Lesi sifo se-Gaucher yisifo esiyinzalo ye-lipid metabolism

Izifo ze-hyperbolic acid zivame ukuhlotshaniswa nokuhlukunyezwa kwangaphakathi kokuqala kwama-enzyme. Ungenzi i-exception ne-Gaucher yesifo.

Lesi sifo se-Gaucher yisifo esingazalwa esibhedlela, esihlotshaniswa nesifo se- lipid esingasebenzi kahle . Ngenxa yalesi sifo, ukuqoqwa kwamathambo athile kanye nezitho zamakhomithi athile abizwa.

Emzimbeni womuntu, kunezinkulungwane zazo zonke izinhlobo zezinto ezisebenzayo, ezibizwa ngokuthi ama-enzyme noma, njengoba sasivame ukuzwa, ama-enzyme. Enye yalezi zinto i-glucocericibrosidase, ngenxa yesenzo ngandlela oluthile wamafutha (i-glucocerebrosides), ikhuthaza ukuhlenga kwezimvukuzane zabo. Isifo se-Gaucher yisifo esingavamile kakhulu , esibonakala kuphela kubantu abayizinkulungwane ezimbalwa emhlabeni jikelele. Kulesi simo, lesi sifo ezigulini ezine-glucocericidibrosidase sincane kakhulu. Ngenxa yokuntuleka kwe-enzymatic, amangqamuzana e-Gaucher aqoqa emzimbeni, lapho kuhlanganiswa khona ama-molecule ekhululekile e-unsplit.

Ochwepheshe bahlukanisa izifo ze-Gaucher zibe izinhlobo ezintathu:

Thayipha 1. Yindlela ejwayelekile kakhulu yalesi sifo. Isici esiyinhloko salezi ezihlukahlukene, ezifakwe ezifweni zokufa komzimba, ukungabikho kwe-neuronopathy. Kubantu abaningi, kwenzeka cishe ngaphandle kwempawu. Kodwa kufanele kuqaphele ukuthi ezinye iziguli zingase zibe nezimpawu ezimbi kakhulu noma ezisongela ukuphila. Kumele futhi wazi ukuthi isimiso sezinzwa nobuchopho asithintekile.

Uhlobo lwe-2 lwenzeka kancane kancane kunomhlobo wokuqala, kodwa lunemibonakaliso eyingozi kakhulu eqala ngonyaka wokuqala wokuphila futhi iholela ekutheni i-pathologies ye-neurological (neuronopathy) ephawulekayo, kanye nezinye izimpawu. Iningi leziguli ngeke liphile iminyaka emibili.

Thayipha 3. Kubuye kungavamile, kepha hhayi kancane kunomhlobo wesibili. Kubuye kubonakale nokubonakala kwezimpawu zezinzwa, kodwa azibonakalwanga njengohlobo lwesibili lwesifo se-Gaucher (i-neuronopathy engapheli). Izimpawu zokuqala zingabonakala ngisho nasebuntwaneni, kepha iziguli zingaphila ekukhuleni.

Izimpawu eziyinhloko

Isifo se-Gaucher, njengoba kukhulunywe ngenhla, siholela ekuqoqweni kwamaseli we-Gaucher ezingxenyeni zangaphakathi, futhi ngokuvamile esesibindi, umnkantsha wesithambo kanye nesipere. Lokhu kuholela eqinisweni lokuthi izitho zanda ngesayizi, i-anemia iqala, nezinye izimpawu eziningi nazo zivela. Uhlobo lwesibili nolwesithathu lwezifo lubhekene nezilonda zesimiso sezinzwa nobuchopho ngokukhethekile.

Isifo se-Gaucher, isithombe esivezwa kulo kulesi sihloko, asixhunyiwe ku-sex. I-Symptomatology ingabonakalisa nganoma yisiphi isikhathi, kodwa kufanele kuqaphele ukuthi uhlobo lwesibili nolwesithathu luvame ukutholakala ezinganeni. Futhi, lesi sifo asixhomeki emncintiswaneni nganoma iyiphi indlela, kodwa ngokwemininingwane yezibalo, amaJuda ase-Ashkenazi aphethwe yilezi zifo.

Kubalulekile ukukhumbula ukuthi lesi sifo esiyingozi siyingozi kakhulu. Ngakho-ke, uma emndenini wakho kunezimo ze-enzymopathy yokuzalwa, kufanele udluliselwe kumchwepheshe ozosiza ukuthola ukuthi une-pathology.