Ese uhangayikishijwe n'imikurire y'umwana wawe? Reka twige kuri Russell-Silver Syndrome!

Ese wigeze wumva ko gukura k'umwana wawe gutinda gato? Cyangwa abaganga bavuze ko umwana yavutse afite ibiro bike cyangwa afite imiterere itandukanye? Hari igihe ibintu nk'ibi bishobora gutuma duhangayika cyane nk'ababyeyi. Uyu munsi, tugiye kuvuga ku kibazo kimwe kidasanzwe ariko cy'ingenzi tugomba kumenya. Icyo ni indwara ya Russell-Silver.

Ni nde ushobora kurwara iyi ndwara? Ni ku rugero rungana iki?

Mu by’ukuri, indwara ya Russell-Silver ishobora gufata umwana uwo ari we wese. Ifata abahungu n’abakobwa kimwe. Ariko, ni indwara idakunze kugaragara mu buryo bw’uturemangingo . Mu mibare, ifata umuntu umwe ku bana 15.000 kugeza ku mwana umwe ku bana 100.000 bavutse. Biragoye gutanga umubare nyawo, kuko rimwe na rimwe ibimenyetso by’iyi ndwara bisa n’iby’izindi ndwara zo mu mikurire, kandi rimwe na rimwe ntibimenyekane.

Iyi ndwara yavumbuwe bwa mbere mu 1953 na Dr. Henry Silver. Hanyuma mu 1954, Dr. Alexander Russell yavumbuye ibindi bintu byinshi. Mbere na mbere, mu myaka igera kuri 20, abashakashatsi batekerezaga ko aba bagabo babiri bavumbuye indwara ebyiri zitandukanye. Nyuma byaje kugaragara ko babonye ibintu bitandukanye by’indwara imwe. Niyo mpamvu ubu yitwa Russell-Silver syndrome. Mu bihugu bimwe na bimwe, cyane cyane mu Burayi, yitwa Silver-Russell syndrome.

Ni ibihe bimenyetso by'indwara ya Russell-Silver?

Iki ni cyo kintu cy'ingenzi cyane. Ibimenyetso bishobora gutandukana cyane bitewe n'umwana. Kandi bishobora kugira ingaruka ku bice bitandukanye by'umubiri. Reka turebe ibimenyetso by'ingenzi.

Ibiranga ikura

Hari ibintu byinshi byihariye bigomba kugaragara mu mikurire y'aba bana:

• Kugabanya imikurire y'imbere mu nda y'umubyeyi (IUGR): Ibi bivuze ko umwana adakura uko byari byitezwe akiri mu nda y'umubyeyi.
• Ubushobozi bwo kuvuka ari buke : Ubushobozi bwo kuvuka ari buke ugereranije n'ubusanzwe.
• Kunanirwa gukura no kwiyongera ibiro nyuma yo kubyara : Iki ni ikibazo ku babyeyi benshi.
• Mugufi : Kuba mugufi kurusha abandi bana b'ikigero kimwe.

Igihanga n'imiterere yo mu maso

Hari ibintu bimwe na bimwe bidasanzwe biboneka mu ishusho y'isura n'ingano y'umutwe w'aba bana:

• Kugira umutwe munini ugereranije n'ibindi bice by'umubiri (ugereranyije n'uburebure n'uburemere).
• Fontanelle , cyangwa ahantu horoshye ku mutwe, bifata igihe kugira ngo ipfundwe.
• Afite isura isa n'inyabutatu .
• Agahanga kagaragara imbere .
• Akanwa gato .
• Umusaya muto `(micrognathia)`.
• Inguni z'umunwa zisa n'aho zaragoswe .

Ibibazo by'amenyo

Hashobora kandi kuba hari ibibazo bimwe na bimwe bifitanye isano n'amenyo:

• Gutakaza amenyo amwe (hypodontia).
• Kugira amenyo mato adasanzwe (microdontia).
• Kwica amenyo menshi .
• Hari igihe habaho indwara nk'ihungabana ry'uruhu .

Izindi miterere y'umubiri

Hariho n'ibindi bintu byinshi biranga umubiri, ari byo:

• Itandukaniro mu burebure bw'amaboko n'amaguru ku mpande zombi (hemihypertrophy).
• Urutoki ruto rugondamye imbere (clinodactyly).
• Indwara ya Scoliose .

Ni izihe ngorane zishobora guterwa na Russell-Silver syndrome?

Ni ngombwa kumenya ingaruka z'umubiri za Russell-Silver syndrome, zishobora gutera ibibazo bitandukanye ku buzima bw'umwana wawe.

Ingorane zo kurya no kunywa

• Gukunda kurya : Umwana ashobora kubura ubushake bwo kurya.
• Gusubira inyuma kw'aside (GERD - Indwara yo gusubira inyuma kw'aside mu gifu): Ibi bivuze ko aside yo mu gifu izamuka ijya mu muhogo.
• Esophagitis : Iyi ndwara (GERD) ituma umwobo ubyimba.

Ibibazo bifitanye isano n'iterambere ry'imitsi

• Gutinda mu mikurire: Ibi bivuze ko ibintu nko kwizunguruka, kwicara no kugenda bitinda.
• Gutinda kuvuga .
• Itandukaniro mu myigire : Hari ingorane zimwe na zimwe zishobora kuvuka mu kazi k'ishuri.

Izindi ngorane

• Gutinda gukura .
• Kugorwa no kugenda cyangwa kugumana uburinganire .
• Isukari nke mu maraso (hypoglycemia).
• Ibibazo by'impyiko .
• Ibibazo ku bijyanye n'imyororokere n'inkari .

Ni gute indwara ya Russell-Silver igira ingaruka ku bantu bakuru?

Abantu bakuru barwaye indwara ya Russell-Silver akenshi baba bagufi . Abagabo baba bafite uburebure bwa metero 1.5 na santimetero 1.8. Abagore baba bafite uburebure bwa metero 1.5 na santimetero 1.8.

Nanone, ubushakashatsi bwagaragaje ko aba bantu baba bafite ibyago byo kurwara indwara nshya uko bagenda bakura. Muri zo harimo:

• Indwara ya metabolike.
• Kugabanuka k'umubyimba w'imitsi .
• Kugabanuka k'ubucucike bw'amagufwa .
• Kugabanuka k'ubushake bw'imibonano mpuzabitsina (hypogonadism).
• Kanseri y'inkari .
• Myoclonus dystonia : Iyi ni indwara itera kugenda mu buryo butunguranye kandi butagenzurwa.

Ni iki gitera iyi ndwara?

Mu by’ukuri indwara ya Russell-Silver ni indwara igoye cyane . Iterwa n’uturemangingo tumwe na tumwe tugenga imikurire y’umubiri.Ubu bizwi ko abantu bagera kuri 60% bafite iyi ndwara baterwa n'impinduka mu miterere ya chromosomes 7 cyangwa 11.

Ariko, igitangaje ni uko abantu bagera kuri 40% basanzwe bafite iyi ndwara mu buryo bw’ubuvuzi nta mpamvu igaragara ya genetiki. Birashoboka ko iyi ndwara iterwa n’impinduka mu ngero za chromosomes zitari ngero za 7 na 11. Abashakashatsi baracyakora iperereza ku zindi mpinduka mu ngero za genetiki zishobora kuba zirimo iyi ndwara.

Isuzuma rikorwa rite?

Indwara ya Russell-Silver rimwe na rimwe ishobora kugorana kuyisuzuma. Nkuko byavuzwe mbere, ibimenyetso n'ubukana bw'iyi ndwara biratandukanye cyane bitewe n'umwana. Ariko, muganga w'umwana wawe azabanza kumukorera isuzuma ryimbitse . Ashobora kandi kumusaba gupima ingirabuzimafatizo . Iri suzuma ry'ingirabuzimafatizo rishobora kwemeza ko iyi ndwara isanzwe igaragara mu bantu bagera kuri 60%.

Indwara ya Russell-Silver ivurwa ite?

Uburyo bwo kuvura iyi ndwara buratandukanye bitewe n'umwana. Biterwa n'ibimenyetso n'uburemere bw'iyi ndwara. Ikintu cy'ingenzi ni ugutangira kuvurwa vuba bishoboka . Iki ni cyo gihe umwana wawe azaba afite umusaruro mwiza ushoboka. Itsinda ry'inzobere rizavura umwana wawe. Iri tsinda rishobora kuba rigizwe na:

• Muganga w'abana w'umwana wawe.
• Umuganga w'indwara z'imikurire y'abana .
• Inzobere mu by'amagufwa .
• Umuganga w’inzobere mu by’imikorere y’umubiri (endocrinologists ) ni umuganga w’inzobere mu gukora imisemburo y’imisemburo n’imisemburo .
• Umuganga w’inzobere mu bijyanye n’igogora (inzobere mu ndwara zo mu nda).
• Inzobere mu by'imirire .
• Inzobere mu ndwara z'imitsi .
• Inzobere mu kuvura amenyo .
• Umuganga w’indwara zo kuvuga .
• Inzobere mu by'imitekerereze y'abantu .
• Umujyanama mu by'imiterere y'uturemangingo akaba n'umuhanga mu by'imiterere y'uturemangingo .

Uburyo bwo kuvura bugenwa hashingiwe ku miterere y'umwana:

Uburyo bwo kuvura ikura

Uburyo bw'ingenzi bwo kuvura umwana mu myaka ibiri ya mbere y'ubuzima bwe ni inkunga y'imirire . Abaganga bazakora ibishoboka byose kugira ngo umwana abone karori zikwiye. Iyo bibaye ngombwa, umuyoboro wo kugaburira ushobora gukoreshwa muri iyi ntego:

• Umuyoboro wo mu nda: Muri uyu muyoboro muto unyura mu mazuru y'umwana, mu muhogo no mu nda.
• Umuyoboro w'igifu: Muri ibi, hakorwa akato gato mu rukuta rw'igifu cy'umwana hanyuma umuyoboro ukinjizwa mu gifu.

Ubuvuzi bw'imisemburo ikura (ubuvuzi bwa GH):

Muri ubu buryo bwo kuvura:

• Binoza imiterere y'umubiri w'umwana, imikurire ye, n'ubushake bwo kurya.
• Bigabanya ibyago byo kugabanuka k'umubare w'isukari mu maraso (hypoglycemia).
• Yongera ikura .

Uburyo bwo kuvura ibibazo byo kurya no kunywa

Gusubira inyuma kw'aside bishobora kuvurwa ku buryo bukurikira:

• Tanga amafunguro make kandi ahoraho .
• Gufata umwana ahagaze neza mu gihe amwonsa.
• Imiti: Imiti igabanya aside, hamwe n'imiti ikomeye cyane, nka proton pump inhibitors , nayo ifasha mu gukiza ibisebe mu muhogo.
• Gukoresha ingano y'amaraso : Ubu ni uburyo bwo kubaga bukomeza umuyoboro w'amaraso (sphincter) uri hagati y'umuyoboro w'umwana n'igifu.

Kuvura isukari nke mu maraso (Hypoglycemia)

Ibi bishobora kuvurwa muri ubu buryo bukurikira:

• Gutanga ibiryo kenshi .
• Inyongeramusaruro ku mirire.
• Ibiribwa birimo karubohidrati iteye urusobe.

Uburyo bwo kuvura ibibazo by'amenyo

Uburyo butandukanye bwo kuvura amenyo, nko gukingira amenyo cyangwa kubagwa mu kanwa, bushobora kuba ngombwa kugira ngo hakosorwe ibibazo by'amenyo y'umwana wawe.

Kuvura izindi ngorane

Hari igihe inkweto cyangwa imishumi yihariye bishobora gufasha mu kunoza amaguru no kuringaniza imiterere y'umubiri. Kubagwa kugira ngo amaguru akosore ubusumbane ntabwo ari ngombwa cyane.

Ni gute wakwitwara mu gihe ibimenyetso bihari?

Uretse imiti, muganga w'umwana wawe ashobora kukugira inama y'ubundi buryo butandukanye bwo kuvura. Muri ubwo buryo harimo:

• Ubuvuzi bw'imibanire y'abantu : Abavuzi b'imibanire y'abantu (abakozi b'imibanire y'abantu) batanga ubufasha mu buzima bwo mu mutwe. Bafasha mu bibazo bijyanye no kwihesha agaciro k'umwana, imibanire y'abo bahuje igitsina, ndetse n'imibanire ye n'abandi.
• Ubujyanama ku bijyanye n'ingirabuzimafatizo : Abajyanama ku bijyanye n'ingirabuzimafatizo bashobora kwemeza ko umwana wawe yanduye kandi bakaguha wowe n'umuryango wawe inama zikenewe.
• Ubuvuzi bw'umubiri : Abavuzi b'umubiri bafasha kunagura no gukomeza imitsi n'imitsi by'umwana binyuze mu myitozo ngororamubiri.
• Ubuvuzi bw'akazi : Abavuzi b'akazi bafasha mu bintu nk'ubuhanga bwo gufata imitsi neza, kubona ibintu neza, gutekereza neza, no gutunganya ibyumviro.
• Ubuvuzi bw'imivugire : Abavuzi b'imivugire bafasha mu bibazo bijyanye no kuvuga, ururimi, itumanaho, ndetse no kurya no kumira.

Nagabanya nte ibyago by'uko umwana wanjye yarwara indwara ya Russell-Silver?

Indwara ya Russell-Silver ni ingaruka z'impinduka mu miterere y'uturemangingo.Bityo rero, nta buryo bwo kwirinda iki kibazo. Niba uteganya gutwita kandi ukaba ushaka gusobanukirwa ibyago byo kubyara umwana ufite ikibazo cy’uturemangingo, vugana na muganga wawe ku bijyanye no gupima uturemangingo mbere yo gutwita .

Ni iki nakwitega mu gihe umwana wanjye afite indwara ya Russell-Silver?

Indwara ya Russell-Silver ni indwara ibaho ubuzima bwose . Ariko, nta ngaruka mbi igira mu kaga. Ushobora kuba ufite icyizere ku hazaza h'umwana wawe. Ariko biterwa n'uko umwana afashwe n'indwara n'uburyo azavurwa. Umwana wawe azakenera ubuvuzi bwihuse no gukurikiranwa. Iyo avuwe hakiri kare kandi neza, umwana wawe ashobora kubaho ubuzima busanzwe .

Ni irihe tandukaniro riri hagati ya Russell-Silver syndrome na Silver syndrome?

Zombi ni indwara zidakunze kubaho mu miterere y’umubiri ziterwa n’impinduka mu miterere y’umubiri. Ariko, indwara ya Silver iterwa n’impinduka mu miterere y’umubiri y’umuntu (BSCL2 ). Indwara ya Silver ni indwara iterwa n’imitsi ikomera (spasticity) no gucika intege kw’ingingo zo hasi (paraplegia). Ibimenyetso bya Silver syndrome akenshi bitangira mu bwana . Ibimenyetso bishobora kwiyongera uko abantu bagenda bakura, ariko abantu bafite iyo ndwara bashobora kubaho ubuzima busanzwe.

Kumva indwara ya Russell-Silver syndrome bishobora kugutera ubwoba. Ariko, ikintu cy'ingenzi ugomba kwibuka ni uko icyizere ku bana bavukanye iyi ndwara akenshi kiba cyiza. Iyo igaragaye kandi ikavurwa hakiri kare, Russell-Silver syndrome ntabwo ari indwara ishobora gushyira ubuzima mu kaga. Itsinda ry'abaganga b'inzobere rizakorana nawe n'umwana wawe kugira ngo babashe kubaho ubuzima busanzwe kandi bufite ubuzima bwiza.

None se, ni ibihe bintu twagombye kwibuka muri iyi nkuru? (Ubutumwa bwo kujyana mu rugo)

Sawa, ndizera ko ubu wasobanukiwe neza indwara ya Russell-Silver Syndrome twavuze. Ni ibisanzwe kumva uhangayitse iyo wumvise indwara nk'iyi. Ariko, icy'ingenzi ni ukudatinya, kubona amakuru akwiye, no gufata ingamba zikenewe.

• Indwara ya Russell-Silver ni indwara idakunze kugaragara mu buryo bw'uturemangingo igira ingaruka ku mikurire y'umwana, cyane cyane mbere na nyuma yo kuvuka.
• Ibimenyetso biratandukanye bitewe n'umwana, bityo ni ngombwa gushaka inama kwa muganga niba ufite impungenge ku mikurire cyangwa uko umwana wawe agaragara.
• Gusuzuma umwana hakiri kare no gutangira kumuvura neza ni byiza cyane. Ibi bisaba ubufasha bw'inzobere zitandukanye.
• Nubwo iyi ndwara ikomeza ubuzima bwayo bwose, ntabwo ishyira ubuzima mu kaga. Iyo umwana afashwe neza, ashobora kubaho ubuzima busanzwe.
• Ntabwo uri wenyine. Hari abantu benshi nk'abaganga, abajyanama, n'abavuzi bashobora kugufasha wowe n'umwana wawe muri iki kibazo.

Hanyuma, ntugatinye kuvugana na muganga ku mpungenge ushobora kuba ufite ku buzima bw'umwana wawe. Dukoresheje ubuyobozi n'ubufasha bikwiye, dushobora gutsinda ikibazo icyo ari cyo cyose.

Indwara za Russell -Silver, Indwara za Russell-Silver, indwara zikomoka ku ngirabuzimafatizo, imikurire y'umwana, kuvukana ibiro bike, kuba mugufi, gutinda mu mikurire