Isifo se-Gaucher sisifo esizalwe yi-lipid metabolism

Izifo zesifo sokuxhatshazwa kwezilwanyana zihlala zidibaniswa nokuphulwa okuzalwa kwangaphambili kwe-enzymes. Musa ukuzibandakanya kunye nesifo seGaucher.

Isifo se-Gaucher sisifo sesifo esizalwe ngumntwana, esidibene ne- lipid metabolism engafanelekiyo. Ngenxa yesifo, ukuqokelela kwamathambo athile kunye namalungu athile e-fat deposits.

Emzimbeni womntu, kukho iinkulungwane zazo zonke iintlobo zezinto ezisebenzayo, ezibizwa ngokuba ngama-enzyme okanye, njengoko sasivame ukuva, i-enzymes. Enye yalezi zinto i-glucocericibrosidase, ngenxa yesenzo kwihlobo oluthile lweamafutha (i-glucocerebrosides), likhuthaza ukucoca kwee-molecule. Isifo se-Gaucher sisifo esingavamile kakhulu , esibonakala kuphela kwiiwaka eziliqela zabantu emhlabeni jikelele. Kule meko, isifo kwizigulane ezineglucocericidibrosidase ncinane kakhulu. Ngenxa yokusilela kwe-enzymatic, iiseli ze-Gaucher ziqokelela emzimbeni, apho i-molecule ze-fat e-unsplit ziqokelelwa khona.

Iingcali zihlula izifo ze-Gaucher kwiintlobo ezintathu:

Uluhlu 1. Luhlobo oluqhelekileyo lwesifo. Uphawu oluphambili lwale ntlobo, olubandakanya kwizifo ezithintekayo, kuba ukungabikho kwe-neuronopathy. Kubantu abaninzi, kwenzeka ngokuphantse ngaphandle kwempawu. Kodwa kubalulekile ukuba uqaphele ukuba ezinye izigulane zinokuba neempawu ezinzulu okanye ezize zisongela ubomi. Kufuneka kwakhona ukwazi ukuba inkqubo yesantya kunye neengqondo azichaphazelekayo.

Uhlobo lwe-2 lwenzeka ngokuthe gqolo kunokuba luhlobo lokuqala, kodwa lunempawu ezinzima kakhulu, eziza kunyaka wokuqala wobomi kwaye zikhokelela kwi-pathologies ye-neurological (neuronopathy acute), kunye nezinye iimpawu. Uninzi lwezigulane aluyi kuphila kwiminyaka emibini.

Uhlobo lwe-3. Kwakunqabile, kodwa kungekho ngaphantsi kohlobo lwesibini. Kwakhona kubonakala ngokubonakala kweempawu ze-neurological, kodwa azibonakali njengoluhlobo lwesibili lwesifo se-Gaucher (i-neuronopathy engapheliyo). Iimpawu zokuqala ziyakubonwa nakubantwana, kodwa izigulane zikwazi ukuhlala kwindawo yobudala.

Izimpawu eziphambili

Isifo se-Gaucher, njengoko kuchazwe ngentla, sikhokelela ekuhlanganisweni kweeseli ze-Gaucher kwizitho zangaphakathi, kwaye ngokuphindaphindiweyo kwesibindi, umongo wethambo kunye nepeni. Oku kubangela ukuba iinxalenye zanda ukwanda, i-anemia iqala, kunye nezinye iimpawu ezibonakalayo. Uhlobo lwesibini nolwesithathu lwezifo lubonakaliswe zizilonda zesistim neengqondo ngokukodwa.

Isifo se-Gaucher, isithombe esichazwe kulo nqaku, asixhomekeke kwisini. I-Symptomatology ingabonakalisa nanini na ubudala, kodwa kuyafaneleka ukuba uqaphele ukuba uhlobo lwesibini nolwesithathu lufumaneka rhoqo kubantwana. Kwakhona, esi sifo asixhomekeke kubuhlanga naluphi na uhlobo, kodwa ngokwemibare yeenkcukacha, amaYuda aseAshkenazi ahlala echaphazelekayo yi-pathology.

Kufanelekile ukukhumbula ukuba esi sifo esiza kuba yingozi kakhulu. Ngoko ke, ukuba kwintsapho yakho kukho iziganeko ze-enzymopathy yokuzalwa, kufuneka uguqulele kwingcali onokukunceda ukuba ufumane ukuba unayo le pathology.