Noonan syndrome: nkọwa, mgbaàmà, ọgwụgwọ

E nwere a dịgasị iche iche nke nwa ntụpọ na ụmụ. Ụfọdụ n'ime ha na-atụle ga-nnọọ nkịtị. Ma, e nwere a obere ọrịa. Ha njupụta bụ ala. Otú ọ dị, ọtụtụ ndị na-ezi akwa ya pụta. Otu n'ime ndị a pathologies bụ Noonan syndrome. Ọzọ, ka anyị tụlee ya na ihe zuru ezu. Isiokwu a na-akọwa otú ihe mere e na-egosi Noonan syndrome. Photo ọrịa ga-ga-adade ke ederede.

Isi

Noonan syndrome bụ a butere n'aka daa ọrịa. PTPN11 site n'usoro mutated site yi nne na nna ya ebute site ná ụmụ. Dị ka a na-achị, ndị mmadụ na a adịghị amị mkpụrụ bụ. Ya mere, site n'usoro na-ebute site ná site nne nwa akara. Na-emekarị akara ezinụlọ agwa nke ọrịa. Obere okwu nke na-abụghị butere n'aka, kama ha na-dere na omume.

ya mere eme

N'otu oge na-eme dị ka a cardiologist, pediatrician Zhaklin Nunan, na-arụ ọrụ n'ụlọ ọgwụ nke University of Iowa, achọpụtara m na a na ụfọdụ ndị ụmụ, bụ nke gụnyere ma ụmụ okoro na ụmụ agbọghọ, bụ ndị nwere akpa ume stenosis, mgbe mgbe, e ji ala ibu, spaced kporopụrụ anya, webbed n'olu dị ala auricles na ptosis. Inyocha Nchikota ngosipụta nke ọrịa obi na ọrịa ndị ọzọ na otito abnormalities na 833 ọrịa, dọkịta dere na a 1962 isiokwu. Na-arụ ọrụ o kwuru na itoolu ikpe nke na ndabere nke obi ntụpọ congenital ụdị na e ji mara ihu, obi deformation , na stunting. The ọrịa e achọpụtara ma na ndị mmadụ nwoke na nwaanyị.

Noonan ọrịa: Mgbaàmà

E nwere ọnụ ọgụgụ nke ndị e ji mara na ịmata ihe dị iche site na ndị ọzọ daa ọrịa. A na-agụnye, akpan akpan:

• Low ibu. Women - 1,53, n'ihi na ndị ikom -. 1,63 m n'oge ọmụmụ dị ka ahụ nke ogologo na ibu ibu nke na nwa n'ókè kwesịrị ekwesị. Stunting amalite site na afọ 2-3 afọ.
• Mgbanwe ihu. Ọrịa chọpụtara Noonan syndrome, nwere n'ọtụtụ ebe spaced anya almond udi. Na n'ime akuku nke anụ anọghị n'ogige atụrụ bụ ugbu. Ọzọkwa kwuru ptosis (nkuchianaya omitted) n'ihi mkpọchị muscle ọrụ, ma ọ bụghị n'ihi obere sockets. Odika abụọ n'ụzọ atọ nke ụmụaka nile na-anaghị ekwe ndị na-enwe nsogbu nke ọhụụ. Mgbe ptosis mmachi ubi nke na-ele ma na-amalite a squint.
• ụlọ imebi jaws. Upper underdeveloped, e arcuate elu-igwe. Ma jaws na ezé interposition-ezighị ezi.
• Low ịrị elu ma ọ bụ deformation nke ntị. Dị ka a N'ihi nke a anomaly na-ntị chiri.
• Short na obosara n'olu.
• Shield ekara obi na ebe spaced nipples.
• Deformation n'ikpere aka (congenital).
• Flatfoot.
• Short mkpịsị aka.

Malformations nke esịtidem akụkụ

Noonan syndrome na-esokarị site na-enwe nsogbu ndị obi usoro. Na ndabere daa ọrịa kpughere ibelata (stenosis) na akpa ume na akpati, na ntụpọ na interventricular septum. The abụọ na-ji site abnormalities nke genitourinary usoro. N'ihi ya, ya na akụrụ ya kpughere ntụpọ dị ka hypoplasia (enweghị anụ ahụ) ma ọ bụ enweghị otu akụrụ. N'ihe gbasara mmalite oge uto, ya dịgasị iche n'ebe nkịtị kpamkpam gahiere agahie. Girls mgbe hụrụ mgbe mmalite nke ịhụ nsọ, na ụmụ nwoke na - testicles ma ọ bụ cryptorchidism bụ kpamkpam na-anọghị. Ọzọkwa hụrụ a mebiri spermatogenesis. Mgbe ụfọdụ, ndị spermatozoa bụ kpamkpam na-anọghị. Against ndabere nke arụmọrụ maka Noonan syndrome nwere ụba ọbara ọgbụgba. Ụfọdụ ọrịa nwekwara ike na-egosi abnormalities nke iche echiche mmepe na nwayọọ.

udi

E nwere ihe abụọ na ụdị daa ọrịa:

• Ezinụlọ ụdị. Ọ dị iche ketara eketa autosomal-achị ụdị. Na-ebu nke mmụba site n'usoro mkpụrụ-apụta na daa ọrịa.
• The sporadik ụdị. Na nke a, na mutation-egosi na site ikpe ikpe. Na nke a butere n'aka ihe na-akpata na-agaghị ekpughe.

ihe

The kasị ihe na-akpalite daa ọrịa bụ PTPN11 site n'usoro mutation. Nke a na-akpata na-chọpụtara na 50% nke ọrịa. Otú ọ dị, mgbe a ụfọdụ pasent nke ndị na-a syndrome bụ mkpụrụ ndụ ihe nketa na-akpata bụ edoghị. Nketa daa ọrịa emee ihe autosomal achị n'ụzọ. The syndrome nwere ike triggered site ọhụrụ mutation. Site na nke a ọ pụtara na nne na nna na site n'usoro enweghị ọtụtụ nke a ohere nwere nwa ọzọ.

nchoputa

Ọ na-n'ịnyịnya dị na e ji mara mpụga atụmatụ (akọwara n'elu). Ọzọkwa na nchoputa mụọ laabu kwa. Karịsịa, e nwere bụ a ọnụ nke testosterone ịta, XII clotting akpata. E nwekwara ngwá ọrụ na nnyocha. Họpụtara ndị X-ray nke sternum, echocardiography, ECG. Iji ndị a usoro kpughere abnormalities nke esịtidem akụkụ. The dọkịta nwere ike nye iwu ka alo nke ọgwụ na ahụ ike mkpụrụ ndụ ihe nketa.

ọgwụgwọ jikoro

Na njikọ na genetically kpebisiri syndrome ọgwụgwọ a na-iji isi na iwepu mgbaàmà. Mgbe ịwa na-kenyere cryptorchidism. N'oge ya testicles ịkwaga n'ime scrotum. Na Mbelata ịta nke androgen hormone ọgwụ na-atụ aro. Na ọnụnọ nke gbasara akụrụ odida, hemodialysis a kara aka. Na ya, mwepụ a rụrụ site n'ahụ via metabolic ngwaahịa extrarenal ọbara ọcha.