Ese uzi indwara ya ROHHAD? Ese umwana wawe afite ibi bimenyetso?

Ese umwana wawe yatangiye gukura cyane mu buryo butunguranye? Cyangwa wabonye ko afite ikibazo cyo guhumeka mu gihe asinziriye? Hari igihe ibi bishobora kuba ibimenyetso by'indwara idakunze kugaragara yitwa ROHHAD Syndrome. Reka tubiganireho mu buryo burambuye, kuko ni ngombwa cyane kumenya ibintu nk'ibi.

Indwara ya ROHHAD ni iki?

Muri make, indwara ya ROHHAD Syndrome ni indwara idakunze kugaragara, ishobora gushyira ubuzima bw'abana bato mu kaga. Ikunze kugira ingaruka ku mikorere y'imisemburo, ku mikorere y'ubwonko, no ku guhumeka. Abana bafite iyi ndwara bashobora kongera ibiro mu gihe gito cyane . Bashobora kandi kugira impinduka mu mikorere y'ubuhumekero, imyitwarire, no mu mikorere y'amarangamutima mu gihe basinziriye ndetse rimwe na rimwe bakangutse.

Indwara ya ROHHAD ni indwara nshya cyane. Yamenyekanye bwa mbere kandi isobanurwa mu 1965. Ubitekerejeho, hari abantu batarenze 200 bagaragaye ku isi yose barwaye iyi ndwara. Bityo rero ushobora kwiyumvisha ukuntu idakunze kubaho. Impuguke mu by'ubuvuzi ziracyakora ubushakashatsi kuri iyi ndwara kugira ngo zibone impamvu nyayo kandi zibone umuti urambye. Kuri ubu, nta kizamini cyangwa uburyo bwihariye bwo kuvura indwara ya ROHHAD burahari. Kubwibyo, abaganga bavura buri mwana ku giti cye bitewe n'ibimenyetso bye.

Ni ibihe bimenyetso by'indwara ya ROHHAD?

Abana barwaye indwara ya ROHHAD baba bafite ubuzima bwiza kandi bakura neza mbere yuko ibimenyetso bigaragara. Nubwo ibimenyetso bishobora kugaragara kuva ku myaka 9, abana benshi bagaragaza ibimenyetso byabo bya mbere hagati y'imyaka 2 na 4.

Izina 'ROHHAD' rikomoka ku nyuguti za mbere z'ibimenyetso bine by'ingenzi by'iyi ndwara. Reka turebere hamwe ibyo ari byo:

• (RO) Umubyibuho ukabije utangira vuba: Iki ni cyo gihe ubushake bw'umwana bwo kurya buzamuka cyane, bigatuma yongera ibiro bingana na 20-30 kg (9-13 kg) mu gihe gito, akenshi hagati y'amezi atatu na cumi n'abiri. Iki akenshi ni cyo kimenyetso cya mbere cy'umubyibuho ukabije. Tekereza nawe, si ukwiyongera ibiro gusa, ahubwo ni impinduka yihuse cyane kandi igaragara.

• (H) Kudakora neza kw'imyakura: Hypothalamus ni igice cy'ubwonko bwawe kigenzura imyakura ya pituitary. Inagenzura ibintu byinshi nko gukura k'umubiri, ibiro, ubushake bwo kurya, ubwangavu, amarangamutima, n'imyitwarire. Rero, niba hari ikibazo mu mikorere yayo, umwanaIbimenyetso nko kubyibuha cyane, kuba mugufi, gucika intege, kudakura neza, kwiyongera cyangwa kugabanuka k'inkari, ndetse no kuba mu bwana cyangwa mu gihe cy'ubugimbi bishobora kubaho. Byongeye kandi, indwara nka hypothyroidism na diyabete na zo zishobora kubaho.

• (H) Guhumeka mu buryo butunguranye: Abana bafite indwara ya ROHHAD ntibashobora kugenzura uburyo bahumeka neza. Ibi bivuze ko iyo urugero rwa ogisijeni mu maraso rugabanutse cyangwa urugero rwa dioxyde de carbone rwiyongera, umubiri ntuhumeka cyane cyangwa vuba bihagije kugira ngo wishyure. Iyi ni indwara iteje akaga cyane. Hari igihe ishobora kubaho mu buryo butunguranye, nko nyuma yo kwandura indwara nto z’ubuhumekero, nko kuba warafashwe ibicurane, cyangwa nyuma yo gusinziriza.

• (AD) Kudakora neza kw'umubiri: Uturemangingo tw'imitsi twigenga (ANS) tw'umubiri wacu tugenzura imikorere y'ibanze tudashobora kugenzura, nko guhumeka, igogora, umuvuduko w'umutima, n'ubushyuhe bw'umubiri. Rero, abana bangiritse kuri iyi sisitemu y'imitsi yigenga bashobora kugira ibimenyetso nko gutera buhoro ku mutima (Bradycardia), ubushyuhe buke bw'umubiri, no kugabanuka k'ububabare . Tekereza, kumva ububabare buke bivuze ko no mu mpanuka ikomeye, umwana ashobora kuba atabizi.

Ni izihe mpamvu zitera indwara ya ROHHAD?

Mu by’ukuri, abaganga ntibarabona impamvu nyayo itera indwara ya ROHHAD. Ariko, hari inyigisho eshatu z’ingenzi zirimo gukorwaho ubushakashatsi zishobora kuyisobanura.

1. Genetics: Abashakashatsi benshi bemeza ko indwara ya ROHHAD iterwa n'impinduka mu ngirabuzimafatizo . Ariko, gene nyayo ntabwo iramenyekana. Ibintu byose biri mu mubiri wacu bigenzurwa na gene, bityo impinduka iyo ari yo yose ishobora kubigiraho ingaruka.

2. Epigenetics: Abashakashatsi bamwe bizera ko ingirabuzimafatizo zigenzura imikorere imwe n'imwe mu mibiri yacu zishobora gukoreshwa iyo bikenewe no kuzimwa iyo bidakenewe. Ibi byitwa epigenetics. Iki gitekerezo gishingiye ku bushakashatsi bwakozwe ku mpanga zisa. Muri bwo, umwana umwe yarwaye indwara ya ROHHAD, mu gihe undi atabikoze. Bityo, dushobora gutekereza ko atari ingirabuzimafatizo gusa, ahubwo n'itandukaniro mu mikorere y'izo ngirabuzimafatizo rishobora kugira ingaruka kuri ibi.

3. Ubudahangarwa bw'umubiri: Ubushakashatsi bumwe bwerekana ko indwara ya ROHHAD nayo ari indwara iterwa n'ubwiyongere bw'umubiri.Hari isano iri hagati y’indwara ziterwa n’ubwiyongere bw’umubiri, aho ubudahangarwa bw’umubiri bwibasira uturemangingo twawo. Mu bushakashatsi bumwe, abana babiri barwaye indwara ya ROHHAD basanze bafite uturemangingo twitwa immunoglobulins mu mazi yo mu bwonko (CSF) , amazi akikije ubwonko n’umugongo. Bakoresheje aya makuru, abashakashatsi basanze hari ububyimbirwe mu mitsi yo mu bwonko (CNS) , ubwonko n’umugongo. Ibi bivuze ko ubudahangarwa bw’umubiri bwibasira ubwonko mu buryo butari bwo.

Ni izihe ngorane ziterwa na syndrome ya ROHHAD?

Uretse ibimenyetso by'ingenzi twavuze mbere, abana barwaye indwara ya ROHHAD bashobora kugira izindi ngorane , ni ukuvuga izindi ngorane z'ubuzima. Ni ngombwa kumenya ibi kandi:

• Ibibazo byo mu mutwe no mu myitwarire: Aba bana bashobora kugira ibibazo nko kubura amahoro, gukaza umurego, gukora cyane, umunaniro uhoraho, guhangayika, kwiheba, n'ubumuga bwo mu mutwe . Ibi bishobora kugira ingaruka ku buzima bwa buri munsi bw'umwana ndetse no ku muryango we.

• Ibibazo by'imitsi: Abana bafite indwara ya ROHHAD bashobora kugira indwara nko gucika intege, kwimuka kw'amaso ku buryo budasanzwe (nystagmus), guhumeka nabi mu gihe cyo gusinzira, cyangwa indwara zo mu mikurire .

• Indwara za metabolike: Indwara zikunze kugaragara cyane muri aba bana ni Diyabete Mellitus, Ubudahangarwa bwa insuline, Kunanirwa kwihanganira isukari, n'indwara z'umwijima ziterwa n'ibinure. Izi ni indwara zishobora kugira ingaruka ku buzima mu gihe kirekire.

• Ibibyimba byo mu mitsi: Hagati ya 40% na 56% by'abana barwaye indwara ya ROHHAD barwara ibibyimba byo mu mitsi. Urugero rumwe ni ubwoko bwa kanseri yitwa ganglioneuroma . Ibyinshi muri ibi bibyimba ni bibi , ariko rimwe na rimwe bishobora kuba bibi . Kubwibyo, abaganga bahora babishakisha.

• Guhagarara k'umutima n'ubuhumekero: Iki ni cyo kibazo giteje akaga cyane. Ni uguhagarika guhumeka mu buryo butunguranye no gukora k'umutima. Ibi bishobora gushyira ubuzima mu kaga.

Indwara ya ROHHAD ipimwa ite? (Isuzuma)

Muri iki gihe, indwara ya ROHHAD yitwaNta kizamini na kimwe gishobora kwemeza neza ko indwara yanduye. Ahubwo, itsinda ry'inzobere mu by'ubuvuzi rikorana kugira ngo rikore isuzuma rishingiye ku bimenyetso by'umwana bitandukanye . Ni nk'umupolisi ukusanya ibimenyetso maze agafata umwanzuro.

Kugira ngo umwana amenyekane ko afite indwara ya ROHHAD, agomba kuba yujuje ibi bikurikira:

• Ibimenyetso byombi by’umubyibuho ukabije utangiye gutunguranye ndetse no guhumeka buhoro buhoro mu gihe cyo gusinzira bigomba kuba bihari.
• Ibimenyetso by'imikorere mibi y'umubiri mu mubiri (urugero: kwiyongera ibiro vuba, hypothyroidism, cyangwa impinduka mu bugimbi - hakiri kare cyangwa nyuma) bigomba kugaragara.
• Ni ngombwa kwemeza ko nta mpinduka (gene variant) igaragara muri gene `PHOX2B`. Ibi ni ingenzi kugira ngo uyitandukanye na `CCHS (Congenital Central Hypoventilation Syndrome),` indi ndwara ifite ibimenyetso bimwe na bimwe bisa na syndrome ya ROHHAD (urugero: kugabanuka k'ubuhumekero mu gihe usinziriye).
• Ibi bimenyetso bishobora kutagaragara mu myaka mike ya mbere y'ubuzima. Akenshi bitangira nyuma.

Kubera ko indwara ya ROHHAD idakunze kugaragara, abana bashobora kubanza kwibeshya. Kubwibyo, niba ufite ibi bimenyetso, ni ngombwa cyane gushaka inama zikwiye ku ikipe y’abaganga b’inararibonye.

Indwara ya ROHHAD ivurwa ite? (Ubuvuzi)

Uburyo bwo kuvura indwara ya ROHHAD buratandukanye bitewe n'umwana, bitewe n'ibimenyetso. Si buri mwana wese ushobora guhabwa gahunda imwe yo kuvura, kuko imimerere ya buri wese itandukanye. Ariko, hari ikintu kimwe gihuriweho na bose. Iyo umwana ufite indwara ya ROHHAD agaragaje ibibazo byo guhumeka mu gihe asinziriye, azakenera gukoresha imashini yitwa `CPAP` cyangwa `BiPAP` kugira ngo imufashe guhumeka. Uko igihe kigenda gihita, ashobora gukenera gukoresha `amashini ihumeka` kugira ngo ashyigikire burundu inzira yo guhumeka. Ubu buryo ni uburyo bwo kurokora ubuzima.

Mu kuvura abana bafite indwara ya ROHHAD, ubufasha bw'abaganga b'abana mu nzego zitandukanye burakenewe. Urugero:

• Abaganga b'indwara z'ibihaha
• Abaganga b'indwara z'imitsi
• Abaganga b'inzobere mu mikorere y'imisemburo (hormones)
• Abaganga b'amagufwa y'amaso (Inzobere mu gutwi, amazuru, imihogo)
• Abaganga b'indwara z'umutima
• Inzobere mu bijyanye no gusinzira
• Abahanga mu by'imirire
• Abaganga b'inzobere mu kuvura kanseri
• Abahanga mu by'imitekerereze y'abantu
• Abaganga b'indwara zo mu mutwe

Ni mu bumwe bw'aba bantu bose duharanira gutanga ubuvuzi bwiza ku mwana.

Ni iki kizaba ku bana bafite indwara ya ROHHAD? (Outlook)

Mu by’ukuri, nta muti uhari kuri ubu wa ROHHAD syndrome. Intego nyamukuru yo kuvura ni ukuvura ibimenyetso byihariye kuri buri mwana no kubungabunga ubuzima bw’umwana uko bishoboka kose.

Indwara ya ROHHAD n'igihe umuntu ategereje kubaho

Kubera ko indwara ya ROHHAD ari indwara idasanzwe, biragoye kumenya neza igihe umuntu azamara arwaye. Nta makuru ahagije ahagije kuri yo kugeza ubu.

Ariko, impamvu nyamukuru y’urupfu rukomoka kuri iyi ndwara ni ikibazo cyitwa guhagarika umutima n’ubuhumekero, ari na cyo gihosha gitunguranye imikorere y’umutima n’iy’ubuhumekero .

Ese ibi bishobora kwirindwa? (Kwirinda)

Kugeza ubu nta buryo buzwi bwo kwirinda indwara ya ROHHAD - nibura ntabwo buhari.

Indwara ya ROHHAD ni indwara idakunze kugaragara kandi nshya. Ubushakashatsi kuri iyi ndwara buracyari mu ntangiriro. Iyo utekereje ku buzima bw'umwana wawe, buri munsi ushira nta gisubizo ushobora kumva nk'igihe kirekire. Turabyumva. Rero, menya neza ko ushaka ubufasha kwa muganga wawe. Azashobora kukugira inama ku buryo bwo kuvura bukenewe kugira ngo ucunge ibimenyetso by'umwana wawe, ndetse n'amasoko y'amakuru kuri iyi ndwara.

Ibintu by'ingenzi cyane dukwiye kujyana mu nkuru (Ubutumwa bwo kujyana mu rugo)

Noneho rero, ubu usobanukiwe neza indwara ya ROHHAD twavuze. Dore ibintu by'ingenzi ugomba kwibuka:

• Indwara ya ROHHAD ni indwara ikunze kugaragara cyane, ariko ikomeye cyane.
• Ibimenyetso by'ingenzi ni ukwiyongera ibiro mu buryo butunguranye, kugorwa no guhumeka, hamwe n'ibibazo by'imisemburo n'imikorere y'ubwonko.
• Nta mpamvu cyangwa umuti urambye uraboneka kugeza ubu. Ubuvuzi bushingira ku bimenyetso bivuka.
• Niba ukeka ko umwana wawe afite ibi bimenyetso, ntugatinye, ahubwo hita ubonana na muganga wujuje ibisabwa kugira ngo akugire inama.
• Kubera ko iyi ari indwara idakunze kugaragara, bishobora gufata igihe kugira ngo umuntu amenye neza indwara ye. Ariko ntucike intege.
• Ni ngombwa cyane gukurikiza inama z'abaganga no guha umwana ubufasha bukenewe.

Wibuke ko utari wenyine. Ni ngombwa gushaka ubufasha ku baganga, umuryango, ndetse nibiba ngombwa, serivisi z'ubujyanama mu gihe uhanganye n'ibibazo nk'ibi.

` Indwara ya ROHHAD, Indwara ya ROHHAD, Indwara z'abana, Umubyibuho ukabije utunguranye, Kunanirwa guhumeka, Hypothalamus, Indwara zidasanzwe