Noonan syndrome: inkcazelo, iimpawu, unyango

Kukho iindidi yokuzalwa bekhubazekile ebantwaneni. Ezinye zazo zithathwa ukuba babe yinto eqhelekileyo. Kodwa kukho isifo esinqabileyo. Ubukho ayo esezantsi. Noko ke, abaninzi iziphumo ezimandla kakhulu. Enye yezi ezimbi yi Noonan syndrome. Okulandelayo, makhe siqwalasele ngokweenkcukacha. Eli nqaku lichaza indlela yaye kutheni kubonakala Noonan syndrome. Kwakhona Photo ukugula kuya kwenziwa kwisicatshulwa.

Overview

Noonan syndrome i ngezifo njengelifa. PTPN11 gene mutated ngokunxiba abazali bakhe idluliselwe inzala. Njengomgaqo, amadoda kule ayiphumelelanga. Ngoko ke, lo gene usasazwa ugqithiselwa ngokusebenzisa umgca koomama. Ngokuqhelekileyo uphawu uphawu kusapho sifo. iimeko Rare of non-zamafa, kodwa nayo ibhalwe practice.

ulwazi zembali

Ngelo xesha elinye ukwenziwa njenge cardiologist, udokotela Zhaklin Nunan, esebenza ikliniki kwiYunivesithi yase Iowa, ndiye ndaphawula ukuba iqela elithile labantwana, olu sapho lwaluquka zombini amakhwenkwe kunye namantombazana, owaba stenosis yemiphunga, iphawuleka yokukhula, bebekwe amehlo, intamo okwedada ibekwe auricles ephantsi ptosis. Ukuhlola ukuhlanganiswa izenzo isifo sentliziyo kunye nezinye ukungaqheleki yophuhliso kwizigulane 833, ugqirha wabhala kwinqaku 1962. Xa umsebenzi echaze amatyala ezisithoba apho phezu imvelaphi intliziyo unesiphako uhlobo naso kunye neempawu zobuso iimpawu, isifuba deformation , kunye wazivalela. Esi sigulo ibhaqwe kokubini kubantu inkunzi nemazi.

Noonan Syndrome: Iimpawu

Kukho inani iimpawu ezahlula kwezinye ngezifo. Ezi ziquka, ngokukodwa:

• ukukhula Low. Women - 1,53, ngokuba abantu -. 1,63 m ngexesha lokuzalwa njengoko ubude umzimba kunye ubunzima umntwana ngaphakathi kwemida eqhelekileyo. Ithuba iqala ukusuka kwiminyaka engama-2-3.
• Utshintsho nazo. Izigulane bene Noonan syndrome, ziye ngokubanzi bebekwe amehlo womamangile imilo. Kwikona engaphakathi esibayeni isikhumba ekhoyo. Kwakhona waphawula ptosis (ijwabu eshiyelelweyo) ngenxa umsebenzi kwezihlunu kakuhle, mhlawumbi ngenxa yokuba iziseko ezincinane. Bamalunga nama-ezimbini kwezintathu bonke abantwana abanezifo ukuphazamiseka kwendlela umbono. Xa ptosis limited intsimi ngayo kuphuhlisa a squint.
• ukunyhashwa ukwakha imihlathi. Upper ngokwaneleyo, kukho izulu phezulu arcuate. Zombini imihlathi ngamazinyo interposition engalunganga.
• ukunyuka Low okanye deformation ngeendlebe. Ngenxa yale anomaly abantu abangeva kakuhle.
• entanyeni esifutshane kunye ububanzi.
• Shield-ezimise esifubeni neengono zishiyane ngokubanzi.
• Deformation of engqinibeni (naso).
• Flatfoot.
• iminwe mfutshane.

Malformations amalungu zangaphakathi

Noonan syndrome Idla yi yokuphazamiseka nemithambo yegazi. Ngomhla ngezifo yangasemva kutyhilwa valiweyo (stenosis) yomqeshi pulmonary, kwaye isiphene kwi zekhala interventricular. Indawo yesibini nekuhlala ezingaqhelekanga kwinkqubo genitourinary. Ngenxa yoko, izintso lwabonisa ukuba uneengxaki ezifana hypoplasia (ukungabikho kwithishyu) okanye ukungabikho elinye sezintso. Ngokubhekiselele ekufikiseni, loo iyahluka ukusuka eqhelekileyo sinesiphene ngokupheleleyo. Amantombazana sivame emva kokuba uqala ukuba sexesheni, emakhwenkweni - amasende okanye cryptorchidism bengekho ngokupheleleyo. Kwakhona bafumana ukuhlukunyezwa spermatogenesis. Kwezinye iimeko, le spermatozoa bengekho ngokupheleleyo. Ngokuchasene imvelaphi imisebenzi Noonan syndrome babe ukopha ukwanda. Ezinye izigulane ukuze ubonise ukungaqheleki yophuhliso kwengqondo kwi ngobulali.

imilo

Kukho iintlobo ezimbini zophando:

• ifomu kwiintsapho. Eyahluke uhlobo autosomal-lubalaseleyo njengelifa. Xa abathwali gene wenzala njengesi kuvela nge ngezifo.
• Ifomu khona. Kulo mzekelo, lo guquko kubonakala ngesimo ityala. Kule into amafa ukuyityhilelwa.

izizathu

Le yinto eqhelekileyo ukuba kuphakamisa ngezifo i PTPN11 gene wezakhi. Le isizathu unesifo ngo-50% yezigulane. Noko ke, xa ipesenti ethile abantu sifo ngumba yemfuza engacacanga. leengxaki Ifa kwenzeka ngendlela lubalaseleyo autosomal. Le syndrome kuxhokonxwa kuguquka entsha. Kulo kulandela ukuba abazali kunye gene musa ukuba kakhulu ithuba lokuba abe omnye umntwana.

uphethwe

Oku shelwe ngokungqinelana yeempawu lwangaphandle (ezichazwe ngasentla). Kwakhona luxilongo wafunda parameters elebhu. Ngokukodwa, kukho ukuhla testosterone ingqalelo, XII ekunqandeni factor. Kukho kwakhona azizixhobo kunye nophando. Oqeshwe yi-X-ray kwentamo, echocardiography, ECG. Ukusebenzisa ezi ndlela lwabonisa okungahambi ngamalungu zangaphakathi. Ugqirha kwakhona ukumisela thethwano lwe yemfuza zonyango.

amanyathelo zonyango

Ngokunxulumene unyango syndrome zemfuza uzimisele ijolise ikakhulu ukususa iimpawu. Xa umsebenzi yabelwe cryptorchidism. Ngexesha emasende zakhe angashenxela kwisingxobo samatyhalarha. Ngenxa kunciphiso xi unyango ihomoni androgen kucetyiswa. Xa kukho ukusilela kwezintso, ihaemodialysis umiswa. Ngayo, ukususwa lwenziwa ivela emzimbeni nge iimveliso pathways extrarenal ukusulungekiswa igazi.