Ngaba ukhathazekile ngokukhula komntwana wakho? Masifunde ngeRussell-Silver Syndrome!

Ngaba wakha waziva ngathi ukukhula komntwana wakho kuhamba kancinci? Okanye ngaba oogqirha bathi umntwana wazalwa enobunzima obuphantsi okanye eneempawu ezahlukeneyo? Ngamanye amaxesha, izinto ezinje zinokusenza sikhathazeke kakhulu njengabazali. Namhlanje, siza kuthetha ngemeko engaqhelekanga kodwa ebalulekileyo ekufuneka siyiqaphele. Le yiRussell-Silver Syndrome.

Ngubani onokuyifumana le meko? Ixhaphake kangakanani?

Enyanisweni, isifo sikaRussell-Silver sinokuchaphazela nawuphi na umntwana. Sichaphazela abafana namantombazana ngokulinganayo. Nangona kunjalo, sisifo esingaqhelekanga semfuza . Ngokwezibalo, sichaphazela malunga nomntu omnye kwabayi-15,000 ukuya komnye kwabayi-100,000 abazalwayo. Kunzima ukunika inani elichanekileyo, kuba ngamanye amaxesha iimpawu zale meko ziyafana nezezinye iingxaki zophuhliso, kwaye ngamanye amaxesha azifumaneki.

Le meko yaqala ukufunyanwa ngo-1953 nguGqr. Henry Silver. Emva koko ngo-1954, uGqr. Alexander Russell wafumanisa ezinye iimpawu ezininzi. Ekuqaleni, kangangeminyaka engama-20, abaphandi babecinga ukuba la madoda mabini afumene izifo ezimbini ezahlukeneyo. Kamva kwafunyaniswa ukuba ayebone iinkalo ezahlukeneyo zesifo esinye. Yiyo loo nto ngoku ibizwa ngokuba yiRussell-Silver syndrome. Kwamanye amazwe, ingakumbi eYurophu, ikwabizwa ngokuba yiSilver-Russell syndrome.

Zithini iimpawu zesifo sikaRussell-Silver?

Le yeyona nto ibalulekileyo. Iimpawu zingahluka kakhulu kumntwana ngamnye. Kwaye zinokuchaphazela amalungu ahlukeneyo omzimba. Makhe sibone ukuba zeziphi iimpawu eziphambili.

Iimpawu ezinxulumene nokukhula

Kukho iimpawu ezikhethekileyo ezininzi ekufuneka zibonwe ekukhuleni kwaba bantwana:

• Uthintelo lokukhula ngaphakathi kwesibeleko (IUGR): Oku kuthetha ukuba umntwana akakhuli njengoko bekulindelwe ngelixa esesibelekweni.
• Ubunzima obuphantsi bokuzalwa : Ubunzima obungaphantsi kobuqhelekileyo xa uzalwa.
• Ukungaphumeleli ukukhula kakuhle kunye nokuncipha kancinci emva kokuzalwa : Oku kukwayingxaki nakoomama abaninzi.
• Ubude obufutshane: Ukuba mfutshane kunabanye abantwana abaneminyaka efanayo.

Ikhaka kunye neempawu zobuso

Ezinye izinto ezingaqhelekanga zinokubonwa nakwimo yobuso kunye nobukhulu bentloko yaba bantwana:

• Ukuba nentloko enkulu xa kuthelekiswa nomzimba wonke (xa kuthelekiswa nobude nobunzima).
• I -fontanelle, okanye indawo ethambileyo entlokweni, ithatha ixesha ukuvala.
• Unobuso obunxantathu .
• Ibunzi eliphuma phambili .
• Isilevu esincinci .
• Umhlathi omncinci `(micrognathia)`.
• Iikona zomlomo zibonakala ngathi zijonge phantsi .

Iingxaki zamazinyo

Kusenokubakho nezinye iingxaki ezinxulumene namazinyo:

• Ukulahlekelwa ngamazinyo athile (hypodontia).
• Ukuba namazinyo amancinci ngokungaqhelekanga (microdontia).
• Ukuxinana kwamazinyo .
• Ngamanye amaxesha kukho iimeko ezifana ne-cleft palate.

Ezinye iimpawu zomzimba

Kukho nezinye iimpawu zomzimba, ezizezi:

• Umahluko kubude beengalo nemilenze kumacala omabini (hemihypertrophy).
• Umnwe omncinci ugobile ngaphakathi (nge-clinodactyly).
• I-Scoliosis .

Ziziphi iingxaki ezinokubakho zesifo sikaRussell-Silver?

Kubalulekile ukuqaphela iziphumo zomzimba zeRussell-Silver syndrome, ezinokubangela iingxaki ezahlukeneyo zempilo kumntwana wakho.

Ubunzima bokutya nokusela

• Umnqweno Wokutya : Umntwana usenokuphelelwa ngumdla wokutya.
• I-acid reflux engapheliyo (GERD - Isifo se-Gastroesophageal Reflux): Oku kuthetha ukuba i-acid yesisu iphuma iye emqaleni.
• I-Esophagitis : Le meko (GERD) ibangela ukuba umphimbo uvuvuke.

Iingxaki ezinxulumene nophuhliso lwemithambo-luvo

• Ukulibaziseka kokukhula: Oku kuthetha ukuba izinto ezifana nokuqengqeleka, ukuhlala, nokuhamba ziyalibaziseka.
• Ukulibaziseka kwentetho .
• Umahluko ekufundeni : Kunokubakho iingxaki ezithile emsebenzini wesikolo.

Ezinye iingxaki

• Ukulibaziseka kokukhula .
• Ubunzima bokuhamba okanye ukugcina ibhalansi .
• Amanqanaba aphantsi eswekile egazini (hypoglycemia).
• Iingxaki zezintso .
• Iingxaki kwinkqubo yokuzala kunye nenkqubo yomchamo .

I-Russell-Silver syndrome ibachaphazela njani abantu abadala?

Abantu abadala abane-Russell-Silver syndrome badla ngokuba bafutshane . Amadoda adla ngokuba malunga ne-4 feet ne-11 intshi ubude. Abafazi bamalunga ne-4 feet ne-7 intshi ubude.

Kwakhona, uphando lufumanise ukuba aba bantu basengozini yokufumana iingxaki ezintsha zempilo njengoko bekhula. Ezi ziquka:

• Isifo seMetabolic.
• Ukuncipha kobunzima bemisipha .
• Ukuncipha koxinano lwamathambo .
• Ukuncipha komnqweno wesondo (hypogonadism).
• Umhlaza wamatyhalarha .
• I-Myoclonus dystonia : Le yimeko ebangela iintshukumo ezikhawulezileyo nezingalawulekiyo.

Yintoni ebangela esi sifo?

I-Russell-Silver syndrome yimeko enzima kakhulu . Ibangelwa kukungasebenzi kakuhle kwezinye iijini ezilawula ukukhula komzimba.Okwangoku kuyaziwa ukuba malunga nama-60% abantu abanale meko babangelwa lutshintsho lwemfuza kwiichromosomes 7 okanye 11.

Kodwa, ngokumangalisayo, malunga nama-40% abantu abafunyaniswe benaso esi sifo ngokwezonyango abanaso isizathu sofuzo esibonakalayo. Kusenokwenzeka ukuba le meko ibangelwa lutshintsho kwiichromosomes ngaphandle kweechromosomes 7 kunye ne-11. Abaphandi basaphanda ukuba zeziphi ezinye iinguqu zemfuza ezinokuba negalelo kwesi sifo.

Yenziwa njani le nto yokuxilonga?

I-Russell-Silver syndrome ngamanye amaxesha inokuba nzima ukuyixilonga. Njengoko bekutshiwo ngaphambili, iimpawu kunye nobunzima bemeko ziyahluka kakhulu kumntwana ngamnye. Nangona kunjalo, ugqirha womntwana wakho uya kuqala enze uvavanyo olucokisekileyo lomzimba. Usenokucebisa novavanyo lwe-molecular genetic . Olu vavanyo lwe-genetic lunokuqinisekisa ukuxilongwa kwimeko ezimalunga nama-60%.

Iphathwa njani iRussell-Silver syndrome?

Unyango lwale meko luyahluka kumntwana ngamnye. Luxhomekeke kwiimpawu kunye nobunzima bemeko. Eyona nto ibalulekileyo kukuqala unyango ngokukhawuleza . Kulapho umntwana wakho aya kuba neziphumo ezilungileyo kangangoko. Iqela leengcali liza kunyanga umntwana wakho. Eli qela lingaquka:

• Ugqirha wezingane womntwana wakho.
• Ugqirha wezifo zengqondo ophuhlisayo .
• Ingcali yamathambo .
• Ingcali ye-endocrinologist ngugqirha ogxile kwi-endocrine glands kunye nee-hormones .
• Ugqirha ochwephesha kwinkqubo yokwetyisa (i-gastroenterologist).
• Ingcali yesondlo .
• Ingcali yezifo zengqondo .
• Ingcali yamazinyo .
• Ingcali yokunyanga intetho .
• Ingcali yezengqondo .
• Umcebisi wezofuzo kunye nengcali yezofuzo .

Iindlela zonyango zimiselwa ngokusekelwe kwimeko yomntwana:

Unyango lokukhula

Olona nyango lubalulekileyo kwiminyaka emibini yokuqala yobomi bomntwana kukuxhasa ngesondlo . Oogqirha baya kuqinisekisa ukuba umntwana ufumana umlinganiselo ofanelekileyo weekhalori. Ukuba kuyimfuneko, ityhubhu yokondla ingasetyenziselwa le njongo:

• Umbhobho weNasogastric: Kule nto, umbhobho omncinci udlula empumlweni yomntwana, emqaleni, nasesiswini.
• Ityhubhu yesisu: Kule nto, kwenziwa umngxuma omncinci eludongeni lwesisu somntwana kwaye ityhubhu ifakwe ngqo esiswini.

Unyango lwehomoni yokukhula (unyango lwe-GH):

Ngolu nyango:

• Iphucula ulwakhiwo lomzimba womntwana, uphuhliso lwemisipha, kunye nomdla wokutya.
• Inciphisa umngcipheko wokuba nezinga eliphantsi leswekile egazini (hypoglycemia).
• Yandisa ukukhula .

Unyango lweengxaki zokutya nokusela

I-acid reflux inganyangwa ngolu hlobo lulandelayo:

• Nika ukutya okuncinci rhoqo .
• Ukubamba umntwana eme nkqo ngelixa etyisa.
• Amayeza: Ii-H2 blockers , ezinciphisa ukuveliswa kwe-asidi, kunye namayeza anamandla ngakumbi, afana nee -proton pump inhibitors , akwanceda ekunyangeni izilonda kwi-esophagus.
• I-Fundoplication : Le yinkqubo yotyando eqinisa ivalvu (i-sphincter) phakathi komqala kunye nesisu somntwana.

Unyango lwamanqanaba aphantsi eswekile egazini (iHypoglycemia)

Oku kungaphathwa ngolu hlobo lulandelayo:

• Ukubonelela ngokutya rhoqo .
• Izongezo zokutya.
• Ukutya okuqulethe iicarbohydrate ezintsonkothileyo .

Unyango lweengxaki zamazinyo

Iindlela ezahlukeneyo zonyango lwamazinyo, ezifana neebraces okanye utyando lomlomo, zinokufuneka ukuze kulungiswe iingxaki zamazinyo omntwana wakho.

Unyango lwezinye iingxaki

Ngamanye amaxesha izihlangu okanye iibraces ezikhethekileyo zinokunceda ukuphucula ukuhamba kunye nokulinganisela. Utyando lokulungisa ukungalingani kwamalungu alufuneki rhoqo.

Ungazilawula njani iimpawu?

Ukongeza kumayeza, ugqirha womntwana wakho unokucebisa ezinye iindlela zonyango. Ezi ziquka:

• Unyango lwezengqondo : Iingcali zengqondo (abasebenzi bezentlalo) zibonelela ngenkxaso yempilo yengqondo. Zinceda kwiingxaki ezinxulumene nokuzithemba komntwana, ubudlelwane nontanga, kunye nokusebenzisana nabantu.
• Ingcebiso ngezofuzo : Abacebisi ngezofuzo banokuqinisekisa ukuba umntwana wakho unesifo kwaye bakunike wena nosapho lwakho iingcebiso ezifunekayo.
• Unyango lomzimba : Iingcali zonyango lomzimba zinceda ukolula nokuqinisa izihlunu kunye nemisipha yomntwana ngokwenza umthambo womzimba.
• Unyango lomsebenzi : Iingcali zonyango lomsebenzi zinceda ngezinto ezifana nezakhono zomzimba ezintle, ukuqonda okubonakalayo, ukuqiqa kwengqondo, kunye nokusebenza kweemvakalelo.
• Unyango lokuthetha : Iingcali zonyango lwentetho zinceda ngeengxaki ezinxulumene nentetho, ulwimi, unxibelelwano, kunye nokutya nokuginya.

Ndingayinciphisa njani ingozi yokuba umntwana wam abe neRussell-Silver syndrome?

Isifo sikaRussell-Silver sisiphumo sotshintsho kwimfuza.Ngoko ke, akukho ndlela yokuthintela le meko. Ukuba uceba ukukhulelwa kwaye ufuna ukuqonda umngcipheko wokuba nomntwana onesifo semfuza, thetha nogqirha wakho malunga novavanyo lwemfuza ngaphambi kokuba ukhulelwe .

Yintoni endimele ndiyilindele ukuba umntwana wam une-Russell-Silver syndrome?

Isifo sikaRussell-Silver sisifo esihlala ubomi bonke . Nangona kunjalo, asinazo iziphumo ebezingalindelekanga ezisongela ubomi. Ungaba nethemba ngekamva lomntwana wakho. Kodwa kuxhomekeke ekuxilongweni nasekunyangweni. Umntwana wakho uya kufuna unyango olukhawulezileyo kunye nokulandelelana. Ukuba unyangwa kwangethuba nangempumelelo, umntwana wakho unokuphila ubomi obuqhelekileyo .

Yintoni umahluko phakathi kweRussell-Silver syndrome kunye neSilver syndrome?

Zombini ziimeko ezingaqhelekanga zemfuza ezibangelwa kukutshintsha kwejini. Nangona kunjalo, iSilver syndrome ibangelwa kukutshintsha kwejini yeBSCL2 . ISilver syndrome sisifo semfuza esibangela ukuqina kwemisipha (spasticity) kunye nokukhubazeka kwamalungu angaphantsi (paraplegia). Iimpawu zeSilver syndrome zihlala ziqala ebuntwaneni . Iimpawu zinokuba mandundu njengoko abantu bekhula, kodwa abantu abanale meko banokuphila ubomi obusebenzayo.

Ukuva ukuxilongwa kwesifo sikaRussell-Silver kunokuba nzima kakhulu. Nangona kunjalo, eyona nto ibalulekileyo ekufuneka uyikhumbule kukuba imeko yabantwana abazelwe nale meko idla ngokuba ntle. Ukuba ifunyenwe kwaye inyangwa kwangethuba, isifo sikaRussell-Silver asiyongxaki isongela ubomi. Iqela loogqirha abaziingcali liza kusebenza nawe kunye nomntwana wakho ukubanceda baphile ubomi obuqhelekileyo nobusempilweni.

Ngoko ke, zeziphi izinto esifanele sizikhumbule kweli bali? (Umyalezo Wokubuyela Ekhaya)

Kulungile, ndiyathemba ukuba ngoku uyiqonda ngcono iRussell-Silver Syndrome esithethe ngayo. Kuqhelekile ukuba uzive ukhathazekile xa usiva ngemeko efana nale. Nangona kunjalo, eyona nto ibalulekileyo kukungaphakuzeli, ufumane ulwazi olufanelekileyo, kwaye uthathe amanyathelo afunekayo.

• Isifo sikaRussell-Silver sisifo esingaqhelekanga esichaphazela ukukhula komntwana, ingakumbi ngaphambi nasemva kokuzalwa.
• Iimpawu ziyahluka kumntwana ngamnye, ngoko ke kubalulekile ukufuna iingcebiso zonyango ukuba unenkxalabo malunga nokukhula okanye ukubonakala komntwana wakho.
• Ukuxilongwa kwangoko kunye nokuqaliswa konyango olufanelekileyo yeyona nto ilungileyo kumntwana. Oku kufuna uncedo lweengcali ezahlukeneyo.
• Nangona le meko iqhubeka ubomi bonke, ayisongeli ubomi. Ukuba umntwana uphathwa ngendlela efanelekileyo, unokuphila ubomi obuqhelekileyo.
• Awuwedwa. Baninzi abantu abafana noogqirha, abacebisi, kunye neengcali zonyango abanokukunceda wena nomntwana wakho kule meko.

Okokugqibela, ungoyiki ukuthetha nogqirha malunga nazo naziphi na iingxaki onokuba nazo malunga nempilo yomntwana wakho. Ngolwalathiso olufanelekileyo nenkxaso, singoyisa naluphi na ucelomngeni.

Isifo sikaRussell -Silver, isifo sikaRussell-Silver, izifo zemfuza, uphuhliso lomntwana, ubunzima bokuzalwa obuphantsi, ubude obufutshane, ukulibaziseka kokukhula