Noonan Syndrome hi eng nge ni? Hlau suh, hei hi i fimkhur ang u

I fa te hmelah hian thil mak tak tak i hmu ngai em? A mit chu a inhlat deuh pawh a ni thei, a kawr pawh a tawi deuh pawh a ni thei... Heng thilte nen hian i fate thanlenna pawh a slow deuh niin a lang a nih chuan a chhan chu i hriat ngai loh ‘Noonan Syndrome’ an tih natna a ni thei. Lungngai suh, hei hi mi tam takin an hriat chian a ni lo. Chuvangin vawiin hian awlsam takin sawi ila.

Noonan Syndrome hi eng nge ni tak tak?

A awlsam zawngin sawi ila, Noonan syndrome hi naupang pianpui atanga lo piang chhuak, genetic condition a ni. Hei hian naupang taksa peng hrang hrang hmasawnna a nghawng thei a ni. Naupang thenkhat chuan he natna avang hian symptoms na lo tak tak an nei thin. Chu chu pawn lam atanga hmuh tur an awm lo tihna a ni. Mahse, naupang ṭhenkhat chuan hrisêlna lama harsatna lian zâwk an nei thei a ni .

Hetiang dinhmunah hian naupang hian hmai chi hrang hrang (entir nan, hmai zau tak, mit inkar zau tak), a sei tawi (a sei tawi), mit lama harsatna, leh pianpui thinlung lama harsatna nei te a nei thei a ni.

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

Noonan syndrome hi tu pawh pian tirh atanga lo awm thei a ni. Tu sual vang a ni lo.

• Nu leh pa atanga rochan: Noonan syndrome vei naupang 50% vel chuan nu leh pa hi he natna nei an nei a. Hei hian a awmzia chu nu leh pa zinga pakhatin he natna hi a neih chuan naupang pawhin a rochun theihna chance 50% a nei tihna a ni.
• Random occurrence: A châng chuan, he natna hi naupang gene-a random change (spontaneous mutation) vang pawh a ni thei a, chhungkuaah hian tumahin he natna hi an nei lo.

Hei hi i ngaihtuah angin thil awm lo tak a ni lo. A vaiin naute piang 1,000 atanga 2,500 zinga pakhat chu he natna hian a vei a ni.

Eng thilin nge Noonan syndrome hi a thlen?

Kan taksa tissue te hi a lo thang lian a, a inthen darh turin a hrilhtu gene bik a awm a. Noonan syndrome hi heng genes-a inthlak danglamna (`mutations`) vang a ni fo thin. Hetianga inthlak danglamna avang hian chu genes siam protein te chu an thawk tur aia rei an awm reng a ni. Light off tur huna off ai chuan a eng reng ang mai a ni. Hei hian cell te than dan pangngai leh inthen darhna a tibuai a ni.

Hetiang ang chiah hian dinhmun dang a awm em?

Ni e, Noonan syndrome hi natna chi khat `RASopathies` an tih zinga mi a ni. He pawla natna dangte pawh hian genetic cause inang an nei bawk. Chuvangin an natna lan chhuah dan hi a inang fo thin.

Chutiang dinhmun thenkhat chu hetiang hi a ni:

• ``Cardiofaciocutaneous syndrome tih hi a ni'' tih hi a ni.
• `Costello syndrome` tih a ni
• ``Neurofibromatosis chi 1 (NF1)'' tih hi a ni.
• `Legius syndrome` tih a ni
• `Turner syndrome` tih a ni

Noonan syndrome natna lan chhuah dan chu engte nge ni?

Naupang pakhatah hian natna lan chhuah dan a inang lo thei hle. Naupang thenkhat chuan symptoms na lo tak tak an nei thei a, thenkhat erawh chuan symptom na tak, nunna atana hlauhawm tak tak an nei thei thung. Symptom tam tak hi nausen pum atanga intan emaw, kum 11 an tlin hma emaw a ni.

Mahse thil tha tak chu naupang a lo puitlin chuan a hmel lan dan danglam tak tak tam tak chu a bo zauh zauh thin.

Hriatthiam awlsam zawk nan heng mizia te hi table engemaw zatah then ila.

Thinlung kaihhnawih harsatna

Noonan syndrome vei naupang tam tak chuan pianpui thinlung natna an nei thei a ni. Naupang thenkhat chu enkawl vat a ngai mai thei . Naupang thenkhat chuan nakin lawkah lung natna an nei thei bawk. Lung natna tlanglawn tak takte chu:

• Thinlung atria inkar a khur (atrial septal defect).
• Lung ruh a thim (Hypertrophic cardiomyopathy) a ni.
• Pulmonary artery a awm thin .

Hriselna lama harsatna awm thei dangte

• Thâwk harsa: Entirnan, `laryngomalacia` ang chi dinhmun.
• Kut leh ke a hring: Lymphatic system lama harsatna a awm avangin tui a pung (lymphedema).
• Hmasawnna lama tlai lutuk .
• Thisen chhuah awlsam emaw, hliam emaw .
• Nausen laia nau hnute pek harsatna.
• Mipa naupangte zingah undecended testicles . Enkawl loh chuan hei hian nakin lawkah nau pai theih lohna a thlen thei a ni.
• Scoliosis natna a ni .
• Mit emaw hriatna lama harsatna nei.
• Nau piangsualna, kal (kidney) nena inzawm.

Hei hian eng harsatna dang nge a thlen?

Noonan syndrome nei naupang tam tak chu a tlangpui aia zawi zawiin an lo thang lian a, a bik takin tleirawl lai hian. Tin, naupang 25% vel chuan zirlai harsatna an nei thei bawk. Mahse, mi tlemte chauhvin rilru lama harsatna an nei a ni. Chumi awmzia chu naupang tam zawkin a pangngaiin an zir thei tihna a ni. Naupang 10-15% vel chuan zirna lama tanpuina bik an mamawh mai thei.

Tin, naupang thenkhat chuan naupang leukemia natna hmuh tur awm lo `juvenile myelomonocytic leukemia (JMML)` emaw naupang cancer dang emaw vei theihna chance a sang hle bawk . Mahse lungngai suh, he risk hi a hniam hle a, kum 20 an tlin chuan 4% a ni.

Engtin nge doctor hian hei hi a hriat chian? (Diagnosis) tih a ni.

I doctor chuan i fa taksa a enfiah hnuah leh i natna lan chhuah dan a zawh hnuah Noonan syndrome a ringhlel mai thei. Diagnosis confirm nan leh condition dang tihbo nan i doctor chuan test hrang hrang a ti thei ang.

Heng test-ah hian:

• Thisen chhiar kim (CBC) 1.1.
• Chest X-ray neih a ni
• CT scan a ni
• Thinlung hnathawh dan enfiahna `Echocardiogram' test a ni
• Thinlung electric hnathawh dan enfiahna `Electrocardiogram (EKG)` test a ni.
• Genetic test neih a ni
• Ultrasound hmanga scan (`Ultrasound`) hmanga tih a ni.

Noonan syndrome hi enkawlna a awm em?

Noonan syndrome hi damdawi a la awm lo. Mahse, i fain a natna lan chhuah dan a enkawl theih nan leh nun hrisel tak a neih theih nan enkawlna \ha tak tak tam tak a awm a ni .

I fa enkawltu medical team chuan i fa natna lan chhuah dan leh a nasat dan a zirin enkawlna ruahmanna an siam ang. Plan-ah hian:

• Assistive devices: Mitmeng emaw, hriatna hmanrua emaw ang chi thil.
• Behavioral emaw thusawi emaw hmanga enkawlna .
• Zirna lama tanpuina: Zirna lama harsatna nei te tanpuina bik pek.
• Damdawi: Lung lam harsatna enkawlna tur damdawi, thisen chhuahna control nan emaw, a lo thang chakna tur emaw.
• Growth hormone hmanga enkawlna .
• Adjunctive treatment: Lymphedema (swelling) tan compression therapy ang chi thil te.

Thil engemaw takah chuan i doctor chuan operation neih a rawt thei bawk. Enkawlna tha tak leh enkawl zui zel tur chuan a hmaa hriatchhuah a pawimawh hle.

Nakin hun chu eng ang nge ni ang? Tin, hei hi ven theih a ni em?

Hei hi a pawimawh ber a ni. Noonan syndrome vei tam zawk chu hrisel, mahni inrintawkna neia nun an hmang thin. I fa medical team chuan i fa symptoms te enkawl dan tur leh harsatna awm thei tur venna kawngah an pui ang che.

Hetiang dinhmun hi genetic change avanga lo awm a nih avangin kan venna tur engmah a awm lo. Mahse, i chhungkuaa mi tu emaw Noonan syndrome nei a nih chuan nau neih hmaa genetic testing chungchang hi i doctor nen in sawi dun thei ang.

Naupangin hetiang diagnosis a dawn hian hlauhna a neih hi thil pangngai a ni. Mahse, Noonan syndrome vei naupang tam zawk hi chuan symptoms na lo tak tak an nei tih hre reng ang che. Nun famkim, active takin an nung thei a ni. Chuvangin i fate tana enkawlna tha ber tur chu i doctor nen sawiho rawh. Enkawlna i tan hma chuan i fa chu hriselna lama rah tha ber a neih theih nan a pui thei a ni.