Potter syndrome: akpata, mgbaàmà, nchoputa

Potter syndrome a na-akpọ a oké njọ nkwarụ nke nwa ebu n'afọ. Akparamagwa amalite na definition nke a anomaly.

Gịnị bụ Potter ọrịa?

Ọkpu-ite syndrome - a congenital nkwarụ nke nwa ebu n'afọ, nke ọ na-kpamkpam na-anọghị akụrụ, nke bụ n'ihi na mbenata olu nke mmiri ọmụmụ.

The N'ihi nke ụkọ mmiri bụ a mkpakọ nke nwa ebu n'afọ nọ n'afọ. Children na-ahụ kwukwara agụghị oké mepụtara akpa ume, na-ahụkarị Wrinkled ihu na nyagburu okpokoro isi, nke nwere nkwarụ aka na ụkwụ.

Na 1964 godu Potter kwupụta a development ntụpọ e ji mara agenesis (enweghị) ma nwa ebu n'afọ na akụrụ ma ọ bụ aplasia (enweghị ihe ọ bụla ngwa ma ọ bụ akụkụ ahụ), jikọtara na ọdịdị ihu abnormalities. Nke a syndrome na-ezo na ahụ ike na akwụkwọ ahụ dị ka nke ọma dị ka syndrome Potter na gbasara akụrụ agenesis 2, gbasara akụrụ-ọdịdị ihu Grosse syndrome, ọdịdị ihu gbasara akụrụ dysplasia.

Ọkpu-ite syndrome na nwa ebu n'afọ: akpatara

The aetiology (si) syndrome ka ghọtara. Na 50% nke ikpe ọ hụrụ na ihe bụ isi nhata na-egosipụta n'ihi na a enweghị mmiri ọmụmụ (nwa ebu n'afọ na mmiri) na nwanyị dị ime. Mkpakọ nke nwa ebu n'afọ na akpanwa na-eduga ná mmepe nke gbasara akụrụ anomalies ihu (abadaba na abadaba), obi, rectal, Genital, akpa ume (hypoplasia), na nsọtụ (ncheihu n'elu).

Potter syndrome n'akparamagwa ụmụ ọhụrụ, ụmụ n'okpuru afọ a ọnwa ole na ole, ọ dịkarịa ala - na ụmụ tọrọ otu afọ, na ndị ọzọ na-na ụmụ nwoke. The omume nke ntụpọ :. 1 50 puku ịmụ nwa.

Otu nnyocha e mere ndị nne na nna

Gịnị na-mgbaàmà nke syndrome na-esonyere Potter na nwa ebu n'afọ? Large ọcha akụrụ - nke a bụ ihe nwere ike hụrụ na ultrasound. Nke a agenesis nwere ike ịbụ dominantly eketa (si n'aka ruo n'aka nke ọzọ nne na nna nwere ike ghara imegbu ya), ie metụtara ego nke mmiri ọmụmụ. Otu n'ime ihe ndị nne na nna nwere ike underdevelopment ma ọ bụ na-anọghị nke onye nke akụrụ, nke a pụrụ ileghara anya n'ime ọgwụ ule mbụ.

Gbasara akụrụ agenesis na-ketara dominantly, nke pụtara na e a 50% puru ọmụmụ nke nwa ebu n'afọ, nke ga-hụrụ Potter syndrome.

Potter syndrome na 75 percent puru nwere ike ime a nwa mgbe nne na nna ya hụrụ a mutation na site n'usoro PKHD1. Ha ime na nkezi 1 na mmadụ 50. Ndị a mmụba ahụ adịghị eduga anyị ngwa mmepe nke ntụpọ na media, ha nwere ike ruo ọtụtụ iri afọ gafere site n'ọgbọ ruo n'ọgbọ.

Ihe ize ndụ nke ọmụmụ nke a na nwa na syndrome pụrụ igosipụta Potter nketa nke mmụba si ma nne ma nna. Ọ bụrụ na nwa ebu n'afọ mkpụrụ ndụ ihe nketa mgbanwe a ga-ebugharị na nna ma ọ bụ nne, na-a 50 percent ohere ọ ga-mụrụ ike. 25% nke ụmụaka adịghị eketa PKHD1 mutation si ma nne na nna, nwere ihe ọ bụla mgbanwe na mkpụrụ ndụ ihe nketa larịị.

syndrome symptomatology

Ọkpu-ite syndrome na nwa ebu n'afọ nchọpụta nsogbu na-ekpughe na-esonụ ngosipụta:

• oké warara gaps narị afọ;
• e ji mara furrow n'okpuru akara nke narị afọ;
• mandibular hypoplasia (mikrognatsiya);
• ewepụghị imi;
• abnormally nnukwu anya n'etiti paired akụkụ (dị ka anya) - hypertelorism;
• convex epicanthus ( "Mongolian n'ogige atụrụ") - a pụrụ iche n'ogige atụrụ na n'ime akụkụ nke anya, na-ekpuchi lacrimal tubercle;
• ndiiche udi soft nnukwu ntị.

disinfection

Mgbe a mụrụ nwata isi mgbaàmà - siri ike akụkụ okuku ume na nsogbu, nke na-egosipụta onwe ya na mbụ nkeji nke otu nọọrọ onwe ha ndụ. Iduziri ventilashion mgbagwoju anya pneumothorax (ikuku egosipụta na pleural ebe na gbochie ìhè rhythmic ije).

N'ụzọ dị mwute, karịrị n'ọnụ ọgụgụ nke ụmụ ọhụrụ chọpụtara na Potter si syndrome anwụ a awa ole na ole mgbe amuchara nwa. Mgbe Mkpa ọkụ forms metụtara digestivnogo (digestive) tract - urogenital cloaca (onyinye nke gbasara ike na urogenital duct na otu), ọ dịghị perforation nke ike (ziri ezi ndebanye) - a na-eji n'ịwa ahụ.

Ịlafere nwa syndrome Potter

Na 2013, usoro mgbasa ozi kọrọ na a mụrụ nwa ọhụrụ girl Abigail Butler, nwa-nwayi a so na House nke United States House of Representatives, Republican Congresswoman Jaime Herrera Beutler. Nwa ahụ na-adịgide na a syndrome na-egbochi kwesịrị ịrụ ọrụ nke akụkụ okuku ume na usoro.

Na 5th ọnwa nke afọ ime, nwaanyị mụtara na girl anaghị guzo si mmamịrị na zuru ezu enweghị akụrụ ya. Ihe kpatara ya bụ a ụkọ mmiri ọmụmụ na a tụrụ ime Jaime Herrera Beutler. N'agbanyeghị na ngwụsị nke dọkịta kwuru nke a na-egbu egbu, nwaanyị ahụ na di ya kpebiri ịnọgide na-ime. Iji chefuo a obere ego nke mmiri ọmụmụ na akpanwa Jaime ndinọ pụrụ iche saline. John Hopkins - dọkịta bụ ndị na-ọrịa, nwere ike-adịghị nnọọ ekwe nkwa na di na nwunye, na ọgwụgwọ ga-eduga a na-eju afọ N'ihi.

Ma July 15, 2013 Little Abigail mụrụ ndụ. Nne na-echeta, na nwa agbọghọ na-eti mkpu na nwa, ma mgbe a mgbe ọ malitere ịkwa ákwá - nwa akpa ume na-arụ ọrụ. Mgbe a mụrụ ya, ọ nọ na ozugbo zigara dialysis - a usoro na kpamkpam na-anọchi akụrụ ọrụ na-egosiputa ngwaahịa nke metabolism si ahụ. A afọ mgbe e mesịrị, ọ na-anọchi a na-enye onyinye akụrụ.

A ohere maka ọmụmụ nke a ndụ nwa syndrome Potter na ya ụdi ọma ghara ịgbanwe na ọnọdụ nke oge a na-eme eme na-ka weere a ọrụ ebube. Ya mere, ndị dọkịta na-esi ọnwụ ime na nchoputa nke nwa ebu n'afọ ndị dị otú ahụ a dị mma. Atụ Abigail Butler ike na-agba ume, ma ọ dị mkpa ịghọta na nke a bụ ihe ahụkebe ikpe.