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Start arrow Autosomalne recesywne arrow Sekwencja Pierre?a Robina

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Zespół Pierre’a Robina jako pierwsi opisali Lannelongue i Menard w 1981 roku. Ich raport dotyczył 2 pacjentów z mikrognacją, rozszczepem podniebienia oraz zapadaniem się języka ku tyłowi (retroglossoptosis).
W 1926 roku Pierre Robin opublikował raport przedstawiający przypadek dziecka z kompletnym zespołem.
Do 1974 roku, owa triada objawów nosiła nazwę „zespół Pierre’a Robina”; jednakże, termin „zespół” jest obecnie zarezerwowany do opisania mnogich wad morfogenetycznych występujących w jednym zestawieniu i mających tą samą przyczynę.
Wprowadzono zatem określenie „sekwencja”, jako opisujące kaskadę nieprawidłowości anatomicznych wynikająca z pojedynczego defektu rozwojowego.

ETIOLOGIA I PATOGENEZA

Częstość występowania

Częstość występowania sekwencji Pierre’a Robina ocenia się na ok. 1: 8.500 urodzeń. Dotyka w równym stopniu zarówno kobiety jak i mężczyzn, za wyjątkiem postaci sprzężonej z chromosomem X.
Sekwencja Pierre’a Robina często bywa częścią fenotypową innych zespołów genetycznych – najczęściej zespołu Sticklera, zespołu di George'a czy zespołu Treacher-Collinsa.

Etiologia
Możliwy jest autosomalny recesywny model dziedziczenia sekwencji Pierre’a Robina. Odnotowano także przypadki dziedziczenia sprzężonego z chromosomem X (z wadami rozwojowymi serca i stopami końsko-szpotawymi).
Patogeneza
Istnieją 3 patofizjologiczne teorie wyjaśniające powstawanie sekwencji Pierre’a Robina.
1. Teoria mechaniczna: Najczęściej akceptowana. Hipoplazja żuchwy pojawia się między 7., a 11tym tygodniem ciąży. Zjawisko to utrzymuje język wysoko w jamie ustnej, powodując rozszczep podniebienia, w wyniku niepołączenia płyt podniebiennych. Owa teoria tłumaczy klasyczny rozszczep w kształcie litery U, któremu nie towarzyszy rozszczep wargi. Małowodzie może również odgrywać rolę w powstawaniu sekwencji Pierre’a Robina, gdyż brak płynu owodniowego może powodować odkształcenia podbródka, a następnie - wklinowanie języka pomiędzy płyty podniebienne.
2. Teoria neurologicznego dojrzewania: Opóźnienie w dojrzewaniu neurologicznym (opóźnienie przewodzenia nerwu podjęzykowego) odnotowano podczas elektromiografii mięśni języka, łuków gardłowych i podniebienia. Samoistna poprawa postępująca z wiekiem popiera tą teorię.
3. Teoria dysneurulacji (niewyodrębnienia się komórek nerwowych) tyłomózgowia: według tej teorii rozwój motorycznych i koordynacyjnych systemów w tyłomózgowiu wiąże się z głównymi problemami procesu ontogenezy.

Objawy:
• Mikrognacja (większość przypadków - 91,7%). Charakteryzuje się ona cofnięciem łuku zębowego żuchwy (dolnego) 10-12 mm za łuk zębowy szczęki (górny). Żuchwa osiąga normalny poziom rozwoju w przeciągu pierwszego roku życia dziecka, a do 5-6 roku - hipoplazja żuchwy ustępuje całkowicie i twarz dziecka uzyskuje normalny profil.
• Glossoptoza (nieprawidłowość polegającą na przesunięciu języka ku dołowi albo jego cofnięciu) zauważyć można w 70-85% zgłoszonych przypadków.
• Makroglosja (stan, w którym język jest nieprawidłowo duży) i ankyloglosja (przerośnięcie języka do dna jamy ustnej) są objawami stosunkowo rzadkimi (10-15% przypadków).

Połączenie mikrognacji i glossoptozy może przyczyniać się do poważnych problemów z oddychaniem i karmieniem.
• Obturacyjny bezdech senny
• Rozszczep podniebienia (14-91% przypadków). Może dotyczyć zarówno twardego jak i miękkiego podniebienia, zwykle przybiera kształt litery U (80%) lub V. Czasami może pojawić się rozdwojenie języczka lub ukryty podśluzowy rozszczep podniebienia.
• Zapalenie ucha środkowego (80% przypadków) prowadzące do problemów ze słuchem (75%).
• Głuchota, głównie typu przewodzeniowego, dotyka 60% pacjentów, podczas gdy zrośnięcie kanału słuchowego występuje tylko u 5%.  

U wielu osób z sekwencją Pierre’a Robina, planigrafia kości skroniowej wykazała niewystarczający stopień pneumatyzacji (upowietrzenia) jamy sutkowej.
• Deformacje nosa występują rzadko i dotyczą głównie jego nasady.
• Malformacje rynienki podnosowej oraz zębów. (u 1/3 pacjentów)
• Laryngomalacja (miękkość krtani) dotyka ok. 10-15 % pacjentów.
• Refluks żołądkowy oraz zapalenia przełyku
• Zaburzenia mowy (u większości pacjentów)
• Anomalie oczne (10-30% pacjentów)
o Nadwzroczność
o Krótkowzroczność
o Astygmatyzm
o Stwardnienie rogówki
o Zwężenie przewodu nosowo-łzowego
• Wady układu krążenia
o Stenoza zastawki płucnej
o Przetrwały przewód tętniczy
o Przetrwały otwór owalny
o Ubytek przegrody międzyprzedsionkowej
o Nadciśnienie płucne
• Anomalie układu mięśniowo-szkieletowego (70-80% przypadków)
• Anomalie kończyn górnych
o Syndaktylia
o Dysplazja paliczków
o Polidaktylia
o Klinodaktylia
o Nadmierna giętkość stawów
o Oligodaktylia
• Anomalie kończyn dolnych
o Stopy końsko szpotawe
o Stopy przywiedzione
o Deformacje kości udowej i piszczelowej
o Nieprawidłowości kolanowe
o Deformacje biodrowe
• Skolioza
• Kifoza
• Lordoza
• Dysplazja kręgowa
• Wady ośrodkowego układu nerwowego (ok. 50% przypadków)
o Opóźnienia rozwoju mowy
o Epilepsja
o Opóźnienie rozwoju neurologicznego
o Hipotonia
o Wodogłowie
• Wady układu moczowo-płciowego
o Niezstąpienie jąder (25%)
o Wodonercze (15%)
o Wodniak (10%)

Leczenie
http://pl.wikipedia.org

Jedną z metod leczenia duszności jest stosowanie ciągłego dodatniego ciśnienia w drogach oddechowych (CPAP). Niektórzy autorzy proponują także zastosowanie maski krtaniowej, używanej podczas trudnych intubacji celem zapewnienia prawidłowej wentylacji, podczas zagrażającej ciężkiej duszności. Często także u tych dzieci wykonuje się tracheotomię. Innym problemem dzieci z zespołem Pierre'a Robina jest karmienie. Często w przypadku rozszczepu podniebienia i zapadania się języka jedzenie staje się problemem. Stosuje się wtedy specjalnie dopasowane smoczki lub sondę do żołądka, przez którą może odbywać się karmienie dziecka. Jednym z zabiegów poprawiających drożność dróg oddechowych jest glossopeksja, czyli przemieszczenie języka i takie jego ustawienie, które zapobiega zapadaniu się. Dzieci z zespołem Pierre'a Robina wymagają stałej opieki pediatrycznej, nie tylko ambulatoryjnej, ale w cięższych przypadkach także szpitalnej.

 

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