhundleni salokho, ukukhubazeka kofuzo kukhona ngesikhathi umntwana ekhulelwa.

Izimpawu ezijwayelekile zesifo seMenkes ezinganeni yilezi:

• Izinwele ezi-Brittle, kinky, steely, sparse, noma eziminyene
• Izidudla, izihlathi ezicwebezelayo, isikhumba sobuso esixegayo
• Ukondla ubunzima
• Ukuthukuthela
• Ukungabi nethoni yemisipha, ukuqina
• Izinga lokushisa lomzimba eliphansi
• Ukukhubazeka kwengqondo kanye nokubambezeleka kwentuthuko
• Ukuquleka
• Izinguquko zamathambo

Lapho kusolakala ukuthi isifo seMenkes, ukuhlolwa okungenziwa kufaka:

• Ukuhlolwa kwegazi leCeruloplasmin (into ehambisa ithusi egazini)
• Ukuhlolwa kwegazi lethusi
• Isiko lesikhumba lesikhumba
• I-X-ray yamathambo noma i-x-ray yogebhezi
• Ukuhlolwa kwezakhi zofuzo ukuhlola ukukhubazeka kwe- I-ATP7A isakhi sofuzo

Ukwelashwa kuvame ukusiza kuphela lapho kuqalwa kusenesikhathi kakhulu ekuqhubekeni kwesifo. Imijovo yethusi emthanjeni noma ngaphansi kwesikhumba isetshenziswe ngemiphumela exubile futhi kuya ngokuthi i I-ATP7A I-gene isenomsebenzi othile.

Lezi zinsizakusebenza zinganikeza imininingwane eminingi nge-Menkes syndrome:

• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org/rare-diseases/menkes-disease
• Isethenjwa Sasekhaya se-NIH / NLM - ghr.nlm.nih.gov/condition/menkes-syndrome

Iningi lezingane ezinalesi sifo zifa eminyakeni embalwa yokuqala yokuphila.

Khuluma nomhlinzeki wakho wezokunakekelwa kwezempilo uma unomlando womndeni we-Menkes syndrome futhi uhlela ukuba nezingane. Ingane enalesi sifo izovame ukukhombisa izimpawu zisencane.

Bheka umeluleki wezofuzo uma ufuna ukuba nezingane futhi unomlando womndeni we-Menkes syndrome. Izihlobo zomama (izihlobo ezisohlangothini lomama womndeni) zomfana onalesi sifo kufanele zibonwe ngofuzo ukuthola ukuthi ngabe bangabathwali yini.

Isifo sezinwele esisheshayo; Isifo sezinwele iMenkes kinky; Isifo sezinwele seKinky; Isifo sokuthutha ngethusi; I-Trichopoliodystrophy; Ukushoda kwethusi okuxhunywe ku-X

• I-Hypotonia

I-Kwon JM. Izinkinga ze-Neurodegenerative zobuntwana. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah, SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 617.

I-Turnpenny PD, u-Ellard S. Amaphutha wokuzalwa we-metabolism. Ku: Turnpenny PD, Ellard S, eds. Izinto zika-Emery ze-Medical Genetics. Umhla ka-15. IPhiladelphia, PA: Elsevier; 2017: isahluko 18.