Uyazi nge-ROHHAD Syndrome? Ingabe ingane yakho inalezi zimpawu?

Ingabe ingane yakho encane isiqalile ukukhula kakhulu ngokuzumayo? Noma uke waphawula ukuthi inobunzima bokuphefumula ngenkathi ilele? Ngezinye izikhathi lokhu kungaba izimpawu zesimo esingavamile kakhulu esibizwa ngokuthi i-ROHHAD Syndrome. Ake sixoxe ngalokhu ngemininingwane ethe xaxa, ngoba kubaluleke kakhulu ukuqaphela izinto ezinjengalezi.

Iyini i-ROHHAD Syndrome?

Kalula nje, i-ROHHAD Syndrome iyisimo esingavamile, esisongela ukuphila esithinta izingane ezincane. Sithinta kakhulu uhlelo lwe-endocrine, uhlelo lwezinzwa oluzimele, kanye nokuphefumula. Izingane ezinalesi simo zingaba nesisindo esikhulu ngesikhathi esifushane kakhulu . Zingaphinde zithole izinguquko emaphethini okuphefumula, ekuziphatheni, kanye nasekulawuleni imizwa ngenkathi zilele futhi ngezinye izikhathi zivukile.

I-ROHHAD syndrome yisimo sezokwelapha esisha kakhulu. Saqala ukutholakala futhi sachazwa ngo-1965. Uma ucabanga ngakho, kube nezimo ezingaphansi kuka-200 zalesi simo ezibikwe emhlabeni wonke. Ngakho-ke ungacabanga ukuthi singavamile kangakanani. Ochwepheshe bezokwelapha basacwaninga ngalesi simo ukuze bathole imbangela eqondile futhi bathole ikhambi elihlala njalo. Njengamanje, akukho ukuhlolwa noma ukwelashwa okuqondile kwe-ROHHAD syndrome. Ngakho-ke, odokotela belapha ingane ngayinye ngokwezimpawu zayo.

Ziyini izimpawu ze-ROHHAD syndrome?

Izingane ezine-ROHHAD syndrome zivame ukuba nempilo enhle futhi zikhula kahle ngaphambi kokuba izimpawu zivele. Nakuba izimpawu zingavela zisencane zineminyaka engu-9, iningi lezingane libonisa izimpawu zazo zokuqala ziphakathi kweminyaka engu-2 no-4.

Igama elithi 'ROHHAD' lisuselwa ezincwadini zokuqala zezimpawu ezine eziyinhloko zalesi sifo. Ake sibheke ukuthi ziyini:

• (RO) Ukukhuluphala Okusheshayo: Lokhu kwenzeka lapho isifiso somntwana sikhula ngokuzumayo kakhulu, okuholela ekukhuleni okukhulu kwesisindo esingamakhilogremu angu-9-13 (amakhilogremu angu-20-30) esikhathini esifushane, ngokuvamile phakathi kwezinyanga ezintathu kuya kweziyishumi nambili. Lokhu kuvame ukuba uphawu lokuqala lokukhuluphala. Cabanga ngakho, akusikho nje ukukhuluphala, kodwa ushintsho olusheshayo nolubonakalayo.

• (H) Ukungasebenzi Kahle Kwe-Hypothalamic: I-hypothalamus iyingxenye yobuchopho bakho elawula i-pituitary gland. Iphinde ilawule izinto eziningi njengokukhula komzimba, isisindo, isifiso sokudla, ukuthomba, imizwa, kanye nokuziphatha. Ngakho-ke, uma kukhona inkinga ekusebenzeni kwayo, inganeIzimpawu ezifana nokukhuluphala ngokweqile, ubude obufushane, ukuxhuzula, ukubambezeleka kokukhula, ukwanda noma ukwehla kokuchama, kanye nokuthomba kusenesikhathi noma ukubambezeleka kungase kube khona. Ngaphezu kwalokho, izimo ezifana ne -hypothyroidism kanye nesifo sikashukela nazo zingase zivele.

• (H) Ukuphefumula Okuphansi: Izingane ezine-ROHHAD syndrome azikwazi ukulawula ukuphefumula kwazo ngendlela efanele. Lokhu kusho ukuthi lapho izinga lomoya-mpilo egazini lehla noma izinga le-carbon dioxide likhuphuka, umzimba awuphefumuli ngokujulile noma ngokushesha okwanele ukuze kulungiswe. Lesi yisimo esiyingozi kakhulu. Ngezinye izikhathi, singavela ngokuzumayo, njengangemva kokutheleleka okuncane kokuphefumula, njengomkhuhlane, noma ngemva kokubulala izinzwa.

• (AD) Ukungasebenzi Kahle Komzimba: Uhlelo lwezinzwa oluzimele lomzimba wethu (i-ANS) lulawula imisebenzi eyisisekelo esingenakuyilawula, njengokuphefumula, ukugaya ukudla, ukushaya kwenhliziyo, kanye nokushisa komzimba. Ngakho-ke, izingane ezilimele kulolu hlelo lwezinzwa oluzimele zingase zibe nezimpawu ezifana nokushaya kwenhliziyo okuhamba kancane ngendlela engavamile (i-Bradycardia), ukushisa komzimba okuphansi, kanye nokwehla kokubona ubuhlungu . Cabanga nje, ukuzwa ubuhlungu obuncane kusho ukuthi ngisho nasengozini enkulu, ingane ingase ingazi ngakho.

Yiziphi izimbangela ze-ROHHAD syndrome?

Eqinisweni, odokotela abakayitholi imbangela eqondile ye-ROHHAD syndrome. Kodwa-ke, kunemibono emithathu eyinhloko ecwaningwayo njengamanje engayichaza.

1. Izakhi zofuzo: Abacwaningi abaningi bakholelwa ukuthi i-ROHHAD syndrome ibangelwa ukuguquka kwezakhi zofuzo . Kodwa-ke, isakhi sofuzo esiqondile asikaziwa okwamanje. Konke emzimbeni wethu kulawulwa izakhi zofuzo, ngakho-ke noma yiluphi ushintsho olukuso lungasithinta.

2. I-Epigenetics: Abanye abacwaningi bakholelwa ukuthi izakhi zofuzo ezilawula imisebenzi ethile emizimbeni yethu zingavulwa uma kudingeka futhi zicinywe uma kungadingeki. Lokhu kubizwa ngokuthi i-epigenetics. Lo mbono usekelwe ocwaningweni olwenziwe kumawele afanayo. Kuwo, ingane eyodwa yaba ne-ROHHAD syndrome, kanti enye ayizange. Ngakho-ke, kungacatshangwa ukuthi hhayi izakhi zofuzo kuphela, kodwa nomehluko endleleni lawo mazakhi zofuzo asebenza ngayo ungathinta lokhu.

3. Ukuzivikela komzimba: Ucwaningo oluthile lusikisela ukuthi i-ROHHAD syndrome nayo iyisifo sokuzivikela komzimba.Kube nokuxhumana phakathi kwezifo ezihlasela amasosha omzimba, lapho isimiso somzimba sokuzivikela sihlasela amangqamuzana aso. Kokunye ukuhlola, izingane ezimbili ezine-ROHHAD syndrome zitholakale zine-antibodies ezibizwa ngokuthi ama-immunoglobulins ku-cerebrospinal fluid (CSF) , uketshezi oluzungeze ubuchopho nomgogodla. Besebenzisa lolu lwazi, abacwaningi baphetha ngokuthi kukhona ukuvuvukala ohlelweni lwezinzwa oluphakathi (CNS) , ubuchopho nomgogodla. Lokhu kusho ukuthi isimiso somzimba sokuzivikela sasihlasela ubuchopho ngephutha.

Yiziphi izinkinga ze-ROHHAD syndrome?

Ngaphezu kwezimpawu eziyinhloko esixoxe ngazo ekuqaleni, izingane ezine-ROHHAD syndrome zingaba nezinye izinkinga , okungukuthi, izinkinga ezengeziwe zempilo. Kubalulekile ukuqaphela nalezi:

• Izinkinga zengqondo nezokuziphatha: Lezi zingane zingase zibe nezimo ezinjengokungaphumuli , ulaka, ukusebenza ngokweqile, ukukhathala okuqhubekayo, ukukhathazeka, ukucindezeleka, kanye nokukhubazeka kwengqondo . Lokhu kungathinta impilo yansuku zonke yengane kanye nomndeni.

• Izinkinga zesimiso sezinzwa: Izingane ezine-ROHHAD syndrome zingase zibe nezimo ezifana nokuquleka, ukunyakaza kwamehlo okungavamile (i-nystagmus), i-sleep apnea, noma izinkinga zokukhula .

• Izinkinga ze-Metabolic: Izinkinga ze-metabolic ezivame kakhulu phakathi kwalezi zingane yi -Diabetes Mellitus, ukumelana ne-insulin, ukungabekezelelani kwe-glucose okuphazamisekile, kanye nesifo sesibindi se-Steatotic (amafutha). Lezi yizimo ezingaba nemiphumela yempilo yesikhathi eside.

• Izimila zemizwa: Phakathi kuka-40% no-56% wezingane ezine-ROHHAD syndrome ziba nezimila zemizwa. Isibonelo esisodwa uhlobo lwesimila esibizwa ngokuthi i-ganglioneuroma . Iningi lalezi zimila azinabungozi , kodwa ngezinye izikhathi zingaba yingozi . Ngakho-ke, odokotela bahlala beqaphile ngalokhu.

• Ukuma kwenhliziyo nokuphefumula: Lena inkinga eyingozi kakhulu. Kuwukuyeka ukuphefumula ngokuzumayo kanye nokusebenza kwenhliziyo. Lokhu kungaba yingozi empilweni.

I-ROHHAD syndrome itholakala kanjani? (Ukuxilongwa)

Njengamanje, i-ROHHAD syndrome ibizwa ngokuthiAkukho ukuhlolwa okukodwa okungaqinisekisa ukuxilongwa. Kunalokho, ithimba lochwepheshe bezokwelapha lisebenzisana ukwenza ukuxilongwa ngokusekelwe enhlanganisela eyingqayizivele yezimpawu zengane. Kufana nomseshi, eqoqa ubufakazi futhi efinyelela esiphethweni.

Ukuze kutholakale ukuthi une-ROHHAD syndrome, ingane kumele ihlangabezane nalezi zidingo ezilandelayo:

• Zombili izimpawu zokuqala ngokuzumayo kokukhuluphala ngokweqile kanye nokuphelelwa umoya ngesikhathi sokulala kumele zibe khona.
• Izimpawu zokungasebenzi kahle kwe-hypothalamic (isb., ukukhuluphala okusheshayo, i-hypothyroidism, noma izinguquko ekuthombeni - kusenesikhathi noma sekwephuzile) kumele zibe khona.
• Kubalulekile ukuqinisekisa ukuthi akukho ukuguquka kwezakhi zofuzo (i-gene variant) ku-gene ethi `PHOX2B`. Lokhu kubalulekile ukuyihlukanisa ne -`CCHS (Congenital Central Hypoventilation Syndrome),` esinye isimo esinezimpawu ezifana ne-ROHHAD syndrome (isb., ukuphefumula okunciphile ngenkathi ulele).
• Lezi zimpawu zingase zingabonakali eminyakeni embalwa yokuqala yokuphila. Ngokuvamile ziqala kamuva.

Ngenxa yokuthi i-ROHHAD syndrome iyisimo esingavamile kakhulu, izingane zingase ziqale zihlolwe kabi. Ngakho-ke, uma unalezi zimpawu, kubaluleke kakhulu ukufuna iseluleko esifanele eqenjini lezokwelapha elinolwazi.

Iphathwa kanjani i-ROHHAD syndrome? (Ukwelashwa)

Ukwelashwa kwe-ROHHAD syndrome kuyahlukahluka kuye ngengane, kuye ngezimpawu. Akuwona wonke umntwana onganikezwa uhlelo lokwelashwa olufanayo, ngoba isimo sawo wonke umuntu sihlukile. Kodwa-ke, into eyodwa ifana kubo bonke. Uma ingane ene-ROHHAD syndrome ibonisa ukungahambi kahle kokuphefumula ngenkathi ilele, kuzodingeka isebenzise umshini obizwa ngokuthi i-`CPAP` noma i-`BiPAP` ukuze uyisize iphefumule. Ngokuhamba kwesikhathi, kungadingeka isebenzise i-`ventilator` ukuze isekele ngokugcwele inqubo yokuphefumula. Lena inqubo esindisa impilo.

Uma kwelashwa izingane ezine-ROHHAD syndrome, kudingeka usizo lodokotela bezingane emikhakheni eyahlukene. Isibonelo:

• Odokotela bezifo zamaphaphu
• Odokotela bezinzwa
• Odokotela be-Endocrinologists (odokotela abangochwepheshe be-endocrine glands (ama-hormone))
• Odokotela Bezindlebe (Ochwepheshe Bezindlebe, Impumulo, Nomphimbo)
• Odokotela benhliziyo
• Ochwepheshe bokulala
• Ochwepheshe bezokudla
• Odokotela be-Oncology
• Izazi zengqondo
• Odokotela bezifo zengqondo

Kungobunye babo bonke laba bantu lapho silwela ukunikeza ingane ukwelashwa okungcono kakhulu.

Liyini ikusasa lezingane ezine-ROHHAD syndrome? (I-Outlook)

Eqinisweni, okwamanje alikho ikhambi le-ROHHAD syndrome. Umgomo oyinhloko wokwelashwa ukuphatha izimpawu ezihlukile kumntwana ngamunye nokugcina ikhwalithi yempilo yengane ingcono kakhulu ngangokunokwenzeka.

I-ROHHAD Syndrome kanye Nokulindeleka Kwempilo

Ngenxa yokuthi i-ROHHAD syndrome iyisimo esingavamile, kunzima ukulinganisa ngokunembile isikhathi sokuphila. Akukho datha eyanele ngayo okwamanje.

Kodwa-ke, imbangela enkulu yokufa ngenxa yalesi sifo yinkinga ebizwa ngokuthi ukumiswa kwenhliziyo nokuphefumula, okuwukuphela kokusebenza kwenhliziyo nohlelo lokuphefumula ngokuzumayo .

Ingabe lokhu kungavinjelwa? (Ukuvimbela)

Okwamanje ayikho indlela yokuvimbela i-ROHHAD syndrome - okungenani okwamanje.

I-ROHHAD syndrome iyisimo esingavamile nesisha. Ngakho ucwaningo ngalesi simo lusesezigabeni zalo zokuqala. Uma ucabanga ngempilo yengane yakho, usuku ngalunye oludlula ngaphandle kwezimpendulo lungazizwa luyinto engapheli. Siyaqonda lokho. Ngakho-ke, qiniseka ukuthi ufuna usizo kudokotela wakho. Uzokwazi ukukweluleka ngemithi edingekayo yokuphatha izimpawu zengane yakho, kanye nemithombo yolwazi ngalesi simo.

Izinto ezibaluleke kakhulu okufanele sizithathe ekhaya kule ndaba (Umyalezo Wokuya Ekhaya)

Kulungile, manje usuyaqonda i-ROHHAD Syndrome esikhulume ngayo. Nazi izinto ezibalulekile okufanele uzikhumbule:

• I-ROHHAD syndrome iyisimo esingavamile kakhulu, kodwa esibi kakhulu.
• Izimpawu eziyinhloko ukukhuluphala ngokuzumayo, ubunzima bokuphefumula, kanye nezinkinga ngama-hormone kanye nesistimu yezinzwa ezizimele.
• Akukho mbangela ethile noma ikhambi elihlala njalo lalokhu okwamanje. Ukwelashwa kusekelwe ezimpawini ezivelayo.
• Uma usola ukuthi ingane yakho inalezi zimpawu, ungesabi, kodwa bheka udokotela ofanelekayo ngokushesha ukuze uthole iseluleko.
• Ngenxa yokuthi lesi yisifo esingavamile, kungathatha isikhathi ukuthola ukuxilongwa okunembile. Kodwa ungapheli amandla.
• Kubaluleke kakhulu ukulandela iseluleko sodokotela nokunikeza ingane ukwesekwa okudingekayo.

Khumbula, awuwedwa. Kubalulekile ukufuna usizo kodokotela, emndenini, futhi uma kudingeka, izinsizakalo zokwelulekwa lapho ubhekene nezimo ezinjengalezi.

I- ROHHAD Syndrome, I-ROHHAD Syndrome, Izifo Zabantwana, Ukukhuluphala Okungazelelwe, Ubunzima Bokuphefumula, I-Hypothalamus, Izifo Ezingavamile