Ukhathazekile ngokukhula kwengane yakho? Ake sifunde ngeRussell-Silver Syndrome!

Wake wazizwa sengathi ukukhula kwengane yakho kuhamba kancane? Noma odokotela bathi ingane yazalwa inesisindo esincane noma inezici ezihlukile? Ngezinye izikhathi, izinto ezinjengalezi zingasenza sikhathazeke kakhulu njengabazali. Namuhla, sizokhuluma ngesimo esisodwa esingavamile kodwa esibalulekile okufanele sisiqaphele. Leso yiRussell-Silver Syndrome.

Ubani ongathola lesi simo? Sivame kangakanani?

Eqinisweni, i-Russell-Silver syndrome ingathinta noma yimuphi umntwana. Ithinta abafana namantombazane ngokulinganayo. Kodwa-ke, iyisifo esingavamile sofuzo . Ngokwezibalo, sithinta cishe oyedwa kwabangu-15,000 kuya koyedwa kwabangu-100,000 abazalwa. Kunzima ukunikeza inani eliqondile, ngoba ngezinye izikhathi izimpawu zalesi simo zifana nezezinye izifo zokukhula, futhi ngezinye izikhathi azitholakali.

Lesi simo saqala ukutholwa ngo-1953 nguDkt. Henry Silver. Kwabe sekuthi ngo-1954, uDkt. Alexander Russell wathola ezinye izici eziningana. Ekuqaleni, cishe iminyaka engama-20, abacwaningi babecabanga ukuthi la madoda amabili athole izifo ezimbili ezahlukene. Kamuva kwaqashelwa ukuthi ayebone izici ezahlukene zesifo esifanayo. Yingakho manje sibizwa ngokuthi i-Russell-Silver syndrome. Kwamanye amazwe, ikakhulukazi eYurophu, sibizwa nangokuthi i-Silver-Russell syndrome.

Ziyini izimpawu ze-Russell-Silver syndrome?

Lokhu kuyinto ebaluleke kakhulu. Izimpawu zingahluka kakhulu kuye ngengane. Futhi zingathinta izingxenye ezahlukene zomzimba. Ake sibone ukuthi yiziphi izimpawu eziyinhloko.

Izici ezihlobene nokukhula

Kunezici eziningana ezikhethekile okufanele zibonwe ekukhuleni kwalezi zingane:

• Umkhawulo wokukhula kwesisu (IUGR): Lokhu kusho ukuthi umntwana akakhuli njengoba kulindelekile ngesikhathi esesibelethweni.
• Isisindo esiphansi sokuzalwa : Isisindo esingaphansi kwesijwayelekile ngesikhathi sokuzalwa.
• Ukwehluleka ukukhula kanye nokukhuluphala okuncane ngemva kokuzalwa : Lokhu kuyinkinga nakomama abaningi.
• Ubude obufushane: Ukuba mfushane kunezinye izingane ezingontanga efanayo.

Izici zogebhezi nobuso

Ezinye izici ezingavamile zingabonakala ngesimo sobuso nosayizi wekhanda lalaba bantwana:

• Ukuba nekhanda elikhulu uma kuqhathaniswa nomzimba wonke (uma kuqhathaniswa nokuphakama nesisindo).
• I -fontanelle, noma indawo ethambile ekhanda, ithatha isikhathi ukuvala.
• Ubuso obungunxantathu .
• Ibunzi eliphuma phambili .
• Isilevu esincane .
• Umhlathi omncane `(micrognathia)`.
• Amakhona omlomo abonakala sengathi abheke phansi .

Izinkinga zamazinyo

Kungase kube nezinkinga ezithile ezihlobene namazinyo:

• Ukulahlekelwa amazinyo athile (i-hypodontia).
• Ukuba namazinyo amancane ngendlela engavamile (i-microdontia).
• Ukuminyana kwamazinyo .
• Ngezinye izikhathi kuba nezimo ezifana nomlomo oqhekekile .

Ezinye izici zomzimba

Kunezinye izici eziningana zomzimba, okuyilezi:

• Umehluko ngobude bezingalo nemilenze ezinhlangothini zombili (i-hemihypertrophy).
• Umunwe omncane ugobile ngaphakathi (ngokusebenzisa i-clinodactyly).
• I-Scoliosis .

Yiziphi izinkinga ezingaba khona ze-Russell-Silver syndrome?

Kubalulekile ukuqaphela imiphumela yomzimba ye-Russell-Silver syndrome, engabangela izinkinga ezahlukene zempilo enganeni yakho.

Ubunzima bokudla nokuphuza

• Isifiso sokudla : Ingane ingase ilahlekelwe isithakazelo sokudla.
• I-reflux ye-acid engapheli (GERD - Isifo Sokuphindezela Kwesisu): Lokhu kusho ukuthi i-acid yesisu igeleza iye emphinjeni.
• I-Esophagitis : Lesi simo (GERD) sibangela ukuthi umphimbo uvuvuke.

Izinkinga ezihlobene nokukhula kwezinzwa

• Ukulibaziseka kokukhula: Lokhu kusho ukuthi izinto ezifana nokugingqika, ukuhlala phansi, nokuhamba ziyalibaziseka.
• Ukulibaziseka kwenkulumo .
• Umehluko ekufundeni : Kungase kuvele ubunzima emsebenzini wesikole.

Ezinye izinkinga

• Ukulibaziseka kokukhula .
• Ubunzima bokuhamba noma ukugcina ibhalansi .
• Amazinga kashukela aphansi egazini (hypoglycemia).
• Izinkinga zezinso .
• Izinkinga ngohlelo lokuzala kanye nohlelo lomchamo .

I-Russell-Silver syndrome ibathinta kanjani abantu abadala?

Abantu abadala abane-Russell-Silver syndrome bavame ukuba bafushane . Abesilisa bavame ukuba ngamafidi angu-1.11 amasentimitha ubude. Abesifazane bangaba ngamafidi angu-1.7 amasentimitha ubude.

Futhi, ucwaningo luthole ukuthi laba bantu basengozini yokuthola izinkinga ezintsha zempilo njengoba bekhula. Lezi zifaka:

• I-Metabolic syndrome .
• Ukuncipha kwesisindo semisipha .
• Ukuncipha kokuqina kwamathambo .
• Ukuncipha kwesifiso sobulili (hypogonadism).
• Umdlavuza wamasende .
• I-Myoclonus dystonia : Lesi yisimo esibangela ukunyakaza okungazelelwe nokungalawuleki.

Yini ebangela lesi sifo?

I-Russell-Silver syndrome empeleni iyisimo esiyinkimbinkimbi . Ibangelwa ukungalingani kwezinye izakhi zofuzo ezilawula ukukhula komzimba.Okwamanje kwaziwa ukuthi cishe abantu abangu-60% abanalesi simo babangelwa izinguquko zofuzo kuma-chromosome 7 noma 11.

Kodwa, ngokumangazayo, cishe abantu abangu-40% abatholakale benalesi sifo ngokwezokwelapha abanayo imbangela yofuzo ebonakala. Kungenzeka ukuthi lesi simo sibangelwa izinguquko kuma-chromosome ngaphandle kwama-chromosome 7 no-11. Abacwaningi basaphenya ukuthi yiziphi ezinye izinguquko zofuzo ezingase zihileleke kulesi sifo.

Kwenziwa kanjani ukuxilongwa?

I-Russell-Silver syndrome ngezinye izikhathi ingaba nzima ukuyixilonga. Njengoba kushiwo ngaphambili, izimpawu kanye nobukhali besimo kuyahlukahluka kakhulu kuye ngengane. Kodwa-ke, udokotela wengane yakho uzoqala enze ukuhlolwa okujulile ngokomzimba. Angase futhi ancome ukuhlolwa kwezakhi zofuzo zama-molecule . Lokhu kuhlolwa kwezakhi zofuzo kungaqinisekisa ukuxilongwa cishe kuma-60% amacala.

Iphathwa kanjani i-Russell-Silver syndrome?

Ukwelashwa kwalesi simo kuyahlukahluka kuye ngengane. Kuye ngezimpawu kanye nobukhali besimo. Into ebaluleke kakhulu ukuqala ukwelashwa ngokushesha okukhulu . Yilapho ingane yakho izoba nomphumela omuhle kakhulu. Ithimba lochwepheshe lizokwelapha ingane yakho. Leli qembu lingafaka:

• Udokotela wezingane wengane yakho.
• Udokotela wezingane okhula ngentuthuko .
• Uchwepheshe wamathambo .
• I-endocrinologist udokotela ogxile ezindlala ze-endocrine nama-hormone .
• Udokotela ochwepheshe ohlelweni lokugaya ukudla (i-gastroenterologist).
• Isazi sokudla okunempilo .
• Udokotela wezinzwa .
• Uchwepheshe wamazinyo .
• Umeluleki wezokukhuluma .
• Isazi sokusebenza kwengqondo .
• Umeluleki wezakhi zofuzo kanye nososayensi wezakhi zofuzo .

Izinketho zokwelapha zinqunywa ngokusekelwe esimweni sengane:

Ukwelashwa kokukhula

Ukwelashwa okubaluleke kakhulu eminyakeni emibili yokuqala yokuphila kwengane ukwesekwa kokudla okunempilo . Odokotela bazoqinisekisa ukuthi ingane ithola inani elifanele lamakhalori. Uma kudingeka, ipayipi lokuncelisa lingasetshenziswa ngale njongo:

• Ipayipi le -Nasogastric: Kulokhu, ipayipi elincane lidlula ekhaleni lomntwana, emhubheni, nasesiswini.
• Ipayipi lesisu: Kulokhu, kwenziwa ukusika okuncane odongeni lwesisu somntwana bese kufakwa ipayipi ngqo esiswini.

Ukwelashwa ngama-hormone okukhula (ukwelashwa nge-GH):

Ngale ndlela yokwelapha:

• Kuthuthukisa isakhiwo somzimba wengane, ukukhula kwemisipha, kanye nesifiso sokudla.
• Kunciphisa ingozi yokuba namazinga aphansi kashukela egazini (hypoglycemia).
• Kwandisa ukukhula .

Ukwelashwa kwezinkinga zokudla nokuphuza

I-acid reflux ingaphathwa kanje:

• Nikeza ukudla okuncane njalo .
• Ukubamba umntwana eqonde ngenkathi encelisa.
• Imithi: Ama-H2 blockers , anciphisa ukukhiqizwa kwe-asidi, kanye nemithi enamandla kakhulu, njenge -proton pump inhibitors , esiza futhi ekwelapheni izilonda emhubheni.
• Ukufakwa kwe-Fundoplication : Lena inqubo yokuhlinzwa eqinisa i-valve (i-sphincter) phakathi komphimbo wengane nesisu.

Ukwelashwa kwamazinga aphansi kashukela egazini (i-Hypoglycemia)

Lokhu kungaphathwa kanje:

• Ukuhlinzeka ngokudla njalo .
• Izithako zokudla.
• Ukudla okuqukethe ama-carbohydrate ayinkimbinkimbi .

Ukwelashwa kwezinkinga zamazinyo

Ukwelashwa okuhlukahlukene kwamazinyo, njengokufaka izinsimbi noma ukuhlinzwa komlomo, kungadingeka ukuze kulungiswe izinkinga ngamazinyo engane yakho.

Ukwelashwa kwezinye izinkinga

Ngezinye izikhathi izinsimbi zokubopha noma izicathulo ezikhethekile zingasiza ekuthuthukiseni ukuhamba nokulinganisela. Ukuhlinzwa ukuze kulungiswe ukungalingani kwezitho akuvamile.

Ungazilawula kanjani izimpawu?

Ngaphezu kwemithi, udokotela wengane yakho angase ancome ezinye izindlela zokwelapha eziningana. Lezi zihlanganisa:

• Ukwelashwa kwengqondo : Abelaphi bezengqondo (izisebenzi zezenhlalakahle) banikeza ukwesekwa kwempilo yengqondo. Basiza ngezinkinga ezihlobene nokuzethemba kwengane, ubudlelwano nontanga, kanye nokusebenzisana nabantu.
• Ukwelulekwa ngofuzo : Abeluleki ngofuzo bangaqinisekisa ukuxilongwa kwengane yakho futhi bakunikeze wena nomndeni wakho iseluleko esidingekayo.
• Ukwelashwa ngokomzimba : Abelaphi bomzimba basebenzisa ukuvivinya umzimba ukusiza ukwelula nokuqinisa imisipha nemisipha yengane.
• Ukwelashwa Komsebenzi : Abelaphi bemisebenzi basiza ngezinto ezifana namakhono okunyakaza okuhle, ukuqonda okubonakalayo, ukucabanga kwengqondo, kanye nokucubungula izinzwa.
• Ukwelapha ngenkulumo : Abelaphi benkulumo basiza ngezinkinga ezihlobene nenkulumo, ulimi, ukuxhumana, kanye nokudla nokugwinya.

Ngingayinciphisa kanjani ingozi yokuba ingane yami ibe ne-Russell-Silver syndrome?

I-Russell-Silver syndrome iwumphumela woshintsho lwezakhi zofuzo.Ngakho-ke, ayikho indlela yokuvimbela lesi simo. Uma uhlela ukukhulelwa futhi ufuna ukuqonda ingozi yokuba nomntwana onesimo sofuzo, khuluma nodokotela wakho mayelana nokuhlolwa kofuzo ngaphambi kokukhulelwa .

Yini okufanele ngiyilindele uma ingane yami ine-Russell-Silver syndrome?

I-Russell-Silver syndrome iyisimo esihlala isikhathi eside . Kodwa-ke, ayinayo imiphumela emibi esongela impilo. Ungaba nethemba ngekusasa lengane yakho. Kodwa kuncike ekuxilongweni nasekwelashweni. Ingane yakho izodinga ukunakekelwa kwezokwelapha okusheshayo kanye nokulandelwa. Uma yelashwa kusenesikhathi futhi ngempumelelo, ingane yakho ingaphila impilo evamile .

Uyini umehluko phakathi kwe-Russell-Silver syndrome kanye ne-Silver syndrome?

Zombili lezi yizimo ezingavamile zofuzo ezibangelwa ushintsho ku-gene. Kodwa-ke, i-Silver syndrome ibangelwa ushintsho ku-gene ye-BSCL2 . I-Silver syndrome iyisifo sofuzo esibangela ukuqina kwemisipha (i-spasticity) kanye nokukhubazeka kwezingalo ezingezansi (i-paraplegia). Izimpawu ze-Silver syndrome zivame ukuqala ebuntwaneni . Izimpawu zingase zibe zimbi njengoba abantu bekhula, kodwa abantu abanalesi simo bavame ukuphila impilo esebenzayo.

Ukuzwa ukuxilongwa kwe-Russell-Silver syndrome kungaba yinto ekhungathekisayo. Kodwa-ke, into ebaluleke kakhulu okufanele uyikhumbule ukuthi umbono wezingane ezizalwa nalesi simo uvame ukuba muhle. Uma kutholakale futhi kwelashwa kusenesikhathi, i-Russell-Silver syndrome akuyona inkinga esongela impilo. Ithimba lodokotela abangochwepheshe lizosebenzisana nawe kanye nengane yakho ukuze libasize baphile impilo evamile nenempilo.

Ngakho-ke, yiziphi izinto okufanele sizikhumbule kule ndaba? (Umyalezo Ofanele Uwuthathe Ekhaya)

Kulungile, ngithemba ukuthi usuyaqonda kangcono i-Russell-Silver Syndrome esikhulume ngayo. Kuvamile ukuzizwa ukhathazekile uma uzwa ngesimo esinjengalesi. Kodwa-ke, into ebaluleke kakhulu ukungesabi, ukuthola ulwazi olufanele, bese uthatha izinyathelo ezidingekayo.

• I-Russell-Silver syndrome yisimo esingavamile sofuzo esithinta ukukhula kwengane, ikakhulukazi ngaphambi nangemva kokuzalwa.
• Izimpawu ziyahlukahluka kuye ngengane, ngakho-ke kubalulekile ukufuna iseluleko sezokwelapha uma unenkinga mayelana nokukhula noma ukubukeka kwengane yakho.
• Ukuxilongwa kusenesikhathi kanye nokuqala ukwelashwa okufanele kungcono kakhulu enganeni. Lokhu kudinga usizo lochwepheshe abahlukahlukene.
• Nakuba lesi simo siqhubeka impilo yonke, asisongeli impilo. Uma siphathwa kahle, ingane ingaphila impilo evamile.
• Awuwedwa. Kunabantu abaningi abafana nodokotela, abeluleki, kanye nabelaphi abangakusiza wena nengane yakho kulesi simo.

Okokugcina, ungesabi ukukhuluma nodokotela nganoma yikuphi ukukhathazeka ongase ube nakho mayelana nempilo yengane yakho. Ngesiqondiso nokusekelwa okufanele, singanqoba noma iyiphi inselele.

I- Russell-Silver Syndrome, i-Russell-Silver Syndrome, izifo zofuzo, ukukhula kwengane, isisindo esiphansi sokuzalwa, ubude obufushane, ukubambezeleka kokukhula