Ngaba uyayazi i-ROHHAD Syndrome? Ngaba umntwana wakho unazo ezi mpawu?

Ngaba umntwana wakho omncinci ngequbuliso uqalile ukuba mkhulu kakhulu? Okanye ngaba uqaphele ukuba unengxaki yokuphefumla xa elele? Ngamanye amaxesha ezi zinokuba ziimpawu zesifo esingaqhelekanga esibizwa ngokuba yiROHHAD Syndrome. Makhe sithethe ngale nto ngokweenkcukacha, kuba kubaluleke kakhulu ukuqaphela izinto ezinje.

Yintoni i-ROHHAD Syndrome?

Ngamafutshane, i-ROHHAD Syndrome sisifo esingaqhelekanga nesisongela ubomi esichaphazela abantwana abancinci. Sichaphazela kakhulu inkqubo ye-endocrine, inkqubo ye-autonomic nervous, kunye nokuphefumla. Abantwana abanale meko banokutyeba kakhulu ngexesha elifutshane kakhulu . Banokufumana utshintsho kwiindlela zokuphefumla, ukuziphatha, kunye nokulawula iimvakalelo ngelixa belele kwaye ngamanye amaxesha xa bevukile.

I-ROHHAD syndrome yimeko entsha yezonyango. Yaqala ukuchongwa kwaye yachazwa ngo-1965. Ucinga ngayo, bekukho iimeko ezingaphantsi kwama-200 zale meko ezixeliweyo kwihlabathi liphela. Ngoko ke ungacinga ukuba ayiqhelekanga kangakanani. Iingcali zonyango zisaphanda le meko ukuze zifumane unobangela ochanekileyo kwaye zifumane unyango oluhlala luhleli. Okwangoku, akukho vavanyo okanye unyango oluthile lwe-ROHHAD syndrome. Ke ngoko, oogqirha banyanga umntwana ngamnye ngokwahlukileyo ngokweempawu zakhe.

Zithini iimpawu ze-ROHHAD syndrome?

Abantwana abane-ROHHAD syndrome bahlala besempilweni kwaye bekhula ngokwesiqhelo ngaphambi kokuba iimpawu zibonakale. Nangona iimpawu zinokubonakala kwangethuba kwiminyaka eli-9 ubudala, uninzi lwabantwana lubonisa iimpawu zabo zokuqala phakathi kweminyaka emi-2 ne-4 ubudala.

Igama elithi 'ROHHAD' livela koonobumba bokuqala beempawu ezine eziphambili zesi sifo. Makhe sijonge ukuba zeziphi:

• (RO) Ukutyeba ngokukhawuleza: Kulapho ukutya komntwana kukhula ngequbuliso kakhulu, nto leyo ekhokelela ekunyukeni okukhulu kobunzima obuziikhilogram ezingama-20-30 (iikhilogram ezili-9-13) kwixesha elifutshane, ngesiqhelo phakathi kweenyanga ezintathu ukuya kwezilishumi elinesibini. Olu luphawu lokuqala lokutyeba. Cinga ngako, akukokutyeba nje kuphela, lutshintsho olukhawulezayo nolubonakalayo.

• (H) Ukungasebenzi kakuhle kwe-Hypothalamic: I-hypothalamus yinxalenye yengqondo yakho elawula i-pituitary gland. Ikwalawula izinto ezininzi ezifana nokukhula komzimba, ubunzima, ukutya, ukufikisa, iimvakalelo, kunye nokuziphatha. Ngoko ke, ukuba kukho nayiphi na ingxaki ekusebenzeni kwayo, umntwanaIimpawu ezinje ngokutyeba kakhulu, ukufutshane emzimbeni, ukuxhuzula, ukulibaziseka kokukhula, ukwanda okanye ukuncipha kokuchama, kunye nokufikisa kwasekuqaleni okanye okulibazisekileyo kusenokubakho. Ukongeza, iimeko ezifana ne -hypothyroidism kunye nesifo seswekile nazo zinokubakho.

• (H) Ukuphelelwa ngamandla komoya: Abantwana abane-ROHHAD syndrome abakwazi ukulawula ukuphefumla kwabo ngokufanelekileyo. Oku kuthetha ukuba xa inqanaba leoksijini egazini lincipha okanye inqanaba lekhabhoni dayokhsayidi linyuka, umzimba awuphefumli nzulu okanye ngokukhawuleza ngokwaneleyo ukuze ubuyisele isiphumo. Le yimeko eyingozi kakhulu. Ngamanye amaxesha, inokwenzeka ngequbuliso, njengasemva kosulelo oluncinci lokuphefumla, njengomkhuhlane, okanye emva kwe-anesthesia.

• (AD) Ukungasebenzi Kakuhle Kweengqondo: Inkqubo yethu yemithambo-luvo (ANS) ilawula imisebenzi esisiseko esingenakuyilawula, njengokuphefumla, ukugaya ukutya, ukubetha kwentliziyo, kunye nobushushu bomzimba. Ngoko ke, abantwana abenzakeleyo kule nkqubo yemithambo-luvo ezimeleyo banokufumana iimpawu ezifana nokubetha kwentliziyo okucothayo ngokungaqhelekanga (iBradycardia), ubushushu bomzimba obuphantsi, kunye nokuncipha kokuqonda iintlungu . Khawuthelekelele, ukuziva iintlungu ezincinci kuthetha ukuba nokuba kwenzeke ingozi enkulu, umntwana usenokungazi.

Zithini izizathu ze-ROHHAD syndrome?

Enyanisweni, oogqirha abakafumani unobangela oqinisekileyo we-ROHHAD syndrome. Nangona kunjalo, kukho iingcamango ezintathu eziphambili eziphandwayo okwangoku ezinokusichaza.

1. I-Genetics: Abaphandi abaninzi bakholelwa ukuba i-ROHHAD syndrome ibangelwa kukuguquka kwe-genetic . Nangona kunjalo, i-gene echanekileyo ayikaziwa okwangoku. Yonke into emzimbeni wethu ilawulwa yi-genes, ngoko ke naluphi na utshintsho kuyo lunokuyichaphazela.

2. I-Epigenetics: Abanye abaphandi bakholelwa ukuba ii-genes ezilawula imisebenzi ethile emizimbeni yethu zinokuvulwa xa kufuneka zivulwe xa zingafuneki. Oku kubizwa ngokuba yi-epigenetics. Le ngcamango isekelwe kuphando olwenziwe kumawele afanayo. Kuyo, omnye umntwana waba ne-ROHHAD syndrome, ngelixa omnye engazange. Ngoko ke, kunokucingwa ukuba kungekuphela nje ii-genes, kodwa nomahluko kwindlela ezisebenza ngayo ezo genes unokukuchaphazela oku.

3. Ukungazinzi komzimba: Olunye uphando lubonisa ukuba i-ROHHAD syndrome ikwasisifo esibangelwa kukuzilawula komzimba.Kubekho unxibelelwano phakathi kwezifo ezizikhuselayo emzimbeni, apho inkqubo yomzimba yokuzikhusela ihlasela iiseli zayo. Kolunye uphando, abantwana ababini abane-ROHHAD syndrome bafunyenwe benee-antibodies ezibizwa ngokuba yi -immunoglobulins kwi-cerebrospinal fluid (CSF) , ulwelo olujikeleze ingqondo kunye nomqolo. Besebenzisa olu lwazi, abaphandi bagqibe kwelokuba kukho ukudumba kwinkqubo yemithambo-luvo ephakathi (CNS) , ingqondo kunye nomqolo. Oku kuthetha ukuba inkqubo yomzimba yokuzikhusela yayihlasela ingqondo ngempazamo.

Ziziphi iingxaki ze-ROHHAD syndrome?

Ukongeza kwiimpawu eziphambili esizixubushileyo ngaphambili, abantwana abane-ROHHAD syndrome banokufumana ezinye iingxaki , oko kukuthi, iingxaki zempilo ezongezelelweyo. Kubalulekile ukuzazi ezi:

• Iingxaki zengqondo nezokuziphatha: Aba bantwana banokuba neemeko ezinje ngokungakwazi ukuzibamba, ukuba ndlongondlongo, ukusebenza kakhulu, ukudinwa rhoqo, ixhala, uxinezeleko, kunye nokukhubazeka kwengqondo . Ezi zinto zinokuchaphazela ubomi bemihla ngemihla bomntwana kunye nosapho.

• Iingxaki zenkqubo yemithambo-luvo: Abantwana abane-ROHHAD syndrome banokufumana iimeko ezifana nokuxhuzula, iintshukumo ezingaqhelekanga zamehlo (i-nystagmus), i-sleep apnea, okanye iingxaki zokukhula .

• Iingxaki zeMetabolic: Ezona ngxaki zixhaphakileyo zemetabolism phakathi kwaba bantwana yiDiabetes Mellitus, ukuxhathisa i-insulin, ukunganyamezeli iglucose kakuhle, kunye nesifo sesibindi seSteatotic (amafutha). Ezi ziimeko ezinokuba nemiphumo yempilo yexesha elide.

• Iithumba zemithambo-luvo: Phakathi kwama-40% nama-56% abantwana abane-ROHHAD syndrome bavelisa iithumba zemithambo-luvo. Umzekelo omnye luhlobo lwethumba olubizwa ngokuba yi-ganglioneuroma . Uninzi lwezi thumba azinabungozi , kodwa ngamanye amaxesha zinokuba yingozi . Ke ngoko, oogqirha bahlala bekhangela oku.

• Ukuma kwentliziyo nokuphefumla: Le yeyona ngxaki iyingozi kakhulu. Kukuyeka ukuphefumla ngequbuliso kunye nokusebenza kwentliziyo. Oku kunokuba yingozi ebomini.

Ifunyanwa njani i-ROHHAD syndrome? (Ukuxilongwa)

Okwangoku, i-ROHHAD syndrome ibizwa ngokubaAkukho vavanyo lunye olunokuqinisekisa ngokuqinisekileyo ukuba unesifo. Endaweni yoko, iqela leengcali zonyango lisebenzisana ukwenza uxilongo olusekelwe kudibaniso olulodwa lweempawu zomntwana. Kufana nomcuphi, eqokelela ubungqina aze afikelele kwisigqibo.

Ukuze umntwana afunyaniswe ene-ROHHAD syndrome, kufuneka ahlangabezane nezi mfuno zilandelayo:

• Zombini iimpawu zokuqala ngequbuliso kokutyeba kakhulu kunye nokuphelelwa ngamandla komoya ngexesha lokulala kufuneka zibe khona.
• Iimpawu zokungasebenzi kakuhle kwe-hypothalamic (umz., ukunyuka kobunzima ngokukhawuleza, i-hypothyroidism, okanye utshintsho ekufikiseni - kwasekuqaleni okanye emva kwexesha) kufuneka zibekho.
• Kubalulekile ukuqinisekisa ukuba akukho tshintsho (utshintsho lwezakhi zofuzo) kwi-gene `PHOX2B`. Oku kubalulekile ukuze kwahlulwe kwi -`CCHS (Congenital Central Hypoventilation Syndrome),` enye imeko eneempawu ezifana ne-ROHHAD syndrome (umz., ukuncipha kokuphefumla ngelixa ulele).
• Ezi mpawu zisenokungabonakali kwiminyaka embalwa yokuqala yobomi. Zidla ngokuqala kamva.

Ngenxa yokuba isifo se-ROHHAD sisifo esingaqhelekanga, abantwana banokungafumani zimpawu ekuqaleni. Ke ngoko, ukuba unale mpawu, kubaluleke kakhulu ukufuna ingcebiso efanelekileyo kwiqela lezonyango elinamava.

Inyangwa njani i-ROHHAD syndrome? (Unyango)

Unyango lwe-ROHHAD syndrome luyahluka kumntwana ngamnye, kuxhomekeke kwiimpawu. Ayingomntwana ngamnye onokunikwa isicwangciso sonyango esifanayo, kuba imeko yomntu wonke yahlukile. Nangona kunjalo, kukho into enye efanayo kubo bonke. Ukuba umntwana onesifo se-ROHHAD syndrome ubonakalisa iingxaki zokuphefumla ngelixa elele, kuya kufuneka asebenzise umatshini obizwa ngokuba yi-'CPAP' okanye i-'BiPAP' ukuze amncede aphefumle. Ekuhambeni kwexesha, kunokufuneka asebenzise i-'ventilator' ukuxhasa ngokupheleleyo inkqubo yokuphefumla. Le yinkqubo esindisa ubomi.

Xa kunyangwa abantwana abane-ROHHAD syndrome, uncedo lweengcali zabantwana kwiinkalo ezahlukeneyo luyafuneka. Umzekelo:

• Iingcali zePulmonologists
• Iingcali ze-Neurology
• Iingcali ze-Endocrinologists (oogqirha abaziingcali kwi-endocrine glands (ii-hormone))
• Iingcali ze-Otolaryngologists (Iingcali zeendlebe, iimpumlo, umphimbo)
• Iingcali zentliziyo
• Iingcali zokulala
• Iingcali zezondlo
• Iingcali zomhlaza
• Iingcali zengqondo
• Iingcali zengqondo

Kungobunye babo bonke aba bantu apho sizama ukubonelela ngonyango olungcono kumntwana.

Liyintoni ikamva labantwana abane-ROHHAD syndrome? (Imbono)

Enyanisweni, okwangoku akukho nyango lwe-ROHHAD syndrome. Injongo ephambili yonyango kukulawula iimpawu ezizodwa kumntwana ngamnye nokugcina umgangatho wobomi bomntwana ungcono kangangoko.

I-ROHHAD Syndrome kunye nolindelo lobomi

Ngenxa yokuba isifo se-ROHHAD sisifo esingaqhelekanga, kunzima ukuqikelela ngokuchanekileyo ixesha lokuphila. Akukho datha yaneleyo ngaso okwangoku.

Nangona kunjalo, imbangela ephambili yokufa ngenxa yesi sifo yingxaki ebizwa ngokuba yi -cardiorespiratory arrest, ekukuphela ngequbuliso kokusebenza kwentliziyo kunye nenkqubo yokuphefumla .

Ngaba oku kungathintelwa? (Ukuthintela)

Okwangoku akukho ndlela eyaziwayo yokuthintela isifo se-ROHHAD - ubuncinane okwangoku.

Isifo se-ROHHAD sisifo esingaqhelekanga nesintsha. Ngoko ke uphando ngale meko lusekwinqanaba lokuqala. Xa ucinga ngempilo yomntwana wakho, yonke imihla edlula ngaphandle kwempendulo ingavakala ngathi yinto engunaphakade. Siyaqonda loo nto. Ngoko ke, qiniseka ukuba ucela uncedo kugqirha wakho. Uya kukwazi ukukunika iingcebiso malunga nonyango olufunekayo ukulawula iimpawu zomntwana wakho, kunye nemithombo yolwazi malunga nale meko.

Ezona zinto zibalulekileyo esifanele sizithathele ekhaya kweli bali (Umyalezo Wokubuyela Ekhaya)

Kulungile, ngoku sele uyiqonda kakuhle i-ROHHAD Syndrome esithethe ngayo. Nazi izinto ezibalulekileyo ekufuneka uzikhumbule:

• I-ROHHAD syndrome yimeko engaqhelekanga kakhulu, kodwa imbi kakhulu.
• Iimpawu eziphambili kukunyuka kobunzima ngequbuliso, ubunzima bokuphefumla, kunye neengxaki zeehomoni kunye nenkqubo yemithambo-luvo ezimeleyo.
• Akukho sizathu sicacileyo okanye unyango olusisigxina lwale nto okwangoku. Unyango lusekelwe kwiimpawu ezivelayo.
• Ukuba ukrokrela ukuba umntwana wakho unezi mpawu, musa ukoyika, kodwa bonana nogqirha ofanelekileyo ngoko nangoko ukuze akunike ingcebiso.
• Ngenxa yokuba esi sisifo esingaqhelekanga, kungathatha ixesha ukufumana uxilongo oluchanekileyo. Kodwa ungayeki.
• Kubaluleke kakhulu ukulandela iingcebiso zoogqirha nokunika umntwana inkxaso efunekayo.

Khumbula, awuwedwa. Kubalulekile ukufuna inkxaso koogqirha, kusapho, kwaye ukuba kuyimfuneko, kwiinkonzo zokunika iingcebiso xa ujongene neemeko ezinje.

Isifo seROHHAD , Isifo seROHHAD, Izifo zabantwana, Ukutyeba ngokugqithisileyo, Ubunzima bokuphefumla, iHypothalamus, Izifo ezingaqhelekanga