Kutheni le ngxaki iHlukaniswe kwiSyndromes ezimbini ezahlukileyo
Kwiminyaka edlulileyo, i-Laurence-Moon-Bardet-Biedl syndrome (i-LMBBS) yayisetyenziselwa ukuchaza imeko yezofuzo ezithintekayo ezichaphazela malunga ne-1 kwiintsana eziyi-100 000 ezelwe. Kwaqanjwa ngamagama oogqirha abane abaqale bachaza iimpawu zesifo.
Ukususela ngoko, i-LMBBS iye yaqatshelwa ingalunganga. Kunoko, kwafumanisa ukuba i-LMBBS yayinemicimbi emibili ehlukeneyo: i-Biedl-Bardet syndrome (BBS) kunye ne-Laurence-Moon syndrome (LMS).
Umehluko phakathi kweBiedl-Bardet Syndrome kunye noLaurence-Moon Syndrome
I-BBS yintlupheko yesifo somfuzo engabonakaliyo ebangela ukungonakaliswa kwimbono, iminwe eminwe okanye iinzwane, ukukhuluphala kwesisu nesisu, imiba yeengxaki kunye nokufunda ubunzima. Imiba yembono ihlahloka ngokukhawuleza; abaninzi abantu baya kuba yimfama. Iingxaki ezivela kwezinye iimpawu, ezinjengeengxaki zeengtso, zingasongela ubomi.
Njenge-BBS, i-LMS yintlungu ezuze njengefa. Inxulumene nobunzima bokufunda, ukunciphisa ama-hormone wesini, nokuqina koxinzelelo kunye namalungu. I-BBS kunye ne-LMS zifana kakhulu kodwa zithathwa njengezinto ezahlukeneyo ngenxa yokuba izigulane ze-LMS azibonakalisi iimpawu zamanani angaphezulu okanye ukukhuluphala kwesisu.
Izizathu zeBSS kunye ne-LMS
Uninzi lweziganeko zeBHS zifa. Kuchaphazela amadoda namabhinqa ngokulinganayo kodwa akaqhelekanga. I-BBS ithinta kuphela 1 kwi-100,000 eNyakatho yeMerika naseYurophu. Kuqheleke kakhulu kwilizwe laseKwait naseNewfoundland, kodwa izazinzulu aziqinisekanga ukuba kutheni.
I-LMS kwakhona isifo esizuze njengefa. I-LMS i-autosomal ngokweqile, oku kuthetha ukuba kwenzeka kuphela ukuba bobabini abazali baphethe i-LMS zegeni. Ngokuqhelekileyo, abazali ngokwabo abanalo i-LMS kodwa baphethe i-gene kumnye wabazali babo.
Indlela abachongwa ngayo
I-BBS ixilongwa ngokutsha ebuntwaneni. Iimviwo ezibonwayo kunye nokuhlolwa kweeklinikhi kuya kubheka ukungaqhelekanga kunye nokulibaziseka.
Kwezinye iimeko, ukuhlolwa kofuzo kungafumanisa ubukho besifo ngaphambi kokuba iimpawu ziqhubeke.
I-LMS isoloko ifunyaniswa xa kuvivinywa ukulibaziseka kokuphuhliswa, njengokujonga izibhengezo zokuthetha, ukukhubazeka kokufunda jikelele kunye neengxaki zokuphicotha .
Unyango lweMibandela emiBini
Ukunyangwa kwe-BBS kugxininise ekuphatheni iimpawu zesifo, ezifana nokulungiswa kombono okanye ukuguquka kweentso. Ukungenelela kwangethuba kunokuvumela abantwana ukuba baphile ubomi obuqhelekileyo kunye nokulawula iimpawu, kodwa akukho nonyango yesifo ngeli xesha.
Kwi-LMS, akukho zonyango okwangoku zivunyiwe ukusingatha ingxaki. Njenge-BBS, unyango lujoliswe ekulawuleni iimpawu. Inkxaso ye-Ophthalmic, njengezibuko okanye ezinye izibonelelo, kunokunceda ukuphazamiseka kombono. Ukunceda ukuphatha ukukhawuleza kokukhula kunye nokulibaziseka kokukhula, unyango lwe-hormone lunganconywa. Intetho kunye nokwelapha emsebenzini kunokuphucula ukuxhamla kunye nezakhono zemihla ngemihla. Ukunyanga kwamayeza kunye nokunyangwa kweengtso kunokuba kuyimfuneko.
Ukuxela i-Biedl-Bartet Syndrome okanye uLaurence-Moon Syndrome
Kwabo abanesifo seLaurence-Moon, ukulinda komntu kudla ngokufutshane kunabanye abantu. Isizathu esona siqhelekileyo sokufa sidibene neengxaki zengqondo okanye izintso.
Kwi-Biedel-Bartet syndrome, ukungaphumeleli komzimba kuqhelekileyo kwaye kuyona nto ibangela ukufa. Ukulawula imiba yengqondo kunokuphucula ixesha lokuphila kunye nomgangatho wobomi.
Imithombo:
"Biedl-Bartet Syndrome". I-National Organisation for Disorder Disorders, 2015.
"Laurence-Moon Syndrome". Isigulane.Info, 2015.