Isifo seGaucher

Isifo seGaucher sisifo esingaqhelekanga semfuza apho umntu engenayo i-enzyme ebizwa ngokuba yi-glucocerebrosidase (GBA).

Isifo seGaucher sinqabile kubemi ngokubanzi. Abantu baseMpuma nakuMbindi weYurophu (Ashkenazi) ilifa lemveli lamaJuda kusenokwenzeka ukuba banesi sifo.

Sisifo esihamba sodwa esinezixhobo ezizenzekelayo. Oku kuthetha ukuba umama notata bobabini kufuneka badlulisele ikopi enye engaqhelekanga yesifo kumntwana wabo ukuze umntwana abe nesi sifo. Umzali ophethe ikopi engaqhelekanga yemfuza kodwa engenaso isifo kuthiwa ngumntu ophetheyo ongathethiyo.

Ukunqongophala kwe-GBA kubangela ukuba izinto ezinobungozi zakhiwe kwisibindi, udakada, amathambo kunye nomongo wethambo. Ezi zinto zithintela iiseli kunye namalungu ekusebenzeni ngokufanelekileyo.

Zintathu iindidi eziphambili zesifo sikaGaucher:

• Uhlobo lwe-1 luxhaphake kakhulu. Kubandakanya isifo samathambo, i-anemia, ipeni eyandisiweyo kunye neeplatelets ezisezantsi (thrombocytopenia). Uhlobo lwe-1 luchaphazela abantwana kunye nabantu abadala. Kuqheleke kakhulu kubemi bama-Ashkenazi.
• Uhlobo lwe-2 luhlala luqala ebusaneni ngokubandakanyeka kakhulu kwi-neurologic. Le fomu inokukhokelela ekuswelekeni okukhawulezileyo, kwangoko.
• Uhlobo lwe-3 lunokubangela iingxaki zesibindi, udakada, kunye nengqondo. Abantu abanolu hlobo banokuhlala ebudaleni.

Ukopha ngenxa yokubala kweplatelet esezantsi yeyona mpawu ixhaphakileyo ebonwa sisifo sikaGaucher. Ezinye iimpawu zingabandakanya:

• Intlungu yethambo kunye nokwaphuka
• Ukuphazamiseka kwengqondo (ukunciphisa amandla okucinga)
• Ukutyumza okulula
• Ipeni eyandisiweyo
• Ukwandiswa kwesibindi
• Ukudinwa
• Iingxaki zevalvu zentliziyo
• Isifo semiphunga (sinqabile)
• Ukuxhuzula
• Ukudumba okunzima xa kuzalwa
• Ulusu luyatshintsha

Umboneleli wezempilo uya kwenza uvavanyo lomzimba kwaye abuze malunga neempawu.

Olu vavanyo lulandelayo lunokwenziwa:

• Uvavanyo lwegazi ukukhangela umsebenzi we-enzyme
• Umnqweno wethambo
• Biopsy udakada
• IMRI
• CT
• X-ray yamathambo
• Uvavanyo lwemfuzo

Isifo seGaucher asinakuphiliswa. Kodwa unyango lunokunceda ukulawula kwaye lunokuphucula iimpawu.

Amayeza anokunikwa:

• Faka endaweni ye-GBA elahlekileyo (unyango olungena endaweni ye-enzyme) ukunceda ukunciphisa ubungakanani bespen, iintlungu zethambo, kunye nokuphucula i-thrombocytopenia.
• Nciphisa ukuveliswa kweekhemikhali ezinamafutha ezakhayo emzimbeni.

Olunye unyango lubandakanya:

• Amayeza entlungu
• Utyando lweengxaki zethambo kunye nokudibana, okanye ukususa udakada
• Utofelo-gazi

La maqela anokubonelela ngolwazi oluthe kratya malunga nesifo seGaucher:

• Isiseko seSizwe seGaucher- www.gaucherdisease.org
• ILayibrari yeSizwe yezoNyango, isalathiso sasekhaya seGenetics - ghr.nlm.nih.gov/condition/gaucher-disease
• Umbutho weSizwe wezifo ezinqabileyo-ararediseases.org/rare-diseases/gaucher-disease

Ukusebenza kakuhle komntu kuxhomekeke kudidi lwesi sifo. Uhlobo lweentsana lwesifo sikaGaucher (Uhlobo lwe-2) lunokukhokelela ekufeni kwangoko. Uninzi lwabantwana abachaphazelekayo bafa ngaphambi kweminyaka emihlanu.

Abantu abadala abanoluhlobo lwe-1 lwesifo seGaucher banokulindela ixesha eliqhelekileyo lokuphila kunye nonyango lokutshintsha i-enzyme.

Iingxaki zesifo sikaGaucher zingabandakanya:

• Ukuxhuzula
• Ukunqongophala kwegazi
• I-Thrombocytopenia
• Iingxaki zamathambo

Ukucebisa ngemfuza kuyacetyiswa kwabo banokuba ngabazali abanembali yosapho yesifo seGaucher. Ukuvavanywa kunokumisela ukuba ngaba abazali baphethe ufuzo olunokudlula kwisifo seGaucher. Uvavanyo lwaphambi kokubeleka lunokuxela nokuba umntwana osesibelekweni une-Gaucher syndrome.

Ukusilela kweGlucocerebrosidase; Ukusilela kweGlucosylceramidase; Ukugcinwa kwesifo seLysosomal - iGaucher

• Umnqweno wethambo
• Iseli yeGaucher-ifoto ye-photomic
• Iseli yeGaucher- ifoto ye-photomicrograph # 2
• I-Hepatosplenomegaly

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I-Krasnewich DM, iSidransky E. Izifo zokugcina iLysosomal. Ku: IGoldman L, iSchafer AI, ii-eds. Amayeza eGoldman-Cecil. Ngomhla wama-26. IPhiladelphia, PA: Elsevier; 2020: isahl. 197.

I-Turnpenny PD, i-Ellard S, i-Cleaver R. Iimpazamo zokuzalwa zemetabolism. Ku: Turnpenny PD, Ellard S, Cleaver R, ii-eds. Izinto ze-Emery ze-Medical Genetics kunye neGenomics. Ngomhla we-16. IPhiladelphia, PA: Elsevier; 2022: isahluko 18.