Isifo se-Gaucher

Isifo i-Gaucher isifo esingajwayelekile sezakhi zofuzo lapho umuntu engenayo i-enzyme ebizwa nge-glucocerebrosidase (GBA).

Isifo seGaucher asivamile emphakathini jikelele. Abantu base-Eastern and Central European (Ashkenazi) amagugu amaJuda maningi amathuba okuba babe nalesi sifo.

Kuyisifo se-autosomal recessive. Lokhu kusho ukuthi umama nobaba kumele bobabili badlulisele ikhophi eyodwa engafanele yesakhi sofuzo enganeni yabo ukuze ingane ithole lesi sifo. Umzali ophatha ikhophi engajwayelekile yesakhi kodwa engenaso lesi sifo ubizwa ngokuthi yisithwali esithule.

Ukuntuleka kwe-GBA kubangela izinto eziyingozi ukwakha esibindini, ubende, amathambo nomnkantsha wethambo. Lezi zinto zivimbela amaseli nezitho ekusebenzeni kahle.

Kunezinhlobo ezintathu ezinkulu zesifo seGaucher:

• Uhlobo 1 luvame kakhulu. Kubandakanya isifo samathambo, i-anemia, ubende obukhulisiwe nama-platelet aphansi (i-thrombocytopenia). Uhlobo lwe-1 luthinta izingane kanye nabantu abadala. Kuvame kakhulu kubantu base-Ashkenazi abangamaJuda.
• Uhlobo lwe-2 luvame ukuqala ebuntwaneni ngokubandakanyeka okunzima kwe-neurologic. Leli fomu lingaholela ekufeni okusheshayo, ngaphambi kwesikhathi.
• Uhlobo lwe-3 lungadala izinkinga zesibindi, ubende nezinkinga zobuchopho. Abantu abanalolu hlobo bangaphila ebudaleni.

Ukopha ngenxa yokubalwa kweplatelet eliphansi kuyisifo esivame kakhulu ukubonwa kwisifo seGaucher. Ezinye izimpawu zingafaka:

• Ubuhlungu bamathambo nokuqhekeka
• Ukukhubazeka kwengqondo (kunciphise ikhono lokucabanga)
• Ukulinyazwa okulula
• Ubende obukhulisiwe
• Isibindi esandisiwe
• Ukukhathala
• Izinkinga ze-valve yenhliziyo
• Isifo samaphaphu (esingavamile)
• Ukuquleka
• Ukuvuvukala okukhulu lapho kuzalwa
• Izinguquko zesikhumba

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba abuze ngezimpawu.

Ukuhlolwa okulandelayo kungenziwa:

• Ukuhlolwa kwegazi ukubheka umsebenzi we-enzyme
• Ukufiswa komnkantsha wethambo
• I-biopsy yobende
• I-MRI
• I-CT
• I-X-ray yamathambo
• Ukuhlolwa kofuzo

Isifo se-Gaucher asikwazi ukwelashwa. Kepha ukwelashwa kungasiza ekulawuleni futhi kungathuthukisa izimpawu.

Imithi inganikezwa:

• Faka esikhundleni se-GBA elahlekile (i-enzyme replacement therapy) ukusiza ukunciphisa usayizi wobende, ubuhlungu bamathambo, nokwenza ngcono i-thrombocytopenia.
• Nciphisa ukukhiqizwa kwamakhemikhali anamafutha akha emzimbeni.

Ezinye izindlela zokwelapha zifaka:

• Imithi yezinhlungu
• Ukuhlinzwa ngezinkinga zamathambo nezamalungu, noma ukususa ubende
• Ukumpontshelwa igazi

La maqembu anganikeza imininingwane eminingi ngesifo seGaucher:

• Isisekelo seNational Gaucher Foundation - www.gaucherdisease.org
• Umtapo Wezincwadi Kazwelonke Wezokwelapha, Isethenjwa Sasekhaya Sofuzo - ghr.nlm.nih.gov/condition/gaucher-disease
• Inhlangano Kazwelonke Yezifo Ezingavamile - rarediseases.org/rare-diseases/gaucher-disease

Ukuthi umuntu wenza kahle kangakanani kuncike ohlokweni lwesifo sakhe. Uhlobo lwesifo se-Gaucher (Uhlobo 2) olungelona usana lungaholela ekufeni kusenesikhathi. Iningi lezingane ezithintekayo zifa ngaphambi kweminyaka engu-5.

Abantu abadala abanohlobo lwesi-1 sesifo se-Gaucher bangalindela isikhathi esijwayelekile sokuphila nge-enzyme therapy esikhundleni.

Izinkinga zesifo seGaucher zingafaka:

• Ukuquleka
• Ukushoda kwegazi
• I-Thrombocytopenia
• Izinkinga zamathambo

Ukwelulekwa ngofuzo kunconyelwa abazali abazoba nomlando womndeni wesifo seGaucher. Ukuhlolwa kungakhomba ukuthi ngabe abazali baphatha ufuzo olungadlulisa isifo seGaucher. Ukuhlolwa kokubeletha kungasho nokuthi ingane esibelethweni ine-Gaucher syndrome.

Ukushoda kweGlucocerebrosidase; Ukuntuleka kwe-Glucosylceramidase; Isifo sokugcina isitho seLysosomal - iGaucher

• Ukufiswa komnkantsha wethambo
• Iseli leGaucher - i-photomicrograph
• Iseli leGaucher - photomicrograph # 2
• I-hepatosplenomegaly

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