I fain Wolf-Hirschhorn syndrome tih hming pu natna hlauhawm tak a nei tih i hriat chuan i lungngaihzia, i mangang a, i tanpui theih lohzia chu ka hrethiam. I rilruah zawhna tam tak i nei thut mai thei, ‘Engvangin nge ka fa chungah hetiang thil hi a lo thlen?’, ‘Engtin nge hetiang hi a lo awm?’, ‘Tunah engtin nge ka tih ang?’ tih te hi a ni. Hetih lai hian nangmah chauh i ni tih ngaihtuah suh. Engkim hi chiang tak leh awlsam takin sawi ila.
Wolf-Hirschhorn Syndrome hi eng nge ni tak tak?
A awlsam zawngin sawi ila, Wolf-Hirschhorn syndrome hi naupang pianpui atanga lo piang chhuak, genetic condition awm lo tak a ni. `(4p- syndrome)` an ti bawk. Kan taksa cell te hian chromosome an tih thil an nei a . Chûngte chu kan taksa siam dân tûr blueprint kimchang tak awmna lehkhabu angin ngaihtuah rawh. Heng chromosome zingah hian 46 a awm a, pair 23-ah a awm.
Wolf-Hirschhorn syndrome-ah chuan chromosome 4-a thil tlemte tak tak a awm lo. Planner chhunga phek tlemte chu a sir atanga phelh chhuah ang mai a ni. Chromosome tlemte pawh hian naupang hmasawnna pangngai a tibuai thei a ni. Naupang hrang hrangah hian natna lan chhuah dan leh a nasat dan a inang lo a, chu chu a bo zat a zirin a ni.
Hetiang dinhmun a lo awm chhan hi eng nge ni? Hei hi nu leh pa sualna a ni em?
Hei hi nu leh pa tam takin an zawh thin a ni. Hetah hian chiang taka i hriatthiam tur pawimawh ber chu a tam zawkah chuan hei hi nu leh pa atanga lo chhuak a ni lo va, nu leh pate sualna pawh a ni lo.
He chromosome break hi naute pum chhunga naupai hnua cell inthen darh laiin random event angin a thleng tlangpui. Doctor-te chuan he genetic change rang tak hi engvangin nge a lo awm tih chiang takin an la hre lo.
Mahse, a tlem berah chuan he natna hi nu leh pa zinga pakhat hnen atanga rochun theih a ni. Hei hi `balanced translocation` an ti a. Chumi awmzia chu nu emaw pa emawa chromosome pahnih emaw a aia tam emaw chu an lo pian chhuah laiin an inthen a, hmun an inthlak tihna a ni. Mahse a balanced em avangin nu emaw pa emaw hian symptoms a lantir lo. Amaherawhchu, chutiang mi chuan fa a neih chuan chromosome inthlau lo chu naupang hnenah a thlen theihna chance a sang hle. I duh chuan nangmah emaw i kawppui emaw hian `balanced translocation` condition i nei em tih hriat nan genetic test i nei thei ang. Hemi chungchang hi i doctor nen inbia ang che.
Naupangah hian eng symptoms nge hmuh theih?
Wolf-Hirschhorn syndrome hian taksa peng hrang hrang tam tak a nghawng thei a. Hei vang hian symptom tam tak a awm a ni. Naupang zawng zawng hian heng symptoms zawng zawng hi an nei vek dawn lo. A lan chhuah dan ber chu hmel lan dan danglam tak, hmasawnna tlai, rilru lama harsatna, leh seizures te hi a ni.
Heng symptoms te hi table pakhatah chiang takin han en ila.
| A nghawng sector | Thil langsar tak tak hmuh tur awm |
|---|---|
| Hmai lam hawi |
|
| Hmasawn leh taksa | |
| Nervous system leh finna (intelligence) te | |
| Chhungril taksa peng hrang hrang |
Engtin nge he natna hi kan hriat theih ang?
A châng chuan, i doctor chuan naupai laiin i ultrasound scan pangngaia i naute taksa lan dân ṭhenkhat a hmuh avângin he natna hi a ringhlel thei a ni. Tin, tuna thisen test bik (cell-free DNA screening) thenkhat awm tawhte hian chromosomal problems chungchangah clues a pe thei bawk.
Mahse, hengte hi screening chauh a ni tih hre reng ang che. Naupangin clue avang chauha he natna hi a nei tih hi 100% in a chiang lo.
Diagnosis dik tak finfiah nan hian genetic test bik neih a ngai a ni. Chung zingah chuan a pawimawh ber chu `fluorescence in situ hybridization (FISH)` test hi a ni. Hei hian chromosome palina hmun khat hloh chu 95% aia tam dik takin a hmu thei a ni. He test hi naute pian hma emaw, a pian hnuah emaw tih theih a ni.
I fain Wolf-Hirschhorn syndrome a vei tih finfiah a nih chuan, i doctor chuan taksa hmun dang eng nge a nghawng tih chiang taka hriat theih nan test dang, scan ang chi tih a rawt mai thei.
Engtin nge enkawl a nih?
He thu hi i hriat hian i lungngai mai thei a, mahse thudik tak chu Wolf-Hirschhorn natna tidam thei tur damdawi hmuh tur a la awm lo.
Mahse, chu chuan kan tih theih a awm lo tihna erawh a ni lo. Enkawlna tum ber chu naupang natna lan chhuah dan thunun a, nun tha ber nei tura tanpui hi a ni.
Naupang tin hi an danglam vek avangin, enkawl dan tur chu naupang pakhatah a inang lo ang. A tlangpuiin, he enkawlna ruahmanna hian a hnuaia mite hi a huam ang:
| Enkawl dan tur | Chhan |
|---|---|
| Physical Therapy leh Occupational Therapy te a ni | Muscle tichak tur, mobility tihpun nan leh nitin hna hrang hrang mahni inrintawkna nei thei tura zirtir turin. |
| Ruihhlo hmanga enkawlna | Damdawi pek, a bik takin seizures control nan. |
| Inzai | Nau piangsualna, thinlung emaw thluak lama harsatna nei te chu surgery hmanga siamthat. |
| Zirna bik | Naupang zirlai thiamna nena inmil zirna pek. |
| Genetic Counselling neih a ni | Chhungkaw member-te chu an dinhmun hriatthiamna pe tur leh nakin lawka fa enkawlna kawnga hlauhawm awm thei chungchang sawiho. |
He naupang enkawl hi team effort lian tak a ni. Mi tam tak tanpuina a ngai a, chung zingah chuan naupang enkawltu te, taksa lam enkawltu te, leh thusawi lam enkawltu te pawh an tel a ni.
Take-Home Thuchah a ni
- Wolf-Hirschhorn syndrome hi genetic condition hmuh tur awm lo tak a ni. Nu leh pa sualna awm lovin a lo awm fo thin.
- Naupang tinte symptom leh nasat dan a inang lo.
- He natna hi tihdam kim theih ni lo mah se, a natna lan chhuah dan enkawl dan tur leh naupang nun tha zawk pek theihna tur enkawlna tam tak a awm a ni.
- Chumi atan chuan doctor leh therapist team te puihna a pawimawh hle.
- Hetiang naupang enkawl hi thil harsa tak a ni. Nu leh pa i nih angin nangmah ngeiin i rilru hriselna i enkawl a, i mamawh puihna i hmuh a pawimawh hle.
- I fa dinhmun chungchanga zawhna emaw, ngaihtuahna emaw i neih chuan i doctor nen zalen takin sawipui rawh.
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