Isifo seMenkes

Isifo seMenkes sisifo esizuzwe njengelifa apho umzimba unengxaki yokufunxa ubhedu. Esi sifo sichaphazela ukukhula, ngokwengqondo nangokwasemzimbeni.

Isifo seMenkes sibangelwa sisiphene kwifayile ye- I-ATP7A Uhlobo. Isiphene senza ukuba kube nzima emzimbeni ukuba usasaze ngokufanelekileyo (uthutho) ubhedu kuwo wonke umzimba. Ngenxa yoko, ingqondo kunye nezinye iinxalenye zomzimba azifumani bhedu lwaneleyo, ngelixa zisakha emathunjini amancinci nasezintso. Inqanaba lobhedu elisezantsi linokuchaphazela ubume bethambo, ulusu, iinwele, kunye nemithambo yegazi, kunye nokuphazamisa ukusebenza kwentliziyo.

I-Menkes syndrome ihlala izuzwa njengelifa, oko kuthetha ukuba isebenza kwiintsapho. Imfuza ikwi-X-chromosome, ke ukuba umama uphethe i-gene enesiphene, unyana wakhe ngamnye unama-50% (1 ko-2) ithuba lokuphuhlisa esi sifo, kwaye iipesenti ezingama-50 zeentombi zakhe ziya kuba sisiphatho sesi sifo . Olu hlobo lwelifa lemfuza libizwa ngokuba li-X-linxibelelene kwakhona

Kwabanye abantu, esi sifo asizuzwa njengelifa. Endaweni yoko, isiphene semfuza sikhona ngexesha lokukhulelwa kosana.

Iimpawu eziqhelekileyo zesifo seMenkes kwiintsana zezi:

• I-Brittle, kinky, steely, sparse, okanye iinwele ezixineneyo
• I-Pudgy, izidlele eziqaqambileyo, ulusu lobuso olusebenzayo
• Ubunzima bokutya
• Ukucaphuka
• Ukunqongophala kwethoni yezihlunu, ukungqubana
• Ubushushu obuphantsi bomzimba
• Ukukhubazeka kwengqondo kunye nokulibaziseka kophuhliso
• Ukuxhuzula
• Utshintsho lwamathambo

Nje ukuba kukrokrelwe isifo seMenkes, iimvavanyo ezinokwenziwa zibandakanya:

• Uvavanyo lwegazi lweCeruloplasmin (into ehambisa ubhedu egazini)
• Uvavanyo lwegazi lobhedu
• Inkcubeko yeseli yolusu
• I-X-ray yamathambo okanye i-x-ray yokakayi
• Ukuvavanywa kwe-Gene ukukhangela isiphene se- I-ATP7A Uhlobo

Unyango ngokuqhelekileyo lunceda kuphela xa uqalise kwangethuba kakhulu kwesi sifo. Inaliti zobhedu emthanjeni okanye phantsi kolusu zisetyenzisiwe kunye neziphumo ezixubeneyo kwaye kuxhomekeke ekubeni I-ATP7A I-gene isenomsebenzi othile.

Ezi zixhobo zinokubonelela ngolwazi oluthe kratya kwiMenkes syndrome:

• Umbutho weSizwe weengxaki zoRare- rarediseases.org/rare-diseases/menkes-disease
• Isalathiso sasekhaya se-NIH / NLM yemfuzo - ghr.nlm.nih.gov/condition/menkes-syndrome

Uninzi lwabantwana abanesi sifo bafa kwiminyaka embalwa yokuqala yobomi.

Thetha nomboneleli wakho wezempilo ukuba unembali yosapho yeMenkes syndrome kwaye uceba ukuba nabantwana. Umntwana onale meko uhlala ebonisa iimpawu kwasekuqaleni ebusaneni.

Jonga umcebisi wemfuza ukuba ufuna ukuba nabantwana kwaye unembali yosapho yesifo seMenkes. Izalamane zoomama (izalamane kwicala lomama losapho) lenkwenkwe enale syndrome kufuneka ibonwe ngumfuzeli wemfuza ukufumanisa ukuba ingaba baphethe na.

Isifo seenwele ezizinzileyo; Isifo seenwele esineenkinki; Isifo seenwele seKinky; Isifo sezothutho; Trichopoliodystrophy; Ukunqongophala kobhedu kwe-X

• IHypotonia

Kwon JM. Ukuphazamiseka kwengqondo kwi-neurodeergenerative yobuntwana. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah, SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 617.

I-Turnpenny PD, i-Ellard S. Iimpazamo zokuzalwa zemetabolism. Ku: Turnpenny PD, Ellard S, ii-eds. Izinto ze-Emery ze-Medical Genetics. Ngomhla we-15. IPhiladelphia, PA: Elsevier; Ngo-2017: isahluko 18.