A châng chuan nu leh pa kan nih angin nausen piang thar hmai emaw, kut zungtang emaw, a dinhmun a danglam deuh deuh kan hmuh hian kan buai deuh ṭhin a ni lawm ni? Chutih rual chuan doctor-te chuan naute ṭhenkhat chuan "thinlung chhungah khur te tak te" an nei tih an sawi bawk. Vawiin hian heng thil engemaw zat inzawmkhawm, khawvela chhungkaw tlemte chauha report tawh, genetic condition hmuh tur awm lo tak kan sawi dawn a ni. Hei hi medical science-ah chuan Char Syndrome an ti a. Hlau suh, he thil hi awlsam takin i hrethiam vek ang u.
Engvangin nge hetiang hi a lo awm? Hei hi eng nge a chhan?
A awlsam zawngin kan taksa peng tin, taksa peng tin hian kan taksa chhungah hian engtin nge a lo thanglian tur tih thupek a nei vek a. Heng genes te hi kan ti a . Chuvangin, he Cha syndrome hi `TFAP2B` tih gene bik pakhata inthlak danglamna, a nih loh leh mutation avanga lo awm a ni. He gene hian naute chu a pum chhunga a lo seilian huna a hmai, a ke leh a thinlung a lo thanglian zel theih nan a mamawh protein siam turin a hrilh a ni.
Hetiang dinhmun hi a thlen theih dan tlangpui pahnih a awm a:
1. Heredity: Cha syndrome vei nu emaw pa emaw atanga nau piang chuan he natna hi a vei theihna chance 50% a ni. Chumi awmzia chu naupang pawhin chu gene-a chhiatna chu a rochun thei tihna a ni.
2. De novo: A chang chuan chhungkaw zingah tumahin he natna hi an nei lo a nih pawhin, nausen pum chhunga nau pai a nih hian `TFAP2B` gene-ah mutation thar a lo awm thei a ni. Chuti chung pawh chuan naupang chuan Cha syndrome a nei thei a ni.
Hemi chhinchhiahna berte chu engte nge ni?
Cha syndrome hian taksa peng pathum a nghawng ber a, chungte chu hmai, kut leh thinlung te an ni. Hengte hi a hranin han thlir ila.
| Taksa peng a nghawng | Hmuh theih symptoms te |
|---|---|
| Hmai lam thil |
|
| Kut Features te | Mi tam takah chuan a lan chhuah tam ber chu middle finger tawi lutuk emaw awm lo emaw hi a ni . Limb danglamna dang pawh report ni mahse, a tlem hle. |
| Lung lam dinhmun | Naute tam tak chuan thinlung natna an nei a, chu chu Patent Ductus Arteriosus (PDA) tih a ni. A awlsam zawngin, naute chu a pum chhunga a awm hian thinlung atanga thisen phur chhuaktu thisen kalna kawng lian pahnih inkarah inzawmna tlemte a awm a. Hei hi a pian atanga ni engemaw zat chhungin a mah chauhin a khar ang. Mahse hetiang a nih chuan a khur chu a inhawng reng a ni. PDA kan ti a. |
PDA vei naute thenkhat enkawl loh chuan thawk rang, chaw pek harsatna, leh taksa rihna tha lo ang chi harsatna an nei thei a ni. A nasat chuan hei hi heart failure thlengin a kal thei a ni.
Engtin nge he natna hi hriat chhuah a nih?
I doctor-in i naute a enfiah laiin hei hi a rinhlelh chuan geneticist emaw, genetic counselor emaw hnenah a refer thei che a ni.
Chutah chuan genetic test chuan he natna thlentu `TFAP2B` gene-ah hian chhiatna a awm leh awm loh chu chiang takin a finfiah thei a ni. Chumi atan chuan thisen sample, vun emaw sam tissue sample lak a ni tlangpui.
Natna a hriatchhuah hnuah doctor chuan naupang hriselna finfiah lehzual nan test eng emaw zat a rawt thei ang:
- Ha checkup: Kum 3 hnuah ha lo thang chakna lama harsatna a awm leh awm loh enfiah thin ang che.
- Mit enfiahna: Strabismus emaw mit lama harsatna emaw a awm leh awm loh enfiah thin ang che.
- A hriatna test: Hriatna hloh leh hriat loh enfiah.
- Heart checkup: PDA emaw thinlung natna dang emaw enfiah thin ang che.
- Taksa enfiahna: Ke ruh leh ke ruh chungchanga harsatna dang a awm leh awm loh enfiah thin ang che.
- Mut harsatna leh lu pianzia leh lian leh te enfiahna .
I fa hian hetiang dinhmun hi a nei a nih chuan heng test te hi eng chen nge tih tur tih hi i doctor nen inbiakna neih a pawimawh hle.
Eng enkawlna nge awm?
A hmasa berah chuan heng naupangte hian an hmai emaw, an kut zungtang emaw inthlak danglamna avang hian damdawi lam enkawlna bik an mamawh lo. Mahse, naupang chu a lo upa deuh deuh chuan sikulah emaw, khawtlang nunah emaw naupang dangin an nuihzat leh an tihbuai theihna chance a awm. Chuvangin nu leh pa kan nih angin he thil hi kan ngaihven em em a, naupang rilru chakna siam tura tanpui a pawimawh hle.
Mahse, thinlunga PDA awm chuan enkawl a ngai a ni. Chutiang ti tur chuan doctor-te hman dan tlangpui engemaw zat a awm a.
| Enkawl dan tur | A sawifiahna awlsam tak |
|---|---|
| Damdawi chi hrang hrang | NSAID hi naute piang hmaa PDA holes khar nan an hmang thin. Mahse, he hmanraw hi nausen kum tling tawh, naupang kum upa zawk, puitling tan chuan a hlawk lo. |
| Inzai | Doctor chuan thinlung thleng turin ruh inkar ah incision te tak te a siam a, open hole chu stitches emaw clip emaw hmangin a khar thin. |
| Catheter hmanga tih dan tur | Hei hi surgery aiin procedure awlsam zawk a ni. Catheter (tube te tak te, flexible tak) chu groin chhunga thisen kalna kawng kaltlangin thinlungah an kal a, chuta tang chuan plug emaw coil te tak te an dah a, chu chuan a khur chu khar a ni. |
| Fimkhur taka nghah | A châng chuan PDA hole hi a te lutuk a, hriselna lama harsatna dang a thlen loh chuan doctor chuan test hmanga a dinhmun enfiah mai loh chu engmah tih loh a tum mai thei. |
Take-Home Thuchah a ni
- Cha syndrome hi genetic condition hmuh tur awm lo tak a ni. A chanchin hriat hlau suh.
- Hei hian a bik takin hmai, kut (a bik takin kut zungtang te tak te), leh thinlung (PDA condition) hmel danglam a huam a ni.
- I doctor-in rinhlelhna a neih chuan genetic test hmangin hei hi dik takin a hriat theih a ni.
- Hmai leh kut inthlak danglamna hian enkawl a ngai lo mai thei a, mahse thinlunga PDA natna erawh chu a ngai fo thin.
- I fate tan medical test tul zawng zawng a hun taka neih a, doctor thupek zawm a pawimawh hle.
- Nu leh pa kan nih angin kan fate rilru hriselna tha tak pek bakah taksa hriselna tha kan pek hi kan mawhphurhna a ni.
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