ROHHAD Syndrome hi i hria em? I fa hian heng symptoms te hi a nei em?

I naupang tê chu a lian ṭan tak zet tawh em? A nih loh leh mut laiin thawk harsatna an nei tih i hre tawh em? A châng chuan hengte hi natna hlauhawm tak, ROHHAD Syndrome an tih chhinchhiahna a ni thei bawk. Hemi chungchang hi tlemin chipchiar deuhin han sawi ila, a chhan chu hetiang thil hi hriat chian a pawimawh em em a ni.

ROHHAD Syndrome hi eng nge ni?

A awlsam zawngin sawi ila, ROHHAD Syndrome hi thil awm lo, nunna atana hlauhawm, naupang tê tête vei a ni. Endocrine system, autonomic nervous system leh thawk dan a nghawng ber a ni. Hetiang natna nei naupangte hian hun rei lote chhungin nasa takin an thau thei a ni . An mut lai leh a châng chuan an harh lai pawhin thawk dân, nungchang leh rilru lam inthlâk danglamna an nei thei bawk.

ROHHAD syndrome hi damdawi lam natna thar tak a ni. Kum 1965 khan hmuhchhuah leh sawifiah hmasak ber a ni a, ngaihtuah chian chuan khawvel pumah he natna vei hi mi 200 aia tlem lo an awm tawh a ni. Chuvangin a tlem zia chu i ngaihtuah thei ang. Medical expert-te chuan he natna hi a chhan dik tak zawng chhuakin, a damdawi awm reng tur zawngin an la zirchiang mek a ni. Tunah hian ROHHAD syndrome hi test leh enkawlna bik a la awm lo. Chuvangin Doctor ten naupang tinte chu an natna lan chhuah dan azirin mimal takin an enkawl thin.

ROHHAD syndrome natna lan chhuah dan chu engte nge ni?

ROHHAD syndrome nei naupangte hi an hrisel tlangpui a, an natna lan chhuah hmain an lo thanglian zel a ni. Kum 9 a\ang pawhin natna lan chhuah theih ni mah se, naupang tam zawk chuan kum 2 leh 4 inkar velah an natna lan chhuahna hmasa ber an nei \hin.

‘ROHHAD’ tih hming hi he natna lanchhuahna lian pali zinga hawrawp hmasa ber atanga lak chhuah a ni. Eng nge an nih hi han thlir ila:

• (RO) Rapid-onset Obesity: Hei hi naupang ei duhna nasa taka a san thut a , chu chuan hun rei lote chhung, a tlangpuiin thla thum atanga thla sawm leh pahnih inkar chhungin pound 20-30 (kilogram 9-13) velin nasa takin a tipung a ni. Hei hi thau lutuk chhinchhiahna hmasa ber a ni fo thin. Ngaihtuah teh, taksa rihna tihpun mai a ni lo va, a inthlak danglam chak hle a, hriat theih a ni.

• (H) Hypothalamic Dysregulation: Hypothalamus hi i thluak peng pakhat, pituitary gland control tu a ni. Tin, taksa thanna, taksa rihna, ei duhna, puitlin hun, rilru natna, leh nungchang te pawh a tidanglam bawk. Chuvangin, a hnathawh danah harsatna a awm chuan naupangSymptoms thau lutuk, sei tawi, seizures, than chak lohna, zun tam emaw tihtlem emaw, puitlin hma emaw tlai emaw te a awm thei. Tin, hypothyroidism leh diabetes mellitus ang chi condition te pawh a awm thei bawk.

• (H) Hypoventilation: ROHHAD syndrome nei naupangte chuan an thawk dan an thunun tha thei lo. Chumi awmzia chu thisena oxygen level a tlahniam emaw, carbon dioxide level a san chuan taksain a thawk thuk lo emaw, a thawk rang lo emaw a, a rul thei lo tihna a ni. Hei hi dinhmun hlauhawm tak a ni. A châng chuan, a lo thleng thut thei a, chu chu thawkna lama natna tenau tak, khawsik ang chi emaw, anesthesia hnuah emaw pawh a ni thei.

• (AD) Autonomic Dysregulation: Kan taksa autonomic nervous system (ANS) hian kan control theih loh hnathawh bulpui, thawk, chaw ei, heart rate, leh taksa lum leh lum te a control a. Chuvangin, naupang he autonomic nervous system chhia te hian heart rate pangngai lo taka slow (Bradycardia), taksa lumna hniam, leh natna hriatna tlahniam te ang chi symptoms an nei thei a ni Ngaihtuah teh, hrehawmna tlem zawk tih awmzia chu accident na tak a thlen pawhin naupang chuan a hre lo mai thei tihna a ni.

ROHHAD syndrome hi engte nge ni?

Dik tak chuan doctor-te chuan ROHHAD syndrome awm chhan chiang tak an la hmu lo. Mahse, tunah hian a sawifiah thei tur theory lian pathum zirchian mek a ni.

1. Genetics: Zirchiangtu tam tak chuan ROHHAD syndrome hi genetic mutation avanga lo awm niin an ngai . Mahse, a gene dik tak erawh hriat a la ni lo. Kan taksaa thil awm zawng zawng hi gene-in a thunun a, chuvangin a danglamna eng pawh hian a nghawng thei a ni.

2. Epigenetics: Zirchiangtu thenkhat chuan kan taksaa hnathawh thenkhat control tu gene te hi a tul hunah on theih a ni a, a tul loh hunah pawh off theih a ni tih an ring. Hei hi epigenetics an ti a. He ngaihdan hi identical twins chungchanga zirchianna an neih atanga lak a ni. Chutah chuan naupang pakhat chuan ROHHAD syndrome a nei a, pakhat zawk erawh chuan a vei lo. Chuvangin, genes chauh ni lovin, chu genes hnathawh dan inang lo pawhin hei hi a nghawng thei tih ngaihtuah theih a ni.

3. Autoimmunity: Zirchianna thenkhatah chuan ROHHAD syndrome hi autoimmune natna a ni bawk.Autoimmune diseases te hi inzawmna a awm tawh a, chutah chuan taksa ngeiin a taksain a cell a bei thin a ni. Zirchianna pakhatah chuan ROHHAD syndrome vei naupang pahnih chuan thluak leh ruhro hual veltu tui cerebrospinal fluid (CSF) -ah immunoglobulins an tih antibodies an nei tih hmuhchhuah a ni. He information hmang hian zirchiangtute chuan central nervous system (CNS) , thluak leh ruhroah inflammation a awm tih an sawi chhuak ta a ni. Chumi awmzia chu taksa ngeia immune system chuan thluak chu a rawn bei sual tihna a ni.

ROHHAD syndrome hian eng harsatna nge a thlen?

A hmaa kan sawi tawh symptom lian ber berte bakah hian ROHHAD syndrome nei naupangte hian complication dang , chu chu hriselna lama harsatna dang an nei thei a ni. Hengte pawh hi hriat a pawimawh:

• Rilru leh nungchang lama harsatna: Hêng naupangte hian rilru hahdam lohna, tharum thawhna, thiltih nasa lutuk, hah reng, lungkhamna, lungngaihna, leh rilru lama harsatna te ang chi dinhmun an nei thei a ni Chungte chuan naupang nitin nun bakah chhungkua pawh a nghawng thei a ni.

• Nervous system lama harsatna: ROHHAD syndrome nei naupangte chuan rilru hahna, mit chet dan pangngai lo (nystagmus), mut theih lohna, emaw, hmasawnna lama harsatna te ang chi natna an nei thei a ni

• Metabolic disorders: Heng naupangte zingah hian metabolic disorder awm tam ber chu Diabetes Mellitus, Insulin resistance, Impaired glucose intolerance, leh Steatotic (fatty) liver disease te an ni. Hengte hi hun rei tak chhunga hriselna lama nghawng nei thei dinhmunte an ni.

• Neural tumors: ROHHAD syndrome nei naupang 40% leh 56% inkar chuan nerve-ah tumor an nei thin. Entirna pakhat chu tumor chi khat ganglioneuroma an tih hi a ni . Heng tumor tam zawk hi chu benign an ni a , mahse a chang chuan malignant an ni thei bawk . Chuvangin doctor ten he thil hi an lo thlir reng a ni.

• Cardiorespiratory arrest: Hei hi harsatna hlauhawm ber a ni. Thâwk leh thinlung hnathawh tihtawp nghal mai a ni. Hei hian nunna a tichhe thei a ni.

Engtin nge ROHHAD syndrome hi hriat theih? (Diagnosis) tih a ni.

Tunah hian ROHHAD syndrome an ti aTest pakhat mah hian diagnosis hi chiang taka nemnghet thei tur a awm lo. Chu ai chuan, damdawi lam mithiamte team chuan naupang natna lan chhuah dân danglam tak inzawmkhawm a\angin natna hriat theih nân an thawk ho a ni . Detective ang mai a ni a, evidence a khawlkhawm a, thutlukna siam a ni.

Naupangin ROHHAD syndrome a vei tih hriat theih nan a hnuaia tehfungte hi a tlin a ngai a ni.

• Mut laiin thau lutuk lo tan nghal leh hypoventilation symptom pahnih hi a awm vek tur a ni.
• Hypothalamic dysfunction symptoms (e.g., taksa rihna sang chak tak, hypothyroidism, emaw puitlin hun inthlak danglam - a hma emaw, a hnu emaw) a awm ngei tur a ni.
• Gene `PHOX2B` ah hian mutation (gene variant) a awm lo tih finfiah a pawimawh hle. Hei hi `CCHS (Congenital Central Hypoventilation Syndrome),` natna dang, ROHHAD syndrome ang chi symptom thenkhat nei (e.g., mut laiin thawk a tlahniam) nen thliar hrang turin a pawimawh hle.
• Heng symptoms te hi kum hmasa lamah chuan a lang lo mai thei. A hnuah an tan tlangpui.

ROHHAD syndrome hi thil awm lo tak a nih avangin naupangte hi a tir lamah chuan hriat sual an ni fo thin. Chuvangin heng symptoms te hi i neih chuan medical team tawnhriat ngah tak hnen atanga thurawn mumal tak lak a pawimawh hle.

ROHHAD syndrome hi engtin nge enkawl a nih? (Tihdamna)

ROHHAD syndrome enkawl dan hi naupang hrang hrangah a inang lo a, a natna lan chhuah dan azirin a inang lo. Naupang zawng zawng hi enkawl dan inang pek vek theih an ni lo, a chhan chu mi zawng zawng dinhmun a inang lo. Mahse, thil pakhat chu mi zawng zawngin a inang vek a ni. ROHHAD syndrome vei naupangin muthilh laiin thawk dan dik lo a lantir a nih chuan, an thawk thei tur chuan `CPAP` emaw `BiPAP` emaw an tih machine an hmang a ngai dawn a ni. Hun a kal zel a, thawk dan tur a puih theih nan `ventilator` an hman a ngai mai thei. Hei hi nunna chhanhimna kalphung a ni.

ROHHAD syndrome nei naupang enkawl dawnin kawng hrang hranga naupang enkawltu te tanpuina a ngai a ni. Entir nan:

• Pulmonologist te an ni
• Neurologist te an ni
• Endocrinologist (doctor-te chuan endocrine glands (hormones) lama tui tak takte) .
• Otolaryngologists (Beng, Hnar, Hnar lam thiam) te chuan .
• Cardiologist te an ni
• Mut lam thiamte
• Ei leh in lama mithiamte
• Oncologist te an ni
• Psychologist te pawh an awm
• Psychiatrist te an ni

Heng mi zawng zawngte inpumkhatna hmang hian naupang enkawlna tha ber pek kan tum a ni.

ROHHAD syndrome vei naupangte hmalam hun chu eng nge ni? (Hmuh dan tur) .

Dik tak chuan tunah hian ROHHAD syndrome hi damdawi a la awm lo. Enkawlna tum ber chu naupang tinte tana danglam bik symptoms te enkawl a , naupang nunphung a tha thei ang bera vawn that hi a ni.

ROHHAD Syndrome leh dam rei zawng

ROHHAD syndrome hi chutiang natna hlauhawm tak a nih avangin dam rei zawng dik taka chhut a harsa hle. A chungchangah hian data a la tling tawk lo.

Mahse, he natna avanga thihna thlentu ber chu cardiorespiratory arrest an tih complication a ni a, chu chu thinlung leh thawkna system hnathawh tihtawp nghal mai hi a ni

Hei hi ven theih a ni em? (Invenna) 1.1.

Tunah hian ROHHAD syndrome hi ven theih dan tur a awm lo - a tlem berah chuan a la ni lo.

ROHHAD syndrome hi a awm lo va, a thar deuh bawk. Chuvangin he dinhmun chungchanga zirchianna hi a tir lamah a la awm a ni. I fa hriselna i ngaihtuah hian chhanna awm lovin ni tin kal zel chu chatuan ang maiin a lang thei. Chu chu kan hrethiam. Chuvangin, i doctor hnen atangin tanpuina zawng ngei ang che. I fate natna lan chhuah dan enkawlna atana enkawlna mamawh te, chubakah he natna chungchanga hriat tur source te pawh a hrilh thei ang che.

He thawnthu atang hian kan in lama kan hruai tur pawimawh ber berte (Take-Home Message) .

Okay, chuti a nih chuan tunah chuan kan sawi tawh ROHHAD Syndrome chungchang hi hriatthiamna engemaw chen i nei ta. Hriat reng tur pawimawh thenkhat chu hetiang hi a ni:

• ROHHAD syndrome hi a awm lo hle a, mahse a na hle.
• A lan chhuah dan ber chu taksa rihna sang nghal, thawk harsatna, hormone leh autonomic nervous system lama harsatna te a ni.
• Hei hi a chhan chiang tak leh damdawi awm reng tur a la awm lo. Enkawlna chu a lan chhuah dan azirin a ni.
• I fain heng symptoms te hi a nei nia i rinhlelh chuan hlau suh, doctor thiam tak hnenah thurawn dil nghal rawh.
• Hei hi natna hmuh tur awm lo tak a nih avangin, a dik taka hriat theih nan hun engemaw chen a ngai mai thei. Mahse, beidawng suh.
• Doctor-te thurawn zawm a, naupang chu a tul anga puihna pek a pawimawh hle.

Nangmah chauh i ni lo tih hre reng ang che. Hetiang dinhmun kan hmachhawn hian doctor, chhungte, leh a tul chuan counseling service te hnen atanga tanpuina dil a pawimawh hle.

` ROHHAD Syndrome, ROHHAD Syndrome, Naupang Natna, Thau lutuk, Thâwk harsa, Hypothalamus, Rare Diseases