Potter syndrome: sababaha, calaamadaha, cudurka

Potter syndrome waxaa lagu magacaabaa iin halis ah oo ilmaha caloosha ku. Soocista bilowdo qeexidda la yaab this.

Waa maxay Potter Syndrome?

Potter ee syndrome - iin dhasho ilmaha caloosha ku, taas oo uu ku kelyaha gebi ahaanba ka maqan, taas oo ah natiijo ka mid ah yaraynta mugga dheecaanka amniotic.

Natiijadan ayaa waxa ay biyo yaraanta waa riixo ka mid ah ilmaha caloosha ku jira uurka ka. Carruurta waxaa sidoo kale lagu arkay sambabada si liidata horumariyo, wejigaaga duuduubku caadiga ah iyo qalfoofka la ceejiyo, addimada ay maroorsamaan.

In 1964 godu Potter shaaca iin horumarinta ah waxaa lagu gartaa iskaanka (la'aan) labada kelyaha uurjiifka ama aplasia (maqnaansho kasta oo xubin ama jidhka qaybo), oo ay weheliso aan caadi ahayn wajiga. syndrome Tani waxaa loo gudbinayaa suugaanta caafimaadka iyo sidoo kale syndrome Potter la iskaanka kelyaha 2, renal-wajiga Grosse syndrome, Kobac la'aanta kelyaha wajiga.

Potter ee syndrome in ilmaha caloosha ku: Sababaha

aetiology The (asal) syndrome ayaa weli si buuxda u fahamsan yahay. In 50% ee kiisaska waxaa la ogaaday in aan caadi ahayn aasaasiga ah waxaa loo muujiyey sabab u la'aanta dheecaanka amniotic (biyo uurjiifka) in qof dumar ah oo uur leh. Riixo ee ilmo-galeenka uurjiifka keenaysaa in horumarka cillado kelyaha wajihi (fidsanaan iyo ballaadhkaasi), wadnaha, dabada, xubnaha taranka, sambabada (hypoplasia), jirka (clubfoot).

Potter syndrome dhacdaa carruurta yaryar, carruurta da'doodu ka yar tahay dhawr bilood, ugu yaraan - carruurta ka weyn yahay hal sano ah, oo marar badan ee wiilasha. dhacdooyinka iin ah :. 1 ilaa 50 kun oo dhalasho.

Baadhitaan waalidka

Maxay yihiin calaamadaha syndrome waxaa ku weheliyay Potter ee ilmaha caloosha ku? kelyaha cad Large - taasi waa waxa loo arki karaa on ultrasound. iskaanka Tani waxay noqon kartaa dhaxlaan dominantly (Dhaxal waalidka kale ma u xakamayn kartaa), ie ma la xidhiidha qadarka dheecaanka amniotic. Mid ka mid ah waalidiinta waxaa laga yaabaa in horumar ama maqnaanshaha of mid ka mid ah kelyaha, kaas oo la iska fududaysto laga yaabaa in baaritaan caafimaad xilli hore.

iskaanka Kelyaha waxaa dominantly dhaxlay, taas oo macnaheedu yahay in uu jiro itimaalka 50% dhalashada ilmaha caloosha ku, taas oo laga dheehan doonaa Potter syndrome a.

Potter syndrome 75 boqolkiiba siday suuragal u dhici kara in ilmaha marka waalidka uu helay isbedel ayaa ku PKHD1 hiddo. Waxay dhacaan 1 celcelis ahaan in 50 qof. Isbedelo ma keeni horumarinta deg deg ah oo iin ah warbaahinta, waxay karaa muddo tobannaan sano maray ka ab ka ab.

Halista dhalashada ilmaha leh syndrome ee Potter dhaxal ah Isbedelo laga labada waalid muujin karo. Haddii isbedelka hidda uurjiifka waxaa loo gudbin doonaa oo keliya aabbihiis ama hooyadiis, oo leh boqolkiiba 50 fursad ah uu ku dhalan doono caafimaad. 25% ka mid ah carruurta ma dhaxli PKHD1 isbedel ayaa ka labada waalid, waxay leeyihiin wixii isbeddel ah ee heer hidaha.

symptomatology syndrome

Potter ee syndrome ee Baadhista xanuunada caloosha ku muujinayaa daliilka soo socda:

• qarnigii dhimman aad u cidhiidhi ah,
• qodo caan ka yar line qarnigii;
• hypoplasia mandibular (mikrognatsiya);
• sanka guri;
• masaafo aan caadi ahayn oo waaweyn oo u dhexeeya xubnaha aaday (sida indhaha) - hypertelorism;
• epicanthus convex ( "xeradan Mongoliyaan") - laab gaar ah geeska hoose ee isha, oo daboolaya tiibiida ka lacrimal;
• qaab aan caadi ahayn dhegaha weyn oo jilicsan.

jeermi

Marka ilmuhu dhasho calaamadda u wayn - in neefsigu daran, taas oo u muuqato la daqiiqo ee hore ee nolosha madax banaan. Samaynta hawo pneumothorax adag (goobooyin hawo ah aagga pleural in caqabad dhaqdhaqaaq jiibta iftiinka).

Nasiib darro, inta badan baaxad weyn oo dhallaanka cudurka Potter ee syndrome dhiman saacado yar dhalashada ka dib. Marka foomamka fududee la xiriira digestivnogo (dheefshiidka) mareenka - cloaca Fistula (xarunta of koollo futada iyo Fistula in mid ka mid ah), ma daloolin ee futada (diiwaan sax) - waxaa loo isticmaalaa qalliinka.

Badbaaday ilmaha syndrome Potter

In 2013, warbaahinta ayaa sheegay in gabar dhashay Abiigayil Butler, gabadhii xubin ka mid ah Golaha States United Golaha Wakiilada, Republican Koongareska Jaime Herrera oo iasgu. Ilmuhu wuxuu ahaa awoodaan si ay u noolaadaan la syndrome in ka hortagtaa hawlaha caadiga ah ee qaabka neefsashada.

At bisha 5aad ee uurka, naagtii ay ogaadeen in gabadha kuma uu joogsan oo ka soo baxay kaadida maqnaanshaha dhamaystiran oo kelyaha. Sababta ahaa yaraanta dheecaanka amniotic in uur leh Jaime Herrera oo iasgu. Inkastoo ay soo gunaanaday dhakhaatiirta ku dhawaaqday inay kiiskan dilaa, naagta iyo ninkeeda go'aansaday inuu sii wado uurka. In si ay u mag qadar yar oo ah dheecaanka amniotic in ilmo-galeenka Jaime maamusho biyaha cusbada gaar ah. John Hopkins - dhakhtarka sameeyaa therapy ah, ma balanqaadi karin in gabi ahaanba isqaba, daaweynta waxay keeni doontaa in natiijo lagu qanci karo.

Laakiin July 15, 2013 Little Abiigayil ku dhashay nool. Xusuus hooyadiis, gabadha mana ay qaylin at dhalashada, laakiin muddo ka dib wuxuu bilaabay inuu aad u qayliyo - sambabada ilmahaaga shaqeeya. dhalashada ka dib, markiiba wareejiyo dialysis - nidaam in gabi ahaanba badalay shaqada kelyaha in bandhigayaa wax soo saarka shiid jidhka ka. Sannad ka dib, kolkii iyadu ay bedelay kelyaha deeq ah.

fursad A for dhalashada ilmo syndrome live Potter iyo dhaqancelinta xiga guulaha xaaladaha dhabta casri ah ay wali loo arko mucjiso ah. Sidaa darteed, dhakhaatiirta ku adkaysanayaan on ilmo iska soo ridid ah ee cudurka ilmaha caloosha ku iin noocan oo kale ah. Tusaale Abiigayil Butler ma yididiilo leh awoodo, laakiin waxaa lagama maarmaan ah in la fahmo in this kiis gaar ah waa.