I fate hian he natna hmuh tur awm lo tak hi a nei em? Kabuki Syndrome chungchang hi han sawi ila

Kabuki Syndrome hi i hre tawh em? A ni lo mai thei. A chhan chu genetic condition hmuh tur awm lo tak a nih vang a ni. Mahse, fimkhur a pawimawh a, a bik takin nu leh pa i nih chuan. A awlsam zawngin sawi ila, he natna hian i fa taksa peng hrang hrang tam tak a nghawng thei a ni. Vawi tam tak chu heng naupangte hian hmêl danglam tak an nei a, an ruhroah hian danglamna tlemte a awm a, rilru lama hmasawnna engemaw zat a tlai a, an pian hnua hmasawnna lama harsatna an nei bawk. Mahse naupang zawng zawng hian heng symptoms hi an nei vek lo va, an natna nasat dan hi mi hrang hrangah a inang lo thei. Hemi chungchang hi chipchiar deuhin sawi ila, kan sawi dawn em ni?

Engtin nge "Kabuki" tih hming hi a lo awm?

Hei pawh hi thawnthu ngaihnawm tak a ni. Kum 1981 khan Japanese scientist pahnih chuan he natna hi Kabuki Syndrome an tih hi an hmuchhuak hmasa ber a. Pakhat chuan "Kabuki Makeup Syndrome" tiin a vuah a ni. A chhan chu hetiang natna vei naupang tam tak hmel lan dan hi Japanese theatre art hlui "Kabuki" play-a lemchan thiamte makeup nen a inang a ni. Ngaihtuah teh, lemchan thiamte hian an mitmeng an vuah dan leh an mit pianzia hi heng naupangte hmel lan dan nen hian a inang vek a ni. Mahse a hnuah scientist-te chuan "makeup" tih thumal hi an paih chhuak a, "Kabuki Syndrome" tih hming an hmang tan ta a ni. A chang chuan he natna hi `Kabuki natna`, `KMS` emaw `Niikawa-Kuroki syndrome` tih te pawh i hre thei bawk.

Kabuki syndrome natna lan chhuah dan chu engte nge ni?

Kabuki syndrome hi pianpui natna ni mahse, i naute hian a pian tirh atangin natna lan chhuahna a nei lo mai thei. A chang chuan symptoms a lan theih nan kum engemawzat a ngai thei bawk. Tin, i fain a natna lan chhuah dan leh a nasat dan chu mi hrang hrangah a inang lo thei tih hriat reng a pawimawh bawk.

Kabuki syndrome hian naupang taksa peng hrang hrang leh system hrang hrang a nghawng thei a ni. A lan chhuah dan tlangpui hi han thlir ila:

Hmai lam chi hrang hrang

Hei hi mi tam takin an hmuh hmasak ber a ni.

• Mitmeng chu chunglam hawiin a inher a, a inthen zau hle. Mit hmul tip lamah sam a tla thei.
• Mitmeng inkar kawngkhar (palpebral fissures) chu a sei lo hle.
• Hnar tip chu a flat ta vek mai.
• Earlobes hi a lian thei a, cup ang mai a ni thei bawk.

Skeletal system-a inthlak danglamna

Taksa ruhah pawh inthlak danglamna thenkhat hmuh tur a awm bawk.

• Spinal abnormalities (scoliosis ang chi) a awm.
• Pinky finger chu a ben thei bawk. Hei hi damdawi lam tawng chuan clinodactyly an ti a.
• Kut zungtang leh ke ruhte chu a tawi thei (brachydactyly).

Nervous system nena inzawm mizia

Thluak leh nervous system nena inzawm thil thenkhat pawh i hmu thei bawk.

• Thil hriatna lama harsatna nei tlem emaw, a hniam emaw.
• Epileptic natna (epileptic seizures) a awm thin.
• Thusawi a tlai.
• Muscle chak lohna (hei hi ``hypotonia'' an ti). Chumi awmzia chu taksa chu a limp deuhin a hria tihna a ni.

Growth leh gastrointestinal lama harsatna awm thei

Hei hian naupang thanlenna leh ei leh in a nghawng thei a ni.

• Pian tirh lamah chuan san zawng leh rihna chu a pangngai mai thei a, mahse thla 12 velah chuan thanlenna lama harsatna thenkhat a lo lang thei.
• Lu lian zawng hi a tlangpui aia te zawk pawh a ni thei.
• Ei leh ei harsatna a awm thei.
• I naupan lai leh puitling i nih hunah pawh thau lutuk hi a hlauhawm hle.

Pawimawh: Heng chhinchhiahna pakhat emaw pahnih emaw chauh hian naupangin Kabuki syndrome a nei tihna a ni hauh lo. Diagnosis dik tak neih theih nan doctor advice lak a pawimawh hle.

Organ leh system dang a nghawng thei te

Heng symptom lian ber berte bakah hian Kabuki syndrome hian harsatna dang chi hrang hrang a thlen thei a ni.

• Congenital heart disease (pian tirh atanga thinlung natna awm).
• Gastrointestinal problems (e.g. constipation, gastrointestinal reflux emaw ei tur ril chhunga lo lut emaw).
• Kidney leh reproductive system lama harsatna awm thei.
• Hmai leh/ emaw, hmui a inthen.
• Mitmeng tla emaw, mitmeng tlak emaw.
• Ha inkar ah gap lian tak tak neih.
• Infection neih fo emaw, autoimmune disorder emaw vei theihna a sang.
• Hriatna lama harsatna nei.
• Precocious puberty (a puitlin hma) a ni.

Eng thilin nge Kabuki syndrome hi a thlen?

Okay, tunah chuan he dinhmun hi a chhan bulpui ber hi han en ila. Kabuki syndrome hi gene pahnih zinga pakhata danglamna (variant) avanga lo awm a ni.

A tam zawkah chuan 75% vel chu `KMT2D` (hmanlai chuan `MLL2` tia hriat) gene pakhata mutation vang a ni. Hei hi Kabuki syndrome type 1 an ti a.

A dang 3% atanga 5% te hi gene KDM6A mutation vang a ni. Hei hi Kabuki syndrome type 2 an ti a.

A awlsam zawngin, heng gene pahnih hian kan cell-te chu enzyme bik siam turin an hrilh a ni. Heng enzyme te hian proteins histones an tih te chu an siam danglam thin. Heng histones te hi kan DNA ah an inzawm a, kan chromosome te chu an pianzia an pe thin. Chuvangin, heng histones te hi siam danglamin, chu enzyme te chuan kan genes te hnathawh chu an control thei a ni. Heng enzyme te hi naupang thanlenna atan an pawimawh hle.

Chuvangin, `KMT2D` gene emaw, `KDM6A` gene emaw a inthlak chuan heng enzyme te hi a lo piang lo. Tichuan, taksain heng enzyme te hi a neih loh avangin genes te chu a thawk tha lo hle a ni. Chu chu Kabuki syndrome-a symptoms leh developmental abnormalities hmuh tur awm chhan a ni.

Mahse, a chang chuan Kabuki syndrome hi hmuhchhuah a ni a, mahse gene pahnih zingah hian danglamna hmuh tur a awm lo. Chutiang hunah chuan mithiamte chuan an natna thlen chhan dik tak chu an la hre chiang thei lo.

Doctor-te hian engtin nge hei hi an hriat?

I fa hian heng symptoms te hi a nei nia i hriat chuan i tih hmasak ber tur chu doctor pan a ni. Doctor chuan i fa medical history a zawt ang che a, i fa chu a enfiah ang. Kabuki syndrome nena inzawm, hmel lan dan bik, ruh lama harsatna, emaw, thluak lama harsatna nei te chu a zawng ang. Naupang chhungte (biological family) damdawi lam chanchin pawh a zawt ang.

Diagnostic test te pawh a awm

Diagnosis finfiah nan doctor chuan genetic testing a ti ang. Hei hian naupang thisen sample lak a, Kabuki syndrome thlentu genes inthlak danglamna zawng a huam a ni.

Ka sawi tawh ang khan Kabuki syndrome nei naupang thenkhat chuan heng gene pahnih zingah hian mutation an nei lo mai thei. Chutiang hunah chuan doctor chuan thisen test dang emaw, chromosomal study emaw a nei thei a, chu chuan natna dang a neih loh nan a hmang thei a ni.

Kabuki syndrome hi eng enkawlna nge ni?

Hei hi a lungchhiatthlak deuhin a lang thei a, mahse Kabuki syndrome hi damdawi a awm lo. Mahse, enkawl dan erawh a awm. Heng enkawlnate hian a tum ber chu i fate natna lan chhuah dan bikte control a, harsatna a thlen theihna tur tihtlem a ni. Heng enkawlna kawng hrang hrangte hi eng nge ni tih hi han thlir ila:

• Early interventions: Naupang chu a naupan lai atanga support services leh special education programme-a refer hian an rilru lama hmasawnna a pui thin.
• Sensory integration therapy: Hei hian naupang chu sensory activity hrang hranga inhriat tir a, stimuli an dawn dan tur enkawl tura puih a ni.
• Therapeutic treatment hrang hrang: 1.1.
• Physical therapy hian naupang ruh (muscle) a tichak thei a ni.
• Occupational therapy hian fine motor skills tihhmasawn nan a pui thei a, chu chu kut zungtang hmanga chetna tenau te tih te hi a ni.
• Speech therapy hian thusawi leh tawng thiamna a tipung thei a ni.
• Chaw thickened leh/ emaw gastrostomy tube dah: I fain ei harsatna a neih chuan i doctor chuan heng duhthlannate hi a rawn rawt thei ang.
• Supplemental growth hormone therapy: Naupang growth hormone tlakchham leh kum tawi te te hian he enkawlna hi an hlawkpui thei a ni.
• Hearing aid emaw pressure-equalizing tube emaw: Hriatna hloh i neih chuan heng hmanrua te hian a pui thei a ni.
• Damdawi: Damdawi hmang hian natna lan chhuah dan, seizures, gastrointestinal reflux, leh ADHD (attention deficit hyperactivity disorder) te control theih a ni.
• Inzai:Scoliosis, thinlung natna, hmui leh hmui cleft ang chi thilte tan operation a ngai fo thin.

I fa enkawlna dik tak chu an taksa peng hrang hrang a nghawng dan leh an natna lan chhuah danah a innghat ang. Specialist hrang hrang (e.g., cardiologist, neurologist, dentist, endocrinologist, gastroenterologist, immunologist, ophthalmologist, emaw urologist) te pawh an hmuh a ngai thei bawk.

Tunah hian Kabuki syndrome chhan bulpui damdawi zawng turin clinical trial leh zirchianna dang neih mek a ni.

Ka fa hian Kabuki syndrome a nei a nih chuan engtin nge ka puih theih ang?

Hetiang thil i hriat hian mangang leh hlauthawng tih hi thil pangngai tak a ni. Mahse, nangmah chauh i ni lo. I tih theih pawimawh ber chu he dinhmun hi i theih ang anga zir hi a ni. I fa doctor nen thawk ho la, i fa enkawlna tha ber pek theih nan eng nge i tih theih tih hre rawh. Natna hlauhawm tak nei naupang chhungkaw tanpuitu pawla tel ve pawh a \angkai hle thei bawk. Chutah chuan nu leh pa dangte hnêna thiltawnte i sawi thei a, zawhna i zawt thei a, thlamuanna i hmu thei bawk.

Kabuki syndrome vei dam rei zawng chu engzat nge ni ang?

Kabuki syndrome vei te prognosis leh dam rei zawng chu an dinhmun nasat danah a innghat a ni. He natna hian taksa peng tam tak a nghawng thei a, mahse a ni reng reng lo. Naupang natna lan chhuah dan bik enkawl leh harsatna awm thei ven hi an hmalam hun tihchangtlunna kawng pawimawh tak a ni.

Hetiang natna vei puitlingte hian dam chhung pangngai an hmang thei a ni. Nitin hna an thawk thei a, part-time hna an thawk thei bawk. Mahse, ṭanpuitu enkawlna an mamawh fo ṭhîn. He natna hi a tlem em avangin Kabuki syndrome vei te dam rei zawng chungchangah zirchianna tam tak a la awm lo. Chuvangin, i fate doctor hnenah an dinhmun bik a zirin an dam rei zawng zawt la a tha ber.

A tawp berah chuan thil hriat reng tur

I naute hian genetic condition a nei tih hriat chu a hlauhawm thei hle. Mahse, Kabuki syndrome natna lan chhuah dan, a enkawl dan leh a hmalam hun tur chu mi hrang hrangah a inang lo hle. I fate dinhmun bik hriat belh duh chuan i fa doctor nen inbia ang che. He zinkawngah hian a pui thei che a ni. Genetic condition tlemte avanga harsatna tawk chhungkaw tanpuitu pawl pawh hi chakna nasa tak a ni thei bawk. I zawhnate chu an chhang thei a, i fa dinhmunah beiseina an pe thei che a ni. Mahni chauha inhriat ngai suh. I mamawh tanpuina dawng hreh suh.

`Kabuki Syndrome, Genetic Diseases, Naupang Natna, Hmêl lan dan, Hmasawnna lama harsatna, Thinlung lama hmasawnna, Kabuki Syndrome, Rare Diseases