Izimpawu, Izimbangela Nezokwelapha zale Genetic Syndrome
I-Schwartz-Jampel syndrome (i-SJS) iyisifo esingavamile, esizuzwe njengefa esibangela ukungavamile kwamasipha omzimba.
Ezinye zezinto ezingavamile ezibangelwa yi-disorder zifaka okulandelayo:
- I-myotonic myopathy (ubuthakathaka bemisipha nokuqina)
- I-bone dysplasia (lapho amathambo engahlali evamile)
- Izivumelwano ezihlangene (amalunga agxilile endaweni, ukuvimbela ukunyakaza)
- Isisu ( isifushane esifushane)
Ngokuvamile i-SJS ibhekwa njengesimo esibucayi se-autosomal, okusho ukuthi umuntu udinga ukuzuza izakhi zofuzo ezimbili ezingaphelele, okuvela kumzali ngamunye, ukuze kuthuthukiswe isifo.
Izinhlobo ze-Schwartz-Jampel Syndrome
Kunezinhlobo ezimbalwa ze-Schwartz-Jampel syndrome. Thayipha I, okucatshangwa uhlobo lwama-classic, lunama-subtypes amabili alandelwe isakhi se-chromosome 1:
- Thayipha i-IA ibonakala kamuva emuva ebuntwaneni futhi inzima kakhulu.
- Thayipha i-IB ibonakala ngokushesha lapho ezalwa futhi inezibonakaliso ezinzima kakhulu.
I-Schwartz-Jampel syndrome Uhlobo II lubonakala ngokushesha lapho ezalwa. Inezibonakaliso ezihlukile ngokungafani ne-IA noma i-IB futhi ayihlotshaniswa nanoma yikuphi ukukhubazeka kwezakhi zofuzo ku-chromosome eyodwa.
Ngakho-ke, ochwepheshe abaningi bakholelwa ukuthi uhlobo lwesibili empeleni luyisifo esifanayo ne-Stuve-Wiedermann syndrome-isifo esingavamile nesicindezelekile sokwethukela ngesifo esiphakeme ezinyangeni ezimbalwa zokuqala zokuphila, ikakhulukazi ngenxa yokuphefumula.
Ngakho-ke, Uhlobo I luzogxila kulesi sihloko.
Izimpawu ze-SJS
Uphawu oluyinhloko lwe-Schwartz-Jampel syndrome ukuqina komfutho. Lokhu kunzima kufana nalokhu kwe- Stiff-person syndrome noma i- Isaacs syndrome , kodwa ubunzima be-Schwartz-Jampel syndrome abukhululwa yimithi noma ukulala. Izimpawu ezengeziwe ze-SJS zingabandakanya:
- Isiqu esifushane
- Izici zobuso ezinamabala, amacembe amancane amehlo, nomhlathi omncane ophansi
- Ukukhubazeka okuhlangene okunjengezintambo ezimfushane, ukuphuma kwangaphandle komgogodla (kyphosis), noma isifuba esiphezulu (i-pectus carinatum, ebizwa nangokuthi "i-pigeon chest")
- Ukungahambi kahle kwethambo nokukhula kwe-cartilage (lokhu kubizwa ngokuthi i-chondrodystrophy)
- Abantu abaningi abane-SJS nabo banamabomu amaningana (ama-ocular) ajwayelekile, okubangelwa ukukhubazeka okubukwayo okungafani
Kubalulekile ukuqonda ukuthi zonke izinsolo ze-SJS zihlukile futhi ziyahlukahluka ebangeni nobukhulu bezibonakaliso ezihambisanayo, kuye ngokuthi hlobo luni lwesifo.
Indlela Isimo Esitholwa Ngayo
I-SJS ivame ukutholakala phakathi neminyaka embalwa yokuqala yokuphila, ngokuvamile lapho kuzalwa. Abazali bangabona imisipha enzima yengane ngesikhathi sokushintsha kwe-diaper, isibonelo. Lokhu kunzima kanye nezici zobuso ezivamile kwesifo ngokuvamile zikhomba ukuxilongwa .
Izifundo ezengeziwe ezifana ne-x-ray, i-muscle biopsy, ukuhlolwa kwegazi le-enzyme yegazi, nokuhlolwa kwe-muscle kanye ne-nerve conduction kumntwana kuzokwenziwa ukuqinisekisa ukungajwayelekile okuhambisana ne-SJS. Ukuvivinya nge-Genetic yesakhi esingalungile kwi-chromosome 1 (i-gene HSPG2) ingabuye iqinisekise ukuxilongwa.
Kwezinye izimo ezingavamile, ukutholakala kwe-SJS ngaphambi kokubeletha kungase kwenzeke ngokusebenzisa ukusetshenziswa kwe-ultrasound ukubona ukuthi i-fetus inezici ezikhomba i-SJS noma ezinye izinto eziphuthumayo.
Izimbangela ze-Schwartz-Jampel Syndrome
Njengoba i-SJS iningi lizuze njengefa ngokweqile, uma umuntu ezalwa ene-syndrome bobabili abazali bakhe bayithwala isakhi esingenasici. Ingane ngayinye yesikhathi esizayo abazali abayoyenza bayoba nelungelo loku-1 ku-4 lokuzalwa ne-syndrome. Ngokuvamile, i-SJS ikholelwa ukuthi izuzwe ngephethini ephezulu ye-autosomal. Kulezi zimo, isakhi esisodwa esisodwa esingalungile sidinga ukuba sizuze njengefa ukuze lesi sifo sibonakale.
Ngokubanzi, i-SJS iyisifo esingavamile esinamacala angu-129 kuphela aqoshiwe, ngokusho kombiko we- Advanced Biomedical Research . I-SJS ayifinyeleli ukuphila, kanti abesilisa nabesifazane bayathinteka ngokufanayo ngesifo.
I-SJS uhlobo II (okubizwa ngokuthi i-Stuve-Wiedermann syndrome) ibonakala sengathi ijwayele kakhulu kubantu base-United Arab Emirates.
Ukwelashwa kweSwitch-Jampel Syndrome
Ayikho ikhambi le-Schwartz-Jampel syndrome, ngakho ukwelashwa kugxile ekunciphiseni izimpawu zesifo. Imithi ewusizo kwezinye izifo ze-muscle, njenge-anti-syndrome imithi Tegretol (carbamazepine) kanye nemithi yokulwa ne-anti-arrhythm mexiletine ingaba usizo.
Kodwa-ke, ukuqina komfutho ku-Schwartz-Jampel syndrome kungase kuhambe kancane kancane ngokuhamba kwesikhathi, ngakho ukusebenzisa izindlela ngaphandle kwemithi ingase ikhetheke. Lokhu kuhlanganisa ukusikhipha imisipha, ukufudumala, ukwelula, nokufudumala ngaphambi kokuzivocavoca.
Ukwelashwa ukusiza ukuphatha noma ukulungisa okungajwayelekile, okufana nezivumelwano ezihlangene, i-kyphoscoliosis (lapho umgogodla ungahambisani khona) futhi i-hip dysplasia ingaba yindlela yokukhetha iziguli ezithile ze-SJS. Kwabanye, ukuhlinzwa okuhlangene nokwelapha ngokomzimba kungasiza ukuthuthukisa ikhono lokuhamba nokwenza ezinye izinyathelo ngokuzimela.
Izinkinga ezibukwayo nezamehlo, ukuhlinzwa, izibuko zokulungisa, ama-lens oxhumana nabo, i-Botox (nge-spasm yejwabu leso), noma ezinye izindlela zokusekela zingasiza ekuthuthukiseni umbono.
Imithombo:
I-Ault J. (2014). iMedicine: I-Schwartz-Jampel syndrome.
Basiri K, Fatehi F, Katirji B. I-Schwartz-Jampel syndrome: Umbiko wezehlakalo nokubuyekezwa kwezincwadi. I-Adv Biomed Res. 2015; 4: 163.
Begam MA. I-Alsafi W, i-Bekdache GN, i-Chedid F, i-Al-Gazali L, iMirghani HM. I-Stuve-Wiedemann syndrome: i-dysplasia yamathambo ehlonishwa ngamathambo amakhulu. I-Gynecol ye-Ultrasound Obstet. 2011 Nov; 38 (5): 553-8.
Inhlangano Kazwelonke Yezinkinga Ezinzima. (2016). I-Schwartz-Jampel Syndrome.