Isifo se-Fabry

-Delile

• Izimpawu zesifo sikaFabry
• Ukuxilongwa kwesifo seFabry
• Ukwelashwa kwesifo seFabry

Isifo sikaFabry yisifo esingajwayelekile sokuzalwa esidala ukuqoqwa okungavamile kwamafutha emithanjeni yegazi, okwenza ukuvela kwezimpawu ezinjengobuhlungu obusezandleni nasezinyaweni, izinguquko emehlweni noma emabala esikhunjeni, ngokwesibonelo.

Ngokuvamile, izimpawu zesifo sikaFabry zivela ebuntwaneni, kepha kwezinye izimo, lesi sifo singatholakala kuphela lapho usumdala, lapho siqala ukudala ushintsho ekusebenzeni kwezinso noma kwenhliziyo.

THE Isifo se-Fabry asinalo ikhambi, kepha ingalawulwa ngokusetshenziswa kwemithi ethile ukuvimbela ukukhula kwezimpawu nokuvela kwezinkinga, njengezinkinga zezinso noma isifo sohlangothi.

Izimpawu zesifo sikaFabry

Izimpawu zesifo sikaFabry zingavela zisencane futhi zifaka:

• Ubuhlungu noma umuzwa ovuthayo ezandleni nasezinyaweni;
• Amabala abomvu amnyama esikhunjeni;
• Izinguquko esweni ezingathinti ukubona;
• Ubuhlungu besisu;
• Ukuguqulwa kokuhamba kwamathumbu, ikakhulukazi ngemuva kokudla;
• Ubuhlungu beqolo, ikakhulukazi esifundeni sezinso.

Ngaphezu kwalezi zimpawu, isifo sikaFabry singadala, eminyakeni edlule, ezinye izimpawu ezihlobene nezilonda eziqhubekayo ezibangelwa kwezinye izitho, ezinjengamehlo, inhliziyo noma izinso, ngokwesibonelo.

Ukuxilongwa kwesifo seFabry

Ukutholakala kwesifo sikaFabry kungenziwa ngokuhlolwa kwegazi ukuhlola inani le-enzyme elibhekene nokuqeda amafutha amaningi aqoqeka emithanjeni. Ngakho-ke, lapho leli nani liphansi, udokotela angasola isifo sikaFabry bese eyalela ukuhlolwa kwe-DNA ukukhomba kahle lesi sifo.

Ukwelashwa kwesifo seFabry

Ukwelashwa kwesifo sikaFabry kusiza ukulawula ukuqala kwezimpawu nokuvimbela ukukhula kwezinkinga, futhi kungenziwa nge:

• ICarbamazepine: kusiza ukunciphisa ukuzwa kobuhlungu noma ukushisa;
• I-Metoclopramide: kunciphisa ukusebenza kwamathumbu, kugwema ushintsho kokuhamba kwamathumbu;
• Amakhambi we-Anticoagulant, njenge-Aspirin noma i-Warfarin: yenza igazi libe mncane futhi uvimbele ukuvela kwamahlule angadala unhlangothi.

Ngaphezu kwala makhambi, udokotela angaphinde anikeze amakhambi omfutho wegazi ophezulu, njengeCaptopril noma i-Atenolol, njengoba evimbela ukukhula kokulimala kwezinso futhi kuvimbele ukuqala kwezinkinga kulezi zitho.