I fa hian heng symptoms te hi a nei em? Noonan Syndrome chungchang hi han sawi ila

Nu emaw, pa emaw i nih angin i fa hriselna leh hmasawnna tur i ngaihtuah reng a ni mai thei. A chang chuan i fa pianphungah inthlak danglamna tenau emaw, hmasawnna lama harsatna emaw i hmuh hian hlauhna tlem i neih hi thil pangngai a ni. Vawiin hian chutiang nu leh pate hriat tur genetic condition pawimawh tak kan sawi dawn a ni. Chu chu Noonan Syndrome an tih natna a ni.

Noonan Syndrome hi eng nge ni?

A awlsam zawngin, Noonan Syndrome hi genetic condition a ni . Kan taksaa genes inthlak danglam vang a ni. Hetiang dinhmun hian i fa chu kawng hrang hrangin a nghawng thei a ni. Naupang thenkhat chu he natna neia piang an ni a, mahse a natna lan chhuah dan erawh a na lo hle thei . Chumi awmzia chu harsatna lian tham nei lovin nun pangngai an hmang thei tihna a ni. Mahse, naupang ṭhenkhat chuan harsatna tlem an nei tam zawk mai thei .

Hetiang dinhmunah hian naupang hmel hian thil danglam bik engemaw zat a nei thei a ni . Entirnan, hmai sang, mit zau, beng hnuai lam set, leh kawr tawi. Tin, Noonan Syndrome vei naupang tam tak chu an kum azirin an tawi a, chu chu an tawi hmel hle tihna a ni . Mit lama harsatna, taksa ruh (muscle tone) hniam, pianpui thinlung natna te pawh a awm fo.

Mahse hei hi a ni, Noonan Syndrome damdawi a awm lo . Mahse, lungngai suh! I fa chu a hrisel thei ang bera awmtir turin i doctor chuan i mamawh kaihhruaina a pe thei che a ni. Tin, i natna avanga harsatna lo awm thei tur ven emaw, hriatchhuah emaw turin an thawk dun thei bawk. Tichuan i fa chu nun famkim, active takin a nung thei ang .

He natna hi tuin nge vei? Engtiang chiahin nge a hluar?

Noonan Syndrome hi tu pawh pian tirh atanga lo awm thei a ni . Tuin nge hmasawn ang a, tuin nge ti hmasawn lo ang tih kan sawi lawk thei lo. Mahse, statistically chuan Noonan Syndrome vei zinga 50% vel chuan an nu leh pa pakhat hnen atangin he natna hi an rochun thin. A tam zawkah chuan Noonan Syndrome vei chuan an fa hnenah a kai theihna chance 50% a nei a ni.

Noonan Syndrome hi genetic disorder a ni a . Chu chu, genetic disorder hmuh tur awm lo thenkhat aiin a tam deuh tihna a ni. A tlangpuiin mi 1,000 leh 2,500 zinga pakhatin he natna hi an vei thei niin an sawi.

Eng thilin nge Noonan Syndrome hi a thlen?

Hetiang dinhmun hi a tam zawk chu kan taksa tissue te thanlen leh thanlenna tura puitu enzyme kan neih loh vang a ni.Gene thenkhat (mutations) inthlak danglamna avanga lo awm a ni. A bik takin, heng gene danglam tak takte siam chhuah protein te hi an active tur aia rei an awm reng a ni. Hei hian cell te chu tha taka thang leh inthen darh turin a veng a ni.

Noonan Syndrome hi kawng hnih a awm a, chungte chu:

• Rochun: Naupang chuan he dinhmun hi a nu leh pa zinga pakhat hnen atangin a rochun thin.
• Spontaneous mutation: Genetic change thar avanga lo awm, chhungkaw zingah tumahin he natna hi an lo nei tawh lo.

Tuna genetic testing hian Noonan Syndrome vei zinga 80% velin genetic abnormality hi a hmuchhuak thei a ni. Mahse, zirchiangtute chuan population la awm zingah he natna hi a chhan dik tak an la hre lo.

Noonan Syndrome ang chi natna dang a awm em?

Ni e, Noonan Syndrome hi natna inzawmkhawm pawl pakhat, RASopathies tia koh zinga mi a ni. Heng natna zawng zawng hi cell te lo thanglian leh lo thanglian dan ang chiah hian thil dik lo avanga lo awm a ni. Chuvangin an natna lan chhuah dan pawh a inang hle.

`RASopathies` category-a tel natna dang thenkhat chu:

• Cardiofaciocutaneous syndrome a ni a, a rilru a hah hle
• Costello natna (Costello) natna a ni
• Neurofibromatosis chi khat (NF1) a awm thin.
• Legius natna (Legius) natna a ni
• Noonan syndrome hi lentigines tam tak nei (hmanlai chuan LEOPARD syndrome tia hriat thin) a ni.
• Turner syndrome a ni

Noonan Syndrome natna lan chhuah dan chu engte nge ni?

Noonan Syndrome symptoms hi mi hrang hrangah a inang lo thei. Mi thenkhat chuan symptoms na lo tak tak an nei a, thenkhat erawh chuan symptom na tak, nunna atana hlauhawm tak tak an nei thung. Naupang taksa peng eng nge a nghawng tih a innghat a ni. Symptom tam zawk hi nausen chu nausen pum chhunga a lo thanglian lai atanga tan a ni a, a nih loh leh naupang kum 11 a tlin hmain a lang chhuak thin .

Hmai hmel hmuh theih

Naupang Noonan Syndrome vei te hmel lan dan chu naupang puitlin a nih chuan a bo zauh zauh thei a ni . Chu chu a tir aiin an langsar lo zawk mai thei tihna a ni. Heng features te hi a hnuaia mi te hi a ni thei:

• Hmai sang tak nei .
• A hmui chunglam lai takah groove thuk tak nei.
• Mitmeng tla (ptosis) a awm.
• Hnar flat leh bulbous tip nei.
• Earlobes te hi a tlangpui aia hniam zawka dah a ni.
• Mit sen hring emaw, sen hring emaw.
• Strabismus hi mit inkar hlat zawng a san a, mit chu hnuai lam hawia a inher a, a chang chuan pakhat leh pakhat lam hawi a ni.

Taksa mizia dangte

Hmêl lan dan bakah hian taksa lam thil dang tam tak a awm a, chungte chu:

• Kut zungtang emaw kephah emaw a hring chhuak.
• Nail pianzia leh rawng danglam tak nei.
• Kawng tawi leh kawr hnung lamah sam hniam tak, kawr sir lamah webbing awm pawh a ni thei.
• Shortness of stature (kum a zirin a san zawng tawi).
• A rilru a pil (pectus excavatum) emaw, rilru ruh chhuak (pectus carinatum) emaw a ni thei.

Lung natna

Noonan Syndrome vei naupang tam tak chuan pianpui thinlung natna an nei thei . Naupang thenkhat chuan he lung natna hi enkawl vat a ngai mai thei. Mi dangte chuan naupan lai thlengin symptoms an nei lo thei bawk. Lung natna langsar zualte chu:

• Atrial septal defect a ni.
• Hypertrophic cardiomyopathy a awm a, a rilru a hah hle.
• Pulmonary artery a stenosis a awm thin.

Harsatna dang awm thei

Hei bakah hian Noonan Syndrome hian harsatna dang engemaw zat a thlen thei bawk:

• Thâwk harsa, entirnan, larynx a nem (laryngomalacia) vang a ni.
• Lymphedema (kut emaw ke emaw a lymph fluid awm khawm).
• Hmasawnna lama tlai lutuk .
• A tlangpui aia thisen chhuak emaw, hliam awlsam emaw.
• Nausen laia chaw pek harsatna .
• Mipa naupangte zingah undecended testicles a awm. Enkawl loh chuan hei hian fertility issue a nghawng thei a ni.
• Scoliosis natna (Scoliosis) a ni.
• Mit lama harsatna emaw, hriatna lama harsatna (hearing impairment) emaw a awm.
• Kidney nena inzawm nau piangsualna.

Noonan Syndrome nen hian eng harsatna dang nge awm?

Noonan Syndrome vei naupang tam tak chu tleirawl an nih veleh a tlangpui aia zawiin an lo thang chak zawk thin . Mahse, sei zawng pangngaia piang an ni thei. 25% vel chu zirlai lama harsatna nei an ni. An zinga tlemte pawh hian rilru lama harsatna an nei thei bawk. Noonan Syndrome vei naupang 10% leh 15% inkar chuan zirna bik an mamawh thei a ni. He natna hian hmasawnna a tikhawtlai thei a, nungchang lama harsatna a thlen thei bawk a, tawngkam lama harsatna a thlen thei bawk.

Noonan Syndrome vei naupang thenkhat chuan juvenile myelomonocytic leukemia (JMML) , leukemia chi khat, naupan lai atanga lo awm thin, an vei thin.Hnute cancer emaw, naupang cancer dang emaw vei theihna chance chu tlem a sang thei hle. Mahse, kum 20 an tlin chuan a risk zawng zawng chu 4% vel niin an ngai a, chuvangin, hre reng ang che, risk hniam tak a ni .

Engtin nge Noonan Syndrome hi hriat theih?

I doctor chuan i fate taksa enfiahna leh a natna lan chhuah dan enfiah hnuah Noonan Syndrome a ringhlel thei a ni. Diagnosis tih finfiah tur leh natna dang awm lo turin i doctor chuan genetic test neih a rawt thei ang .

Hei atan hian test dang engemaw zat tih theih a ni:

• Thisen chhiar (CBC) test kimchang.
• A rilru X-ray a ni.
• CT scan a ni.
• Echocardiogram hi thinlung hnathawh dan enfiahna test a ni.
• EKG test (Electrocardiogram (EKG)) hmanga enfiah a ni.
• Ultrasound hmanga enfiah a ni.

Noonan Syndrome hi damdawi a awm em?

Ni lo, Noonan Syndrome hi damdawi a awm lo . Mahse, lungngai suh! Nang leh i fate natna lan chhuah dan tur enkawl thei tur enkawlna tha tak tak a awm.

Noonan Syndrome hi engtin nge enkawl a nih?

I fa damdawi lam team chuan i fa natna lan chhuah dan leh a nasat dan a zirin Noonan Syndrome enkawl dan tur ruahmanna an siam ang. I fa hian enkawlna a dawng thei a, chungte chu:

• Assistive devices: glasses emaw, hriatna hmanrua emaw ang chi.
• Behavioral emaw thusawi emaw hmanga enkawlna .
• Zirna lama harsatna nei te tan zirna lama puihna.
• Naupang thinlung natna , thisen chhuah harsatna, emaw, a lo seilian zawi zawi emaw damdawi .
• Growth hormone hmanga enkawl a ni.
• Compression therapy ang chi supportive treatment te, lymphedema ang chi natna te tan hahdamna pe thei.

A châng chuan i doctor chuan operation neih a rawt thei a ni . Enkawlna \ha leh enkawlna \ha tak neih nan a hmaa hriat chhuah a pawimawh hle tih hre reng ang che.

Ka fa Noonan Syndrome enkawltu team-ah hian tute nge tel theih ang?

I naupang enkawltu bakah hian i fa hriselna enkawltu medical team-ah hian specialist te pawh an tel thei a, chungte chu:

• Vascular medicine lama mithiam tak a ni.
• Doctor, nervous system (thluak, ruhro, leh nerve) lama tui tak (Neurologist).
• Oncologist a ni.
• Mit lam doctor.
• Geneticist lam thiam a ni.
• Cardiologist a ni.
• Endocrinologist a ni.
• Nephrologist a ni.
• Dermatologist (vun, sam, leh nail lama mithiam).

I care team chuan i fa tan enkawlna tha ber tur an rawt ang. I fa dinhmun pawh an enfiah ang a, damdawi emaw, enkawlna emaw-ah pawh a tul angin siamthatna an siam ang a, chu chu naupang dinhmun leh a nghawng tha lo eng pawh a zirin a ni.

Ka fain Noonan Syndrome a vei theihna tur tihtlem nan ka tih theih tur a awm em?

Ni lo, i fain Noonan Syndrome a vei theihna tur tihziaawmna tur engmah a awm lo. Genetic mutation avanga lo awm a ni . Mahse, i chhungkuaa mi pakhatin Noonan Syndrome a neih chuan i doctor nen naupai hmaa genetic testing chungchang i sawi thei a, chu chu naupai laiin tih theih a ni .

Noonan Syndrome vei te hmalam hun eng nge ni?

Noonan Syndrome vei tam zawk chu hrisel, mahni inrintawkna neiin an nung a ni.

I fa enkawltu team chuan i fate symptoms enkawl dan tur leh harsatna awm lo tur venna atan an thawk ho ang che. Chuvangin, beiseina nei reng a pawimawh.

Noonan Syndrome vang hian engtikah nge doctor thurawn i lak ang?

Noonan Syndrome causes severe congenital heart disease , i naute hrisel leh him taka awm theih nan operation leh ongoing monitoring neih a ngai mai thei. I doctor chuan a rang thei ang bera enkawl dan tur leh hun rei tak chhunga enkawl dan tur a sawipui thei che a ni.

Nausen piang thar emaw, naupang lo puitling emawin medical diagnosis a dawn hian hlauhna a awm hi thil pangngai a ni. Mahse, naupang tam tak Noonan Syndrome vei nia hriatte chuan symptoms na lo tak an nei . Tin, nun famkim, active takin an nung zel bawk. I fa mamawh ang zela enkawlna \ha tak tak emaw, enkawlna kalpui mek emaw chungchang chu i doctor nen sawiho rawh. Enkawl hmasak hian i lungkhamna a tihziaawm thei a, i fa chu hriselna lama rah tha ber a neih theih nan a pui thei bawk.

Thil pawimawh ber ber (Take-Home Message) i hre reng ang u.

Okay, chuvangin kan sawi tawh atang hian point pawimawh ber berte hi han recap leh ila:

• Noonan Syndrome hi genetic condition a ni a .
• The symptoms of this vary , thenkhat chu a na lo a, thenkhat chu a na deuh deuh bawk.
• Facial feature bik, short stature, leh heart disease ang chi thil te i hmu thei.
• Damdawi famkim awm lo mah se, natna lan chhuah dan enkawl thei damdawi \ha tak tak a awm .
• Natna hi hriatchhuah hmasak a pawimawh hle a .
• Specialist doctor team chuan i fa chu an pui ang.
• Noonan Syndrome vei naupang tam tak chu hlim tak, active takin an hmang thin .

Chuvangin, i fain heng symptoms te hi a neih chuan hlau suh, a rang thei ang bera doctor pan la, thurawn la rawh. I mamawh tanpuina zawng zawng an pe ang che.

` Noonan syndrome, genetic diseases, congenital heart disease, hmasawnna tlai, hmel lan dan, naupang hriselna, genetic testing