Laron lefu: bakang, phumano, kalafo, itse'ng

Laron lefu - boemong pathological oo 'mele ke sa khone ho amohela le ho sebelisa ya kgolo ka li-hormone. The letšoao o tloaelehileng haholo oa tlōlo ea - dwarfism. Har'a matšoao a tse ling tse ka ho tsejoa bofokoli ba mesifa 'me theola mokoka, hypoglycemia ngoana, lieha ntshetsopele ya bokgoni ho kopanela liphate, leoto khutsufatsa, hammoho le botenya. Hangata ka ho fetisisa bakang liphetoho e sa tloaelehang (liphetoho liphatseng tsa lefutso) ea phatsa ea lefutso e nang le boikarabelo bakeng sa khōlo e. E futsitseng ka ho autosomal recessive tšobotsi.

le matšoao

Laron lefu ke ho hloka taolo seoelo. Tabeng ena, ho fumanoe tsa masea, hangata ho ba le ditefello karolelano ea kgolo le ho nona, empa nakong e tlang ho hōla ea bona ea nama, ae fokotsang lebelo haholo. Untreated batho ba baholo e motona fihle kgolo ya ea pheletso ea cm, 130. Khōlo basali e ka tlase ho cm, 120.

Ho phaella tabeng ea ho kgolo tlaase ea ho ba teng ha matšoao a bolwetse tse latelang:

• mesifa bofokoli, ho hloka mamello;
• Hypoglycemia bongoaneng;
• lieha kena bonneng kapa bosaling;
• feditsweng disproportionately tse nyenyane;
• masesaane, fokolang moriri;
• tlōlo ea sebōpeho sa meno ka;
• shortened maoto le matsoho;
• botenya;
• ikhethang litšobotsi tsa sefahleho (ba hlaheletseng phatleng, nko sunken, putsoa sclera lefu).

mabaka a

Laron lefu le utloisang phetoho liphatseng tsa lefutso se se akaretsang kgolo ya hormona receptor - protheine fumanehileng lera le ka ntle ea lisele ho pholletsa le 'mele. Receptor kgolo ya li-hormone e reretsoe ho lemoha le ebe o kenya tshebetsong le somatotropin, ka tsela eo ho qapa kgolo le karohano ea lisele. Liphetoho liphatseng tsa lefutso tsa phatsa ea lefutso ea sitisa ea ka tšebetso e tloaelehileng ea mochine likokoana-hloko 'me u tsamaise ho tšitiso ea ho hōla ka seleng. le matšoao a mangata mafu a bakoang ke ho hloleha ho hlahisa e-hormone mahareng - insulin joaloka kgolo ya ameha.

lefutso

Maemong a mangata, Laron syndrome, ka bana ba e futsitseng ka autosomal tsela recessive. Sena se bolela hore ho hlōleha ha ho e bakilweng ke liphetoho liphatseng tsa lefutso ka likopi tse bobeli ba phatsa ea lefutso seo ba anngoeng ka e mong le e seleng. Batsoali ba bakuli ba mafu a hangata ba bajari ba kopi e 'ngoe ea phatsa ea lefutso mutated,' me ke ka seoelo le bothata ba ho ea liponahatso tse tloaelehileng tsa ho kena-kenana le. Ha bajari tse peli tsa ka recessive lefu autosomal hlahile ngoana lefu lefa la kotsi e 25%; ho ka etsahala hore ba le microcyteme etseng letho ba kamoo e mong le e ba batsoali ba sa - 50%; monyetla oa ho se Baiseraele ba kene efe kapa efe e sa tloaelehang kapa mutated phatsa ea lefutso - 25%.

Ho latela litlaleho tse ling, ho na le malapa a mang a eo Laron syndrome, e futsitseng ka autosomal tsela e ka sehloohong. Maemong a joalo, bakeng sa phetiso ya mafu ke phetoho liphatseng tsa lefutso ka kopi e 'ngoe ea phatsa ea lefutso seo ba anngoeng ka e mong le e seleng. Ka linako tse ling tšobotsi ena o inkela ngoana ho tloha motsoali ea bolwetse ba le mamello. Tsebahalang le Maemong a ncha, se futsitseng liphetoho liphatseng tsa lefutso bo liphatseng tsa lefutso, ha tlōlo e fumanoa ka ho bana ba tsoang malapeng a neng a se na taba le 'ngoe ea lefu lena. Motho ka tiisa litlaleho tse bolwetse mutated phatsa ea lefutso ho bana ba bona ka 50% ea linyeoe.

tlhathoba

Mora tekolo ea pele ea matšoao totobetseng le matšoao a setsebi sa ka hlahloba lefu Laron (difoto tsa batho ba nang le bolwetse cm,. Sehloohong se). liteko tse eketsehileng li atlehe ho netefatsa tepelletse maikutlong ena le khethollo ea atlehang, ho akarelletsa le teko ea mali bakeng sa li-hormone e itseng. Hangata ka ho fetisisa ho batho ba nang le boloetse bona le phihlelo maemo e phahameng ea ho hōla-hormone ka nako e tšoanang le ea fokotseha ka insulin joaloka kgolo ya ameha. Maemong a mang, lingaka li laela lithuto tsa liphatsa tsa lefutso ho netefatsa hore phetoho liphatseng tsa lefutso phatsa ea lefutso. diphetho mehato tekotshupo lumella ho fumana hore na hantle hore lefu Laron.

kalafo

Ka ho feletseng phekola boemo ena pathological ea phekolo ea kajeno ha e-s'o ka ho sebetsa. phekolo popontshwa le haholo-holo ba bua ka matsapa ya kgolo, e leng e fanoeng ke ente subcutaneous ea ka insulin sieo-hormone. Ntho susumelletsa kgolo ya guttate (bophahamo), bo eketsa ntshetsopeleng ya boko le thibela ketsahalo ea lefu la tshilong ya dijo ka bakoang ke khaello nako e telele liprotheine hlokahala. Ho phaella moo, liente joalo hlahisa mali tsoekere, ho thibela ho bokella k'holeseterole 'me haholo toned mesifa dinama tse nyenyane tse. Phekolo ea insulin joaloka kgolo ya ntlha e lokela ho phethahatsoa tlas'a botsamaisi kamehla ditsebi, e le feteletseng la litekanyetso li behoa hlokahalang ho ka etsa hore maloetse a tebileng.

pono

Nako e telele itse'ng ke hangata ka ho fetisisa le tšepo haholo. Laron lefu ha ama ba phela. Ho feta moo, bajari ba lefu lena le lefa le ho hongata hoo ka tlase kotsing ea kankere le batho bao e seng ka insulin le lefu la tsoekere mellitus. Hona joale re a khanna ho etsa lipatlisiso e pharaletseng ho khetholla maqhama pakeng tsa Laron lefu, liphetoho tse bang teng liphatseng tsa lefutso, khōlo ea li-hormone le ntshetsopele ya lihlahala tse kotsi. Ho ka etsahala hore ka liphetoho tsena phatsa ea lefutso ke senotlolo sa ho hlōla kankere.