Iimpawu, iiMbangela kunye noPiliso lweSystem Syndrome
I-Schwartz-Jampel syndrome (i-SJS) yintlupheko engaqhelekanga, ezuze ilifa elibangela ukungaqhelekanga kwezihlunu zamathambo.
Ezinye zezinto ezingaqhelekanga ezibangelwa yi-disorder zibandakanya oku kulandelayo:
- I-Myotonic myopathy (ubuthakathaka obuthathaka nokuqina)
- I-bone dysplasia (xa amathambo engahlali ngokuqhelekileyo)
- Izivumelwano ezidibeneyo (amanyathelo atyunjwa endaweni, ukukhawuleza ukunyakaza)
- Ukutshatyalaliswa (isantya esifutshane)
I-SJS ithathwa njenge-autosomal condition condition, ebonisa ukuba umntu ufuna ukuzuza iimbumba ezimbini eziphosakeleyo, omnye kumzali ngamnye, ukwenzela ukuphuhlisa i-syndrome.
Iintlobo ze-Schwartz-Jampel Syndrome
Kukho iincinci eziningana zeSwitch-Jampel syndrome. Uhlobo I, olucatshangelwa uhlobo oluthile, lunamacandelo amabini anesigxina afunyenwe kwi-gene defective kwi-chromosome 1:
- Uhlobo lwe-IA lubonakala kamva ebuntwaneni kwaye bunzima kakhulu.
- Uhlobo IB lubonakala ngokukhawuleza ekuzalweni kwaye lunempawu ezinzima.
I-Schwartz-Jampel syndrome Uhlobo II lubonakala ngokukhawuleza ekuzalweni. Unempawu ezahlukileyo kunokuba i-IA okanye i-IB kwaye ayihambelananga nayo nayiphina impazamo yesini kwi-chromosome enye.
Ngako-ke, ezininzi iingcali zikholelwa ukuba uhlobo lwe-II luyisifo esifanayo neStuve-Wiedermann syndrome-ingxaki engaqhelekanga kunye neyobuhlungu obunomdla obuninzi kakhulu ekufeni kwiinyanga ezimbalwa zokuqala zokuphila, ngenxa yeengxaki zokuphefumla.
Ngaloo ndlela, Uhlobo I luza kugxininiswa kweli nqaku.
Iimpawu zeSJS
Uphawu oluphambili lweSwitwzz-Jampel syndrome luyimisipha yobunzima. Olu lukhuni lufana nolwe-Stiff-person syndrome okanye i- Isaacs syndrome , kodwa ukuqina kwesifo se-Schwartz-Jampel akukhululwa yimithi okanye ukulala. Izimpawu ezongezelelweyo ze-SJS zingaquka:
- Isiqu esifutshane
- Ubunzima bomzimba obusalathisiweyo, iingcambu ezincinci zamehlo, kunye nomhlathi omncinane osezantsi
- Ukutshatyalaliswa okuhlangeneyo njengentambo emfutshane, ukuphuma kwangaphandle kwesihlanjeni (kyphosis), okanye isifuba (protecting chest) (i-pectus carinatum, ebizwa ngokuba yi "pigeon chest")
- Ukungaqhelekanga kwethambo kunye nokukhula kwe-cartilage (oku kuthiwa yi-chondrodystrophy)
- Abantu abaninzi abane-SJS banamathuba amaninzi (ama-ocular) okungaqhelekanga, oku kubangela amaqondo ahlukeneyo okubonakalayo
Kubalulekile ukuqonda ukuba zonke iimeko ze-SJS zihlukile kwaye zihluka kwibala kunye nobuqhamo beempawu ezihambelanayo, kuxhomekeke kuhlobo lwesifo.
Indlela UmGaqo-nkcukacha Oyafunyanwa Ngayo
I-SJS idla ngokubonakala ngexesha leminyaka yokuqala yobomi, ngokuqhelekileyo ekuzalweni. Abazali banokubona isisu esinzima sentsana ngexesha lokutshintsha i-diaper, umzekelo. Olu bunzima kunye neembonakalo zobuso eziqhelekileyo kwi-syndrome zihlala zikhomba ukuxilongwa .
Izifundo ezongezelelweyo ezifana ne-x-ray, i-biopsy, i-muscle biopsy, iimvavanyo zegazi ze-enzyme zegazi, kunye neemvavanyo ze-muscle kunye ne-nerve conduction emntwaneni ziya kwenziwa ukwenzela ukuqinisekisa ukungalingani okuhambisana ne-SJS. Ukuvavanya kwe-Genetic yesini esingenasiphelo kwi-chromosome 1 (i-gene HSPG2) nayo ingakuqinisekisa ukuxilongwa.
Kwezinye iimeko ezinqabileyo, ngaphambi kokubeleka (ukuzalwa ngaphambi kokuzalwa) ukuxilongwa kwe-SJS kunokunokwenzeka ngokusebenzisa ukusebenzisa i-ultrasound ukubona ukuba umntwana lowo unempawu ezikhomba i-SJS okanye ezinye izinto eziphuculweyo.
Izizathu zeSwitwz-Jampel Syndrome
Ekubeni i-SJS izuze ifa ngokweendlela zokuzimela, xa umntu ezalwa ene-syndrome bobabini abazali bakhe bayithwala i-gene defective. Umntwana ngamnye ozayo aba bazali abaya kuba nako 1 kwithuba eli-4 lokuzalwa kunye nesifo. Ngokuqhelekileyo, i-SJS ikholelwa ukuba ilifa kwi-autosomal pattern pattern. Kule meko, enye i-gene ekhubazekayo kufuneka izuzwe ilifa ukuba libonakalise.
Ngokubanzi, i-SJS yintlupheko engaqhelekanga enama-129 aqoshiwe amacala, ngokweengxelo kwi- Advanced Biomedical Research . I-SJS ayifutshane nokuphila, kwaye amadoda kunye nabasetyhini bachaphazeleka ngokufanayo ngesifo.
Uhlobo lwe-SJS II (olubizwa ngokuba yi-Stuve-Wiedermann syndrome) lubonakala luxhaphake kubantu abathile be-United Arab Emirates.
Unyango lweSwitch-Jampel Syndrome
Akukho nonyango yeSwitzerland-Jampel syndrome, ngoko unyango lujolise ekunciphiseni iimpawu zesifo. Amachiza anceda kwezinye izifo zengxubevange, ezinjengeyeza elixhatshazwayo i-Tegretol (carbamazepine) kunye neyeza-anti-arrhythic mexiletine inokuba luncedo.
Nangona kunjalo, ukuqina kobuhlungu emzimbeni eSwitzz-Jampel syndrome kungadluka ngokukhawuleza ngexesha elide, ngoko ukusebenzisa iindlela ngaphandle kokuba amayeza angakhetha. Ezi ziquka ukuxilwa kwe-muscle, ukufudumala, ukulula, nokufudumala ngaphambi kokuzivocavoca.
Ukuhlinzwa ukunyanga okanye ukulungisa ukungaqhelekanga kwemisipha, ezifana nezivumelwano ezidibeneyo, i-kyphoscoliosis (apho umjikelezo womlenze ungabonakaliyo) kunye ne-hip dysplasia inokukhetha ukuba iziguli ezithile ze-SJS. Kweminye, utyando oludibeneyo kunye nolwaphulo olunokwenyama lunokunceda ukuphucula ikhono lokuhamba kunye nokwenza olunye uhambo ngokuzimela.
Iingxaki ezibonakalayo neyamehlo, ukuhlinzwa, iilazi zokulungisa, ii-lens, i-Botox (ukwenzela i-eyelid), okanye ezinye iindlela zokuncedisa zinganceda ukuphucula umbono.
Imithombo:
J. J. (2014). iMedicine: I-Schwartz-Jampel syndrome.
Basiri K, Fatehi F, Katirji B. I-Schwartz-Jampel syndrome: Ingxelo yenkcazo kunye nokuhlaziywa kweencwadi. Adv Biomed Res. 2015; 4: 163.
Begam MA. I-Alsafi W, i-Bekdache GN, i-Chedid F, i-Al-Gazali L, iMirghani iHM. Isifundo-Wiedemann syndrome: i-dysplasia ye-skeletal ebonakaliswe ngamathambo amaninzi. Gynecol ye-Ultrasound Obstet. 2011 Nov; 38 (5): 553-8.
I-National Organisation for Distress Disorders. (2016). Schwartz-Jampel Syndrome.