I-Laron's syndrome: izizathu, ukuxilongwa, unyango, ukuxela

I-Laron's syndrome yimeko yokukhubazeka apho umzimba awukwazi ukuqonda nokusebenzisa i- hormone yokukhula. Uphawu oluqhelekileyo lwale mpazamo ludla. Ezinye iimpawu ziquka ubuthathaka obuthathaka kunye nokunyamezela, ukunyamezela kwezingane, ukuphuculwa kwezesondo, ukunciphisa isitho kunye nokunyanya. Ngokuqhelekileyo ukukhubazeka kubangela ukuba utshintsho (utshintsho) lwe-gene lijongene nokukhula. Ilifa njenge -autosomal traction.

Iimpawu

I-Laron's syndrome yintlungu engaqhelekanga. Ngenxa yokuxilongwa, iintsana ezisandul 'ukuzalwa zivame ukukhula kwamanani amaninzi kunye nobunzima, kodwa kamva ekuphuculeni kwabo ngokwenyama kuya kuphucula ngokukhawuleza. Xa kungabikho unyango, amadoda amakhulu afikelela kwindawo ephakamileyo ye-130 cm. Ukuphakama kwabasetyhini akudluli kwi-120 cm.

Ukongezelela ekukhuleni okuphantsi, ukukhubazeka kuboniswa ziimpawu ezilandelayo:

• Ubuthathaka kwimisipha, ukunyamezela ngokwaneleyo;
• Hypoglycemia ebuntwaneni;
• Ukulahla ekufikeni;
• Iimpawu ezincinci ezincinci;
• Ubunwele obuthathaka;
• Ukuphazamiseka kwesakhiwo samazinyo;
• Izitho ezincinciweyo;
• Ukunyanya;
• Impawu ezifaniyo zobuso (ebonakalayo ebunzini, ekhaleni eliwileyo, isifo se-scleral syndrome).

Izizathu

I-Laron's syndrome ibangele utshintsho lomgubo oqulethe i-hormone receptor-iprotheni efumaneka kwiibhokhwe zangaphandle zeeseli kuwo wonke umzimba. Ukwamkela i-hormone receptor yenzelwe ukuqaphela kwaye isebenzise i-somatotropin, ngaloo ndlela iqalise ukukhula kweeseli kunye nokwahlukana. Ukuguqulwa kwegazi kuphazamisana nokusebenza ngokuqhelekileyo kwendlela yokuphila kunye nokukhokelela ekuphuculweni kwamaphondo. Izimpawu ezininzi ze-pathology zibangelwa ukungakwazi ukuvelisa i-hormone yesibini, into yokukhula efana ne-insulin.

Heredity

Kwiimeko ezininzi, i-Laron's syndrome kubantwana izuze i-autosomal type. Oku kuthetha ukuba ukukhubazeka kubangelwa ukuguqulwa kwimiqulu yomibini kwisifo ngasinye. Abazali besigulane esinokukhubazeka ngokuqhelekileyo bayithwala iikopi enye yokuguqula kwaye bahlala bengabandezeleka ngokubonakalayo kwezifo. Xa umntwana ezalwa kubathwali ababini bezithuthi eziqhekezayo, i-risk of pathology i-25%; Ubunokwenzeka bokuba ngumphathiswa othintekayo, njengomzali ngamnye, ngu-50%; Ilungelo lokungahlali ilifa okanye i-genetic mutation - 25%.

Ngokwezinye iingxelo, kukho iintsapho apho i-Laron's syndrome izuzwa yi-autosomal type. Kwiimeko ezinjalo, ukutshintshwa kwenguqu enye ye-gene echaphazelekayo kwiselinye nganye kunelungelo lokuhambisa lesi sifo. Ngamanye amaxesha kulo mntwana umntwana ufumana isifo kwi-parent parent. Kukho neemeko zenguqu ezintsha, ezingenalo ifa lokuguquka kwemfuyo, xa i-disorder ifunyaniswa kubantwana abaneentsapho ezingenazo iimeko ezifanayo zesifo. Umntu oqinisekisiweyo we-pathology uthumela i-gene genetically to children in 50% yamatyala.

Diagnostics

Kakade emva kokuvavanywa kokuqala kweempawu kunye neempawu ezibonakalayo, ingcali ingakwazi ukuxilonga i-Laron's syndrome (iifoto zabantu abane-pathology bonayo kwinqaku). Ukuqinisekisa ukuxilongwa nokuhlukana ngokufanelekileyo, iimviwo ezongezelelweyo zenziwa, kubandakanywa ukuhlolwa kwegazi kumahomoni athile. Ngokuphindaphindiweyo kubantu abanolu daba, kukho ukwanda kwinqanaba le-somatotropin kanyekanye nokuhla kwe-insulin efana nokukhula. Kwezinye iimeko, oogqirha banika izifundo zofuzo ukuqinisekisa ubungqina bokuguquka kwemfuyo. Iziphumo zeendlela zokuxilonga zivumela ukuba uqonde ngokuchanekileyo i-Laron syndrome.

Unyango

Ukuze uphilise ngokupheleleyo le meko, iyeza lonyango alisakwazi. Ulwaphulo olusisiseko lujolise ngokukhawuleza ukukhula, okubonelelwa ngeendlela zokufakelwa kwe-hypodermic ye-hormone e-insulin ekhoyo. Ixabiso likhuthaza ukukhula okulinganayo (ukuphakama), kukhawuleza ukuphuhliswa kwengqondo kwaye kuvimbele ukuvela kweengxaki ze-metabolism ezibangelwa ukusilela kwexesha elide. Ukongeza, ii-injection ezinjalo ziphakamisa izinga leswekile egazini, zithintela ukuqokelela kwe-cholesterol kwaye ikhuphe kakhulu iisisipha ze-muscle. Unyango oluneenkalo zokukhula ezifana ne-insulin kufuneka zenziwe phantsi kokulinda ngokugqithisileyo kweengcali, njengoko kudlula i-dosage efunekayo kunokukhokelela kwiingxaki zempilo ezinzulu.

Forecast

Imbono yexesha elide ihlala ilindelekile. I-Laron's syndrome ayithinteli ixesha lokuphila. Ngaphezu koko, abathwali be-pathology yelifa bayazibeka engozini yeengxaki ze-oncological kunye nesifo sikashukela esizimeleyo. Okwangoku, uphando olubanzi luyaqhubeka ukuchonga izixhumanisi phakathi kwe-Laron's syndrome, ukuguquka kofuzo, i-hormone yokukhula kunye nokuphuhliswa kwezicubu ezimbi. Kungenzeka ukuba kukho ukuguqulwa kofuzo oluthile olubalulekileyo ekuphumeleleni umhlaza.