Noonan chirwere: tsananguro, zviratidzo, kurapwa

Pane zvakasiyana-siyana pakupona muvana. Vamwe vavo vanoonekwa kuti kakawanda. Asi pane isingawanzowanikwi chirwere. Kuwanda kwavo yakaderera. Zvisinei, vakawanda chaizvo zvakakomba. Mumwe pathologies izvi ndizvo Noonan syndrome. Next, ngatimboonai izvozvo zvizere. Nyaya ino inotsanangura kuti nei paine anooneka Noonan syndrome. Photo urwere zvicharehwawo dzaitaurwa acho.

tsananguro

Noonan chirwere ndiyo nhaka zvokurwara. PTPN11 Gene mutated nokupfeka vabereki vake chakasvitswa mwana. Kazhinji, varume ichi muchero. Naizvozvo, majini iri kuburikidza mwana nema mutsetse. Kazhinji akacherekedza mhuri hunhu chirwere. Rare kacho vasiri enhaka, asi vari akanyorawo uchidzidzira.

nhoroondo mashoko

Pane imwe nguva aiita somunhu cardiologist, chiremba Zhaklin Nunan, kushanda kiriniki paUniversity of Iowa, ndakaona kuti mumwe boka revana, iro raiva vakomana nevasikana, vakanga pulmonary stenosis, kazhinji dzinoratidzwa pasi kukura, munzvimbo dzokuzororera dzaiva meso paupamhi, webbed mutsipa chiri pasi auricles uye ptosis. chiremba Kuongorora wemishonga kuratidzwa chemwoyo nevamwe zvokukura abnormalities Varwere 833, akanyora 1962 nyaya. Basa iye akatsanangura pfumbamwe nyaya umo iri pakanyorwa mwoyo kuremara vachiberekwa mhando uye maitiro chiso features, muchipfuva deformation , uye stunting. The chirwere akanga dzakaonekwa zvose vanhu vechirume.

Noonan Syndrome: Zviratidzo

Pane zvinhu zvinoverengeka unhu kuti kusiyanisa mamwe zvokurwara. Izvi zvinosanganisira, kunyanya:

• Low kukura. Women - 1.53, varume -. 1,63 M panguva yokuberekwa sezvo muviri urefu uye kurema mwana mukati kwomuzvarirwo pakunogumira. Stunting kunotangira makore 2-3.
• Changes vanosangana. Varwere nechirwere Noonan urwere, kunge zvikuru munzvimbo dzokuzororera dzaiva meso omuarumondi chimiro. In yomukati kukona ganda nedanga aripo. Yakataurawo ptosis (fungiro akadarikira) nokuda havachanyatsogoni tsandanyama basa, kana nokuda zvigadziko duku. Inenge-zviviri muzvitatu vana vose zvinetso muri vachivavhiringidza wezvakaonekwa. Kana ptosis shoma munda maonero uye nezvechinhu chimwe squint.
• chivakwa kutyorwa shaya. Upper underdeveloped, pane arcuate kumusoro kudenga. Vose shaya meno interposition zvakaipa.
• Low simukai kana deformation nzeve. Somugumisiro anomaly ichi vari achinzwa vasingadzoreki.
• Pfupi uye yakafara mutsipa.
• Shield-zvakaumbwa muchipfuva nevakawanda munzvimbo dzokuzororera dzaiva minyatso.
• Deformation pakati kugokora (vachiberekwa).
• Flatfoot.
• Short minwe.

Malformations of zvomukati

Noonan chirwere kunowanzoguma kuvhiringidzika kumwoyo. On nechekumashure zvokurwara kwakaratidza kuderedza (stenosis) ari pulmonary hunde, uye kuremara iri interventricular septum. Nzvimbo yechipiri inogarwa abnormalities ari genitourinary hurongwa. Saka, itsvo kwakaratidza urema akadai hypoplasia (kusava zvinyama) kana kusavapo mumwe itsvo. Panyaya pakuyaruka, izvozvo zvichisiyana Muzvarirwo zvachose chakaremara. Girls kazhinji kwakacherechedzwa pashure kutanga kuenda kumwedzi, mune vakomana - manhu kana cryptorchidism vari zvachose vasipo. Uyewo akawana kutyora spermatogenesis. Mune zvimwe zviitiko, spermatozoa vari zvachose vasipo. Tikafunga remapazi kuti Noonan chirwere ane wakawedzera ropa. Vamwe varwere vave kuratidza abnormalities okukura kwepfungwa ari munyoro.

shepi

Kune mhando mbiri zvokurwara:

• Rwapedyo chimiro. Zvakasiyana nhaka autosomal-kureva mhando. In vatakuri mutant Gene vana tione zvokurwara.
• The nguva dziri kure chimiro. Panyaya iyi, iyo mutation sokuti kubvira nyaya nyaya. In ichi nhaka chinhu hachina.

zvikonzero

The inonyanya chinhu chinokurwadzai kuti zvokurwara ndiye PTPN11 Gene mutation. Ichi chikonzero iri chirwere muna 50% wevarwere. Zvisinei, pane imwe chikamu vanhu vane chirwere ichi chinhu majini chinhu kujeka. Nhaka zvokurwara kunoitika munguva autosomal kureva nenzira. The chirwere chinogona kukonzerwa imwe mutation itsva. Kubva ichi zvinoreva kuti vabereki vane majini havana zvakawanda mukana kuti mumwe mwana.

kuongorora chirwere

Zvinonzi akatasva maererano maitiro kwokunze zvinhu (zvataurwa pamusoro apa). Uyewo nechirwere akadzidza rabhoritari parameters. Zvikurukuru, pane kuderera pamusoro testosterone wevasungwa, XII pakugwamba chinhu. Panewo maturusi uye tsvakurudzo. Yakatarwa X-ray pamusoro sternum, echocardiography, ECG. Kushandisa nzira idzi yakaratidza abnormalities kuti nhengo dzomukati. Chiremba anogona taurira kubvunza zvokurapa genetics.

kuchirapa matanho

Maererano majini kutsunga chirwere kurapwa nechinangwa zvikurukuru kubvisa zviratidzo. Kana kuvhiyiwa kuri vanzi cryptorchidism. Panguva yake manhu kutamira kupinda scrotum. Nengano rutapudzo pamusoro wevasungwa pakati androgen kemikari kurapa Zvinokurudzirwa. In pamberi renal kukundikana, hemodialysis anogadzwa. With payo, kusukwa rinoitwa kubva mumuviri Via ropa metabolic zvigadzirwa extrarenal kucheneswa.