Laron syndrome: zimayambitsa, matenda, mankhwala, madokotala ananena zawo

Laron syndrome - chikhalidwe pathological imene thupi sangathe kulandira ndi ntchito kukula timadzi. The chizindikiro ambiri kuphwanya kwa - dwarfism. Mwa zizindikiro zina tingaone kufooka kwa minofu ndi kutsitsa wamphamvu, hypoglycemia mwana, anachedwa chitukuko cha kugonana, nthambi kufupikitsa, komanso kunenepa. Nthawi zambiri zimabweretsa kusintha nthenda (masinthidwe) wa mbewu udindo kukula. Iwo anatengera ndi autosomal recessive khalidwe.

zizindikiro

Laron syndrome ndi matenda osowa. Pankhaniyi, matenda a ana, kawirikawiri amadwala avareji kukula ndi kunenepa kwambiri, koma m'tsogolo kukula thupi kubweza kwambiri. Popanda kuchitapo kanthu waumuna kufika kukula yayikulu ya masentimita 130. Growth akazi ndi zosakwana masentimita 120.

Kuwonjezera kukula otsika cha kukhalapo zizindikiro kudwala zotsatirazi:

• minofu kufooka, kusowa chipiriro;
• Hypoglycemia ana;
• anachedwa msinkhu;
• kumaliseche yakusatetezeka yaing'ono;
• woonda, ofooka tsitsi;
• kuphwanya dongosolo la mano;
• adzafupikitsidwa miyendo;
• kunenepa;
• chosiyana nkhope (otchuka mphumi, mphuno olowa, buluu sclera syndrome).

zifukwa

Laron syndrome kuchititsa kusintha kupanga kukula timadzi cholandilira - mapuloteni pa nembanemba lakunja kwa maselo a m'thupi. Cholandilira kukula timadzi cholinga kuzindikira ndi yambitsa ndi somatotropin, potero amayambira kukula ndi kugawikana maselo. Masinthidwe a mbewu ya kungafoole kugwira ntchito za masiku onse limagwirira kwachilengedwenso ndi kuyambitsa chisokonezo chitukuko selo. zizindikiro zambiri matenda oyamba ndi kulephera kuti kupanga ndi timadzi sekondale - insulin ngati kukula china.

chibadwa

Nthawi zambiri, Laron syndrome ana ndi tinatengera mu autosomal unsembe recessive. Izi zikutanthauza kuti analephera chifukwa cha masinthidwe magazini onse a jini akhudzidwa mukachipinda. Makolo a odwala matenda zambiri ali ndi mpukutu wina wa jini mutated, ndipo kawirikawiri amadwala mawonetseredwe lililonse siudzalandilidwa ngathi lamulo. Pamene onyamula awiri recessive matenda autosomal anabadwa mwana matenda cholowa chiopsezo ndi 25%; angakhale chotengera chabe mmene makolo - 50%; mwayi osati kulowa aliyense nthenda kapena mutated jini - 25%.

Malinga ndi malipoti ena, pali mabanja omwe Laron syndrome ndi tinatengera mu autosomal unsembe lalikulu. Zikatero, kuti kufala kwa matenda ndi kusintha mu mpukutu wina wa jini akhudzidwa mukachipinda. Nthawi zina Mbali imeneyi utenga mwana makolo ndi kudwala wodwala. Mumadziwika ndi milandu, osati tinatengera masinthidwe chibadwa, pamene kuphwanya ndi matenda ana a m'mabanja amene analibe chochitika chimodzi cha matenda. Munthu ndi anatsimikizira malipoti kudwala mutated jini ana awo mu 50% ya milandu.

diagnostics

Pambuyo ziyenera koyamba zizindikiro zoonekeratu ndi zizindikiro za katswiri akhoza oterewa syndrome Laron (zithunzi za anthu ndi kudwala cm. M'nkhani). mayesero zina akutsatiridwa kutsimikiza matenda ichi ndi zosiyanasiyana zothandiza, kuphatikizapo magazi kuti mahomoni yeniyeni. Nthawi zambiri anthu ndi matenda a anakumana milingo apamwamba kukula timadzi nthawi yomweyo ndi kuchepa insulin ngati kukula china. Nthawi zina, madokotala mankhwala maphunziro majini kuti atsimikizire kuti kusintha jini. Zotsatira miyeso matenda kulola kudziwa ndendende syndrome Laron.

chithandizo

Kwathunthu kuchiza boma pathological wa mankhwala amakono si koma mu mphamvu. mankhwala nzeru makamaka lolunjika pa mathamangitsidwe kukula, omwe amaperekedwa ndi jekeseni subcutaneous wa insulin akusowa timadzi. Mankhwala yotithandiza kukula liniya (kutalika), izo Iyamba chitukuko cha ubongo ndiponso kupewa pakutchulidwa matenda kagayidwe kachakudya chifukwa cha kuperewera kwa nthawi yaitali mapuloteni zofunika. Komanso, jakisoni ngati kwezani magazi shuga, kupewa kudzikundikira mafuta m'thupi ndipo kwambiri toned minofu minofu. Chithandizo cha insulin ngati kukula chinthu ayenera idzachitika kuyang'aniridwa zonse akatswiri monga owonjezera mlingo chofunika kungabweretse mavuto aakulu.

kaonedwe

Yaitali madokotala ananena zawo ndi zambiri chidaliro ndithu. Laron syndrome sikumangotikhudza moyo zaka zambiri. Komanso, onyamula matenda otengera ndi zochepa chiopsezo a khansa si insulin shuga. Panopa tinkachititsa afufuza kwambiri kudziwa limasonyeza pakati Laron syndrome, masinthidwe chibadwa, kukula timadzi ndi chitukuko cha zotupa zilonda. N'zotheka kuti kusintha jini chinsinsi akugonjetsa khansa.