Russell-Silver syndrome: izimbangela, izimpawu, ukwelashwa

imithi yesimanje uyazi eziningi izifo. Ezinye zazo yilezi kuhle, izimbangela kanye imithi kwamanye amaqembu ososayensi ukusebenza kwenu kungabanga yize. Ingxenye atholwe izifo, kanti abanye okuyifa. Omunye isifo ezinjalo kuba azalwa naso Russell-Silver syndrome.

Izici lesi sifo

Zikhona nezinye izihloko ethandwa: Isiliva-Russell ukubhasha komzimba, SSR.

Russell A. futhi H. K. Isiliva - nodokotela bezingane, abaye bafunda le kokubeletha ukulibaziseka kwamabanga okukhula.

Russell-Silver syndrome yesifo azalwa naso. Sici Its main yisona ukubambezeleka ekuthuthukisweni ngokomzimba ngesikhathi sokukhulelwa, ikakhulukazi, ukuthi kuphulwe umthetho kumiswa skeleton wengane. Esikhathini esizayo, kungase kube kungakadluli fontanelle lokuvala.

Izimbangela ifa kukhona ayikaziwa, ezimweni eziningi kukhona uhlelo oluthile.

Lesi sifo kwenzeka kwelinye umuntu ngamunye 30 000. ubulili yokuthuthukisa isifo ayiphazamiseki.

Izimbangela sifo laseRussell-Silver

Isizathu esikhulu lesi sifo kakhulu ukwephulwa ezingeni zofuzo. Futhi uhlobo ifa akuyona we amaphephabhuku noma letindzala.

Ngokuvamile uhlushwa chromosome 7 (10% amacala), 11, 15, 17, 18. Kuyinto lezi-chromosomes futhi banesibopho ukukhula komuntu. Ezimweni eziningi lokhu kungenxa yokuthi ingane ifa amakhophi amabili chromosome kusukela kumama. Lo mphumela libizwa kwabesifazane disomy uniparental.

izimpawu kwangaphandle lesi sifo

Lapho kuzalwa ingane sifo laseRussell-Silver has a isisindo kunalokho amancane, ngokuvamile bengekho ngaphezu kwama-2500 g, nakuba sokukhulelwa kubhekwa umnyuziki eside. Ubude nge mayelana 45 cm. Njengoba bekhula, inkinga ingaxazululwa nokukhula retardation ebonwe abadala (abesifazane musa bavuke ezingaphezu kuka-150 cm amadoda kancane kuka-150 cm). Nokho, isisindo okuhambisana ngokugcwele ubudala, kwezinye izimo ephakeme ngisho kunokuvamile.

Othola izinguquko futhi uhlelo urogenital, isibonelo, kukhona cryptorchidism (ukuphazamiseka lapho amasende ungekho ezindaweni zabo), hypospadias (urethra kuvula atypical kule ndawo), hypoplasia wenduku futhi scrotum (nokungathuthuki).

Ngaphandle, Russell-Silver sifo yaphawula. Waveza emzimbeni asymmetry. Kuthinta ebusweni isiqu, futhi ubude imilenze nezingalo.

Kuthinta Russell-Silver syndrome (ekwelapheni lesi sifo kungatholakala esihlokweni), kanye ebusweni. Ingxenye Yekhanda, okuyinto ubuchopho, anda ngokuziqhathanisa phambi ingxenye yayo, futhi ukwanda ngokucacile omkhulu ngokweqile. umumo Face sifana unxantathu lapho ebunzini convex, kanye nosayizi we mandible nomlomo is kakhulu ziyancipha. Lokhu kubizwa ngokuthi yi psevdogidrotsefaliya. Izindebe Friend namakhona kancane kwehlisa (umphumela "carp umlomo"). Isibhakabhaka okusezingeni eliphezulu, futhi kwezinye izimo kungase emfantwini. Izindlebe protruded ezimweni eziningi.

Phakathi izimpawu elikulesi sihloko zangaphandle yilezi:

• ukwephulwa kwetinhlavu amafutha ongama;
• esifubeni eliwumngcingo;
• lordosis esifundeni lumbar (the convexity yomgogodla phambili);
• ugobile umunwe kancane.

izifo ezihlobene yezitho zangaphakathi

Ngaphezu kwalokho uma iphazamiseka zangaphandle, bavame ebuka futhi izinkinga zomzimba zangaphakathi. Russell-Silver syndrome (izimpawu ezihambisana ukubukeka kahle, njengoba kuchazwe ngenhla) kuthinte izinso ngenxa ukwakheka okungajwayelekile yabo (ukhamba ukuma, ukunwetshwa ukhalo kwezinso, lactic tubules).

Ezigulini, kungakhathaliseki ubulili babo isici zokuthomba ekuseni. Ngo-30% amacala iqala eneminyaka engu-eminyakeni engaba ngu-6. Lokhu kuhlobene yokuthi kukhona ukushukuma gonadotropin wesibeletho (hormone ngokobulili lemali kakhulu esikhulisiwe).

Kodwa ukukhalipha agcinwe ngokuphelele.

Russell-Silver syndrome: Ihlahlubo

Lesi sifo sitholakale umuntu ingane isencane. isinqumo esinjalo senziwe wezingane, ukubukela ukudla ingane egulayo. Nokho, ngaphezu kokuma okujwayelekile abazenzi, futhi ahlukahlukene ukuhlolwa laboratory kanye nezivivinyo:

1. Icacisa ezingeni likashukela egazini. Isikhathi esining impela izingane okutholakala ukuthi banalesi "Russell-Silver syndrome", abe igazi namazinga kashukela egazini eliphansi.
2. Ukuhlola i-chromosomal kwezinso. Ezimweni eziningi, lezi zinkinga atholakala.
3. Ukunqunywa izamba ozokusebenzisa. Kulesi isifo kukhona ukuntula.
4. Ukuhlola ukwakheka skeleton. Lokhu kuyadingeka ukuze ususe ngokuphelele izimo ezengeziwe, okuyinto kwezinye izimo kungase kube yi okungelona iqiniso.

Izici yokwelashwa

Umthetho eyinhloko yokwelashwa: ukuxilongwa ngesikhathi esifanele. Uma ungenzi ngesikhathi, udokotela wakho angase bayaduka wenze ukwelashwa iphimbo, kodwa akanawo isifo ngalezi zingane.

Ezimweni eziningi, iziguli leliniketwe ukuthola ozokusebenzisa iphethini letsite, okuyinto ekuthuthukiseni udokotela.

Ngaphezu kwalokho, izindlela ngokuvamile sisetshenziswa futhi ezengeziwe:

• ikhasi lesikhwama sasekhaya, okuyinto ihlose ukwenza ngcono imisipha;
• imfundo ekhethekile.

Esikhathini Inkambo yokwelashwa ngesikhathi esifanayo ukuthatha Ochwepheshe ezimbalwa:

• udokotela-zofuzo okwaziyo ukubona lesi sifo ngaso ekuqaleni kwayo;
• Isazi noma gastroenterologist, umsebenzi oyinhloko ukuthuthukisa uhlobo olukhethekile lokudla ukuthi luhlose ukwandisa ukukhula;
• endocrinology, ubani omisa ozokusebenzisa;
• Isazi sokusebenza kwengqondo.

Ukuze sithole kusebenta zokwelapha kungase kube into ukwandisa izinga lokukhula. Lapho yakhelwe kahle uhlelo ngonyaka wokuqala ekwelashweni ingafinyelela imiphumela 8 cm.