Okwenza lokhu kuphazamiseka kuye kwahlukaniswa ama-Syndromes amabili ahlukene
Eminyakeni eyedlule, i-Laurence-Moon-Bardet-Biedl syndrome (LMBBS) yayiyilungu elisetshenziselwa ukuchaza isimo sezakhi zofuzo esithinteka cishe okungu-1 kwabantwana abayi-100,000 abazalwa. Labizwa ngamagciwane amane owaqala ukuchaza izimpawu zesifo.
Kusukela ngaleso sikhathi, i-LMBBS iye yabonakala ingalungile. Kunalokho, kwatholakala ukuthi i-LMBBS empeleni yayinenkinga emibili ehlukile: i-Biedl-Bardet syndrome (BBS) no-Laurence-Moon syndrome (i-LMS).
Umehluko Phakathi kweBiedl-Bardet Syndrome noLaurence-Moon Syndrome
I-BBS yisifo esingavamile kakhulu se-genetic esibangela ukuwohloka kombono, iminwe eyengeziwe noma izinzwane, ukukhuluphala esiswini nasesisu, izinkinga zezinso , nokubunzima kokufunda. Izinkinga zombono ziwohloka ngokushesha; abantu abaningi bayoba yimpumputhe ngokuphelele. Izinkinga ezivela kwezinye izimpawu, ezifana nezinkinga zezinso, zingasongela ukuphila.
Njenge-BBS, i-LMS yisifo esiwuzuzile. Kuhlotshaniswa nobunzima bokufunda, ukunciphisa amahomoni ocansi, nokuqina kwemisipha namalungu. I-BBS ne-LMS zifana kakhulu kodwa zibhekwa njengezihlukile ngoba iziguli ze-LMS azibonisi izimpawu zamanani angaphezulu noma ukukhuluphala kwesisu esiswini.
Izimbangela ze-BBS ne-LMS
Amacala amaningi e-BBS azuzwa njengefa. Kuyakuthinta kokubili amadoda nabesifazane ngokulinganayo kepha akuvamile. I-BBS ithinta u-1 kuphela ku-100,000 eNyakatho Melika naseYurophu. Kuyinto evamile kakhulu emazweni aseKwait naseNewfoundland, kodwa ososayensi abaqiniseki ukuthi kungani.
I-LMS nayo isifo esizuze njengefa. I-LMS i-autosomal ngokweqile, okusho ukuthi kwenzeka kuphela uma bobabili abazali bethatha izakhi zofuzo ze-LMS. Ngokuvamile, abazali ngokwabo abanalo i-LMS kodwa baphatha isakhi ngohlobo lwabazali babo.
Indlela Eyaziwa Ngayo
I-BBS ijwayele ukuxilongwa ngesikhathi seyingane. Izivivinyo ezibukwayo kanye nokuhlolwa kwemitholampilo kuzobheka ukungafani okuhlukile nokulibaziseka.
Kwezinye izimo, ukuhlolwa kwezakhi zofuzo kungabona ukutholakala kwesifo ngaphambi kokuba izimpawu ziqhubeke.
I-LMS ivame ukutholakala lapho kuhlolwa ukulibaziseka kwentuthuko, njengokuhlola ukuvimbela inkulumo, ukukhubazeka okujwayelekile kokufunda, nezinkinga zokuhlola .
Ukwelashwa kwezimo ezimbili
Ukwelashwa kwe-BBS kugxile ekwelapheni izimpawu zesifo, njengokulungiswa kombono noma ukuguqula izinso. Ukwelashwa kwangaphambi kwesikhathi kungavumela izingane ukuba ziphile impilo evamile kakhulu futhi ziphathe izimpawu, kodwa ayikho ikhambi lesi sifo ngalesi sikhathi.
Ku-LMS, azikho izindlela zokwelashwa okwamanje ezivunyelwe ukusingatha lesi sifo. Njenge-BBS, ukwelashwa kugxile ekuphatheni izimpawu. Ukwesekwa kwama-ophthalmic, njengezibuko noma ezinye izinsiza, kungasiza ekubukeleni umbono. Ukusiza ukuphatha ukulibaziseka okusheshayo nokukhula okuncane, ukwelashwa kwe-hormone kunganconywa. Inkulumo kanye nokwelashwa komsebenzi kungathuthukisa ukuxilonga nokuphila kwamakhono okuphila nsuku zonke. Ukuphulukiswa kwe-Renal kanye nezinsolo zokusekela izinso kungadingeka.
Ukubikezelwa kwe-Biedl-Bartet Syndrome noma i-Laurence-Moon Syndrome
Kulabo abane-Laurence-Moon syndrome, ukulinda kompilo ngokuvamile kufushane kunabanye abantu. Isizathu esivame kakhulu sokufa sihlotshaniswa nezinkinga zezinsolo noma izinso.
Ku-Biedel-Bartet syndrome, ukuhluleka kwenqunu kuyinto evamile futhi kuyona imbangela yokufa. Ukuphatha izinkinga zengqondo kungathuthukisa isikhathi sokuphila kanye nekhwalithi yokuphila.
Imithombo:
"Biedl-Bartet Syndrome". Inhlangano Kazwelonke Yezinkinga Ezinzima, 2015.
"Laurence-Moon Syndrome". Isiguli.Info, 2015.