Isifo sikaFitry: iimpawu, unyango, ifoto

Esi sifo, esibangelwa ukusweleka kwe-enzyme ebalulekileyo ye-alpha-galactosidase A, ibizwa ngokuba yi-Fabry's disease, emva kwenzululwazi eyayiphando kwaye yafumanisa. Ngethuba lokuqala ukuguqulwa kwamagciwane kwichaza ngo-1989 eNgilani.

Kwimeko eqhelekileyo, le enzyme ikhona kuzo zonke iiseli zomzimba kwaye ithatha inxaxheba ekusebenziseni i-lipids. Kubantu abazuze ilifa elingenampembelelo, kukho ukuqokelela kwezinto ezinamafutha kwi-lysosomes. Ekugqibeleni, ukugula kukukhokelela ekubhujisweni kweendonga zethambo, iiseli kunye nezicubu. Isifo sikaFitry sisifo esingaqhelekanga se-genetic pathology, esibizwa nangokuthi "isifo se-lysosomal".

Iimpawu

Esi sifo, ngokubhekiselwe kwonyango, kubonakala kuqala kubantu abadala kunye nabantwana kwixesha langaphambi kwexesha.

I-symptomatology yesi sifo ilandelayo:

• Ukuvutha nokukhathazeka okuvela kwimilenze, ukwandisa ngemisebenzi yomzimba kunye noqhagamshelwano olushushu. Ubuhlungu buhlala buhamba kunye neemeko zesifo.
• Ubuthathaka. Ngokuqhelekileyo ukubonakaliswa okunjalo kuhambelana nomoya ombi, ukuxhalabisa, ukuxhalabisa. Izigulane zivakalelwa ukungonakali kwimeko yabo kunye nokungaqiniseki ngokwamakhono abo, okunciphisa kakhulu umgangatho wobomi.
• Ukuphefumula okwehla.
• Ukukhathala kweenyawo nezandla. Indoda, njengoko isifo sifana, asikwazi ukwenza ngisho nezenzo eziqhelekileyo, njengoko ehlala ebhathala. Edibene nentlungu, iimpawu ezinjalo zikhokelela ekuphelelweni kokungancedi.
• Proteinuria. Ukugula, kunye nokunyuka kweprotheni kunye nomchamo. Ngokuqhelekileyo loo mpawu ibangela ukuxilongwa okungafanelekanga.
• Ukuqulunqwa kwemivumba emagqabini, ukuvuthwa, imilomo, kwiminwe.
• Iingxaki zemifuno.

Phantse enye yesithathu yabantwana ngexesha elifanayo kunye neempawu ezibonisiweyo zivelisa i-articular syndrome. Umntwana ufumana iintlungu zomzimba, ukuphuka kombono, ukungabikho komsebenzi we-cardiovascular. Njengoko ukunyuka kwe-enzyme kuyabonakala, ukulimala kwezintso, ukwanda kwengcinezelo yegazi. Nangona kunjalo, abantwana abanqabile ukuba bafumene ukuxilongwa, oko kutheni kubaluleke kakhulu ukuqhagamshelana namaziko ochwepheshe ekuhlolweni kwegazi nakweyiphi na imfuyo yezofuzo.

Ngubani ozuza ilifa?

Abantu abaninzi bayazibuza ukuba isifo sikaFactry sibonisa njani, yintoni na? Ngokutsho kophando oluqhutywe, oogqirha beza kwizigqibo ezi:

• Isi sifo singakhula kumntu kungakhathaliseki ukuba sisini.
• Umzimba obangela ukuphuhliswa kwesifo kufumaneke kwi-X chromosome. Amadoda ane-X kuphela ye-chromosome, kwaye ukuba iqulethe i-gene echaphazelekayo, amathuba okuphuhlisa impawu kakhulu. Indoda ayikwazi ukudlulisela isifo kubantwana bayo, kodwa zonke iintombi zidla ilifa.
• Abasetyhini banee-X-chromosomes ezimbini, ngoko ukuhanjiswa kweso sifo kubantwana besini ngesondo ngu-50/50%.
• Iimpawu zivame ukuvela ebuntwaneni nasebuntwaneni, nakubantu abaselula.
• I-gene ekhubazekayo ivela kwenye yee-12 000 ezisandul 'ukuzalwa, oko kukuthi, ngokungaqhelekanga.

Ukuxilongwa kwesi sifo

Ukuxilongwa ngokuchanekileyo kunzima kunzima, kuba isifo asiqabile kwaye sibonakalisa kwiinkalo ezininzi zeempawu zeklinikhi. Izigulane ezinokumangalisa izifo ze-Fabry zihlolwe yiingcali ezivela kwiinkalo ezahlukeneyo zeeklinikhi.

Amava asebenzayo abonisa ukuba phakathi kokubonakaliswa kokuqala kweempawu kunye nokuxilongwa kokugqibela, umyinge wama-12 iminyaka. Kubaluleke kakhulu ukusungula isifo ngokukhawuleza ukuze kuqaliswe unyango olupheleleyo.

Abasebenzi bezonyango kufuneka bakrokre ubukho bomonakalo wemfuyo ukuba umntu unelungelo lokubambisana kweempawu ezimbini zesifo. Ukususela ebuntwaneni, isifo sika-Fabry (isithombe se-chromosome esichaphazelekayo sichazwe ngezantsi), ngokuqinisekileyo asibonakali, ngoko ukuxilongwa kunokuba nzima.

Ukuxilongwa kwezifo kumadoda

Kwabesilisa izinto ezilandelayo ziyenziwa:

• Uhlalutyo lomthi womndeni, umthi wofuzo. Ngokuqwalasela ubuncwane belihlunu, ukubaluleka okubalulekileyo ekuxilongweni kukuqokelela kwintsapho yama-annesis. Kodwa amalungu esifo esinye seentsapho ahlale engaziwa.
• Isifundo malunga nomxholo we-enzyme galactosidase egazini.
• Uhlalutyo lwe-DNA - lwenziwa kwimeko yokufumana iziphumo ezingenangcamango zophando lwezinto eziphilayo. I-DNA ingathathwa kuyo nayiphi na into yezinto eziphilayo.

Isifo se-Fabry: ukuxilongwa kwezilonda kubafazi

Kuyabasetyhini, imisebenzi elandelayo iphunyezwa:

• Uhlalutyo lomntu.
• Uhlalutyo lweDNA.
• Umxholo we-enzyme egazini akusona isalathisi esiyinhloko sesi sifo, esenziwa ngenxa yokuqalisa ukusebenza kwee-chromosomes ze-X. Inokuthi ibe kwimida eqhelekileyo, nangona umfazi enesifo.

Ukuxilongwa kwangaphambi kokubeleka

Uphononongo lwenziwe ngokulinganisa izinga le-enzyme kumathisom e-fetal. Oku kuyimfuneko xa umama enesifo sofuzo okanye kukho ukusola ukuba umntwana angayidla ilifa likaFrusry. Izibonakaliso zesifo sele zibonakala zingabonakali emva kokuzalwa kwaye zenze bazive bekhulile.

Iingxaki ezinokwenzeka

Ukuba isigulane asifumaneki kwaye isifo asiphilwanga, kwiimeko ezininzi iziphumo ezilandelayo zikhula:

• Ukungaphumeleli kweengtso. Umntu ulahlekelwa iiprotheni rhoqo emthini, oko kukuthi, iproteinuria iyaqhubeka.
• Utshintsho lwemisebenzi kunye nesimo senhliziyo. Xa uphulaphule, ukungazinzi kwemizimba kubonakaliswe, ukuchasana okungaqhelekanga.
• Ukuphazamiseka kokuhamba kwegazi enempilo kwingqondo. Isigulane esinamava esoloko sisidlova, inkathazo enzulu iyingozi.

Unyango

Abantu abanokusola ngesifo se-Fabry bathunyelwa kumaziko athile apho kukho amava okuphulukana nezifo zokuqokelela i-lysosomal. Kule maziko, ubukho bentlalo buqinisekiswa kwaye unyango olufanelekileyo luphunyezwa.

Kuze kube-2000, umgaqo oyintloko wokwelapha wawujoliswe ekunqobeni iimeko ezimbi eziphuhliswayo xa eso sifo siqhubeka. Okwangoku, kukho indlela eyahlukileyo isetyenzisiweyo, ukunceda ekupheliseni nje kuphela iimpawu ezibangela isifo sikaFrusry. Unyango luquka ukwelashwa kwe-enzyme. Izigulane zibekwe amalungiselelo e-alpha-, beta-galactosidase.

Isifo sika-Fabry (iimpawu kunye nezifundo ezivunyelwe ukuseka ukuxilongwa ngokuchanekileyo) kuxhomekeke kwonyango olukhawuleza. Iqhutyelwa ngama-injections, apho isigulane sithola iiveki ezimbini. Le ndlela inokuphunyezwa ngoncedo lomongikazi kwiklinikhi okanye ekhaya, ukuba umntu uyanyamezela ukunyuswa kwamanzi. Unyango luyakuvumela ukuba ulungelelanise imetabolism, ukuphelisa ukuphindaphinda kweempawu, kuthintela ukuphuhliswa kwesifo.

Isilwanyana esibalulekileyo esisetyenziselwa ukutshintshela "Isigxina". Isisombululo siyafumaneka kwiifom 5 ml. Isilwanyana sinyamezeleke, kwiimeko ezinqabileyo, zikhona iziphumo: izibilini, intlungu, isisu .

Ukuba eso sifo sibangela intlungu ebuhlungu, izigulane zingaphinde zenziwe i- anticonbulsants, i- analgesics, i-anti-inflammatory non-steroid agents.

Iingcali ezininzi zikholelwa ukuba ukuxilongwa kakuhle kunye neyeza zokwenza isifo sikaFitry kunokutshintsha ikhondo lemvelo yesifo. Ukusetyenziswa ngokufanelekileyo kwonyango lokufaka endaweni kunokuyeka ukuphuhliswa kwayo.

Uvavanyo lweLebhu

Ngokuchasene nemvelaphi yekhosi, kubalulekile ukulinganisa i-ceramide trihexoside. Ngonyango oluyimpumelelo, ukunyanzeliswa kwayo kunciphisa. Kwezinye iinjongo zeklinikhi, izinga le-globotriosiol ye-sphingosine liba ngumqondiso wokusebenza.

Amagciwane awayekiweyo ngexesha lokukhulelwa kunye ne-lactation, ukuba loo ntokazi ayinaso esinye isifo esibangela ingozi ebomini.

Iziphumo

Isifo sikaFryry sisona sisifo esibi kakhulu, sihamba kunye nentlungu, kuphucula umgangatho wobomi kunye nokukhokelela ekukhubazekeni. Izigulane ezininzi azifumani unyango olufanelekileyo, ngoko ke abakwazi ukusebenza ngokuphumelelayo, ukufunda, ukukhalaza ngeemvakalelo zokukhungatheka, ukukhathala, ukuxinezeleka, ukuxhalabisa.

Ubunzima beempawu zemihla ngemihla lunokudakalisa ukuphuhliswa kwesi sifo, kwaye ubude bomntu obandezelekayo buphakathi kweminyaka eyi-15 ngaphantsi kweyobuninzi babantu. Kodwa isifo sikaFitry asiyisivakalisi, eso sifo, phantsi kwemeko yonyango lokufaka endaweni, umntu unokuphila ubomi obupheleleyo.