Laron syndrome: izimbangela, uphethwe, ukuphathwa, onalesi sifo

Laron syndrome - isimo sokugembula lapho umzimba akakwazi ukwamukela bese usebenzisa hormone ukukhula. I oluvamile kakhulu ukuhlukumeza - kukobana iba yifitjhani khulu. Phakathi kwezinye izimpawu kungenziwa ubuthakathaka kwemisipha ukwehlisa amandla, ingane kahle kungakhuphula izinga likashukela ezikhonjwe, imisiwe ukuthuthukiswa ngokobulili, esitho kokunciphisa, kanye nokukhuluphala ngokweqile. Ngokuvamile zibangela ushintsho normal (ukuguquka kwezakhi zofuzo) a isakhi sofuzo esiyimbangela yalesi ukukhula. It ezuzwa i autosomal imfanelo esikhubazayo.

izimpawu

Laron syndrome yisimo sifo esingavamile esidluliselwa. Kulokhu, uphethwe ezinsaneni, ngokuvamile anezinga isilinganiso ukukhula kwesisindo, kodwa esikhathini esizayo ukukhula kwabo ngokomzimba siyehla kakhulu. Uma kungelashwa kwakunabantu besilisa abadala sikhule maximal of 130 cm. Ukukhula abesifazane lingaphansi kuka 120 cm.

Ngaphezu ukukhula eliphansi khona zokugula elandelayo zimpawu:

• ukuba buthakathaka kwezicubu, ukungabi ukukhuthazela;
• Kahle kungakhuphula izinga likashukela ebuntwaneni;
• imisiwe ngesikhathi sokuthomba;
• izitho zangasese uhlasela elincane;
• nezinwele ababuthakathaka;
• kokunikezwa kwe-isakhiwo amazinyo;
• nemilenze wakhathala;
• ukukhuluphala;
• izici zobuso ehlukile (ebunzini ovelele, ekhaleni lushone, blue sclera syndrome).

izizathu

Laron syndrome okubangela kuguquka ehlanganisa ozokusebenzisa yokwamukela - neprotheni etholakala ulwelwesi lwangaphandle amaseli wonke umzimba. i-hormone yokwamukela ukukhula senzelwe yekubona kusebenze somatotropin, kanjalo nokusungula ukukhula nokuhlukana kwamangqamuzana. Ukuguqula izakhi zofuzo of isakhi sofuzo zithikameze ukusebenza evamile indlela yemvelo futhi kuholele thuthuva yentuthuko cell. izimpawu eziningi izifo ezibangwa ukungakwazi ukukhiqiza ihomoni yesibili - insulin-like ukukhula isici.

ufuzo

Ezimweni eziningi, Laron sifo ngo izingane ezuzwa i autosomal ngendlela esikhubazayo. Lokhu kusho ukuthi ukwehluleka kubangelwa ukuguquka kwezakhi zofuzo kuzo zombili amakhophi isakhi sofuzo ethintekile kuseli ngayinye. Ngokuvamile abazali of iziguli ezinokuphazamiseka kukhona abathwali ikhophi eyodwa isakhi sofuzo soguquko lwegciwane singalawuleka, futhi kuyaqabukela uhlushwa ukubonakaliswa evamile umthetho. Lapho ababili abathwali a esikhubazayo autosomal isifo bezala ingane isifo ifa ingozi 25%; bungaba yenethiwekhi lesilinganiselwa indlela ngayinye abazali - 50%; amathuba hhayi ifa iyiphi isakhi sofuzo angaphilile noma soguquko lwegciwane singalawuleka - 25%.

Ngokwemibiko ethile, kukhona imindeni lapho Laron sifo njengefa ku-autosomal ngendlela evelele. Ezimweni ezinjalo, i-ukudluliselwa izifo kuyisimo kuguquka e ikhophi eyodwa isakhi sofuzo ethintekile kuseli ngayinye. Ngezinye izikhathi lesi sici usebenzisa ingane kusukela lomzali zokugula isiguli. Akwaziwa kanye amacala amasha, hhayi ngofuzo ukuguquka kwezakhi zofuzo, lapho ukwephulwa sitholakale izingane emikhayeni ongazange abe Udaba olulodwa lesi sifo. Umuntu imibiko zokugula waqinisekisa soguquko lwegciwane singalawuleka isakhi sofuzo izingane zabo-50% amacala.

ukuhlola

Ngemva nokuhlolwa kokuqala izimpawu ezisobala futhi izimpawu of onguchwepheshe angakwazi ukuxilonga Laron syndrome (izithombe zabantu nge zokugula cm. Esihlokweni). ukuhlolwa okwengeziwe abazenzi ukuqinisekisa lokhu Ihlahlubo kwamangqamuzana ngempumelelo, kuhlanganise ukuhlolwa igazi-hormone athile. Ngokuvamile abantu nale nkinga wazibonela amazinga aphezulu we-hormone ukukhula ngesikhathi esifanayo ne ukwehla insulini-like ukukhula isici. Kwezinye izimo, odokotela linqume izifundo zofuzo ukuze uqinisekise ukuthi kuguquka zofuzo. izinyathelo zokuxilonga Imiphumela uvumele ukunquma ngokunembile Laron syndrome.

ukwelashwa

Ngokuphelele ukwelapha lesi isimo sokugembula wokuphila emkhakheni wamuva wezokwelapha akakabi force. ukwelashwa Innovative ngokuyinhloko igxile ukusheshisa ukukhula, okuyinto bunikezwa umjovo ongama insulin ulahlekile hormone. Into ukufukula komugqa (ukuphakama), ke ngesivinini ukuthuthukiswa zobuchopho futhi kuvimbela okuvela iziyaluyalu umzimba okubangwa ukuntula isikhathi eside amaprotheni adingekayo. Ngaphezu kwalokho, imijovo anjalo ukukhulisa kashukela, ukuvimbela ukunqwabelana cholesterol ne kakhulu toned kwemisipha izicubu. Ukwelashwa insulin-like ukukhula isici okufanele kwenziwe ngaphansi ebhekiwe ongoti, njengoba okweqa umthamo edingekayo ingaholela ezinkingeni zempilo ezingathi sína.

ukuba nombono ongafani ngeke

Izibikezelo isikhathi eside esizayo kungenye avame ngempela okuhle ngendlela engakholeki. Laron syndrome akuphazamisi isilinganiso sobude bokuphila. Ngaphezu kwalokho, abathwali esiwufuzo nengozi ingasaphathwa yomdlavuza non-insulini ngifundise ngesifo sikashukela. Okwamanje senza ucwaningo olubanzi ukuze abone izixhumanisi phakathi Laron syndrome, ukuguquka kwezakhi zofuzo, i-hormone ukukhula nokuthuthuka izimila ebulalayo. Kungenzeka ukuthi lezi zinguquko isakhi sofuzo kuyisihluthulelo kokunqoba umdlavuza.