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

I naute thanlenna leh thanlen dan chungchangah emaw, a ei leh in dan chungchangah emaw ngaihtuahna engemaw zat i nei tawh mai thei. Naute thenkhat chuan enkawlna bik tlem an mamawh. Vawiin hian kan sawi dawn a, thil awmdan hmuh tur awm lo mahse pawimawh tak, i hriat tur a ni.

Prader-Willi Syndrome hi eng nge ni?

A awlsam zawngin sawi ila, Prader-Willi Syndrome (PWS) hi genetic condition hmuh tur awm lo tak a ni a, naupang metabolism a nghawng a ni. Naupang thanlenna leh nungchang a tidanglam thei a ni.

Hetiang natna vei naupang te hian taksa ruh ( muscle tone) a nei tlem hle (hypotonia). Chumi awmzia chu taksa chu chak lo hlein a inhria thei tihna a ni. A tir lamah chuan hnute pek leh ei hi a harsa mai thei. Mahse, kum hnih leh kum ruk inkarah chuan ei duhna pangngai lo, a nih loh leh riltam reng reng (hyperphagia) a lo awm tan thin. Chaw ei hi uluk taka control a nih loh chuan he ei tam lutuk hian naupang chu a lian hle thei a, a nih loh leh thau lutuk a thlen thei bawk.

Tin, PWS hian naupang chu a thanlenna milestone pangngai a paltlang thei a, puitlin hun a tikhawtlai thei bawk. A tlem berah chuan nunna atana hlauhawm harsatna a awm thei a, chu chu thawk lama harsatna, thau lutuk avanga rilru leh thisen kalna lama harsatna, mut lama thawk hah, leh zunthlum te hi a ni.

He dinhmun hian tute nge a nghawng ber?

Dik tak chuan he Prader-Willi syndrome an tih hi tu chungah pawh a thleng thei a ni. Genetic a nih avangin random takin a thleng fo thin a, chu chu germ cells a lo awm hian chhan awm lovin a thleng tihna a ni. A tlem hle a, chhungkaw zinga mi pakhatin hetiang dinhmun hi a lo neih tawh chuan rochun theih a ni.

Prader-Willi Syndrome hi engtiang chiahin nge a awm?

Hei hi thil awm lo tak a ni. Khawvel hmun hrang hrang i en chuan naute 10,000 zinga pakhat atanga 30,000 zinga pakhat vel a ni. Chuvangin, hei hi a tlem zia chu i ngaihtuah thei ang.

Prader-Willi Syndrome natna lan chhuah dan chu engte nge ni?

PWS hian mi tinte a nghawng dan hi a inang lo thei a, mahse a lan chhuah dan tlangpui a awm.

Nausen laia natna lan chhuah dan: 1.1.

Heng symptom thenkhat hi naute pian veleh hmuh theih a ni:

• A tap chak lo .
• Chau leh chau reng reng.
• Suck leh ei harsa (Chaw pek thiam lohna).
• Taksa chak lo , emaw taksa ruh (muscle tone) tlakchham (`hypotonia`). I taksa chu doll ang maiin a tla thla ang maiin a lang thei.

Naupang a lo puitlin ruala taksa pianphung lo langte: 1.1.

Heng mizia te hi pian tirh lamah a awm fo thin a, mahse naupang a lo puitlin chuan a langsar zual sauh thin:

• Almond ang maia mitmeng .
• Lu sei tak, zim tak a ni.
• A hmui chu triangular a ni.
• Naupang dang aiin tlem a tawi zawk (short height).
• Kut leh ke te te.
• Genitals lo thanglian lo.

Naupang hmasawnna leh nungchang tichhe thei mizia: 1.1.

Hengte hi nu leh pate hian a chang chuan an hriat tam ber, a harsa deuh thei bawk:

• Temper tantrums , rilru natna emaw, rilru na tak emaw.
• Intellectual disability: Hei hian thil thar zir leh hriatthiam nan hun rei tak a mamawh tihna a ni.
• Obsessive emaw compulsive behavior emaw vun picking ang chi te .
• Mut lama harsatna nei. A châng chuan nilengin mutthilh nasa takin i inhria a, zanah chuan mut theih loh ang maiin a awm bawk.
• Ei leh in lama harsatna nei. Hei hi symptom langsar ber a ni. Eng ang pawhin ei mah la, i chaw ei kham lo. Hei hian ei tam lutuk (hyperphagia) a thlen thin.

I fa hian eng ang pawhin ei mah se, "Ka duh belh zel a, ka ril a tam tawh," a ti reng a nih chuan a harsat dawnzia han ngaihtuah teh. Hetianga ei tam lutuk hian class III obesity a thlen thei a, hei hian harsatna dang, zunthlum leh thinlung natna te a thlen theihna a tipung thei a ni.

Hei hi eng nge a chhan? Engvangin nge hetiang hi a lo awm?

Prader-Willi syndrome hi kan genes inthlak danglam vang a ni. A bik takin kan taksaa chromosome 15 -a gene thenkhat chu an thawk tha lo hle.

Kan naupai lai hian chromosome 15 copy khat kan nu hnen atangin kan dawng vek a, kan pa hnen atangin copy khat kan dawng bawk. A tlangpuiin kan pa atanga chromosome 15 copy-a genes te hi an activate a, chu chu "on" tihna a ni. Kan nu atanga chromosome 15 copy-a gene awmte chu "off" a ni a, chu chu a ngawi reng tihna a ni. Hei hi `genomic imprinting' kan ti a ni. Amaherawhchu, kan taksaa gene awmte a thawh that theih nan copy pahnih hi a ngai a ni.

Tunah chuan, `PWS` dinhmun hi he chromosome 15-a inthlak danglamna engemaw zat avanga lo awm thei a ni:

• Chromosomal deletion : PWS vei zinga 70% vel ah chuan pa hnen atanga chromosome 15 rochun zinga a then chu cell tin ah a awm lo. Chuvangin, symptoms hi pa atanga genes te hian hna a thawk tha lo va, nu atanga genes te chu a silent vang a ni.
• Maternal uniparental disomy: Naupang pakhatin chromosome 15 copy pahnih chu an nu hnen atangin a rochun a, pakhat mah a pa hnen atangin a rochun lo. Hetiang a nih chuan chromosome 15 copy pahnih hi a ngawi reng a, chuvangin genes te chu an thawk tha lo hle.
• Translocation: 1% aia tlem loah chuan chromosome 15 chi khat chu a inthen a, chromosome dang nen a inzawm leh thin. Tichuan, genes te chu an awmna tur hmunah an awm lo va, chuvang chuan an hnathawh tur ang chu an thawk lo.

A awlsam zawngin sawi ila, he chromosome 15 hi kan cell-te thil chi hrang hrang ti thei tura puitu `small nucleolar RNAs (snoRNAs)` an tih thil siam dan tur thupek petu a ni. Heng `snoRNAs` te hian `RNA` molecule dangte an thunun a ni. `RNA` molecule te hian protein an siam a, chu protein te chuan cell ah hna tam tak an thawk a ni. Chuvangin, chromosome 15-a harsatna a awm chuan he thil kalphung zawng zawng hi a kal sual vek a ni.

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

Doctor chuan naupang chu uluk taka enfiah a, genetic test a tih hian Prader-Willi syndrome a nei tih a hmuchhuak a ni. Doctor chuan naupang taksa pianphung a en ang a, i fa natna lan chhuah dan te, ei leh in dan te, nungchang te a zawt ang che.

PWS rinhlelhna a awm chuan genetic test neih tir a ni ang. Hei hi thisen test a ni tlangpui. Hei hian naupang DNA-ah thil danglam a awm leh awm loh, chu chu gene-a inthlak danglamna a awm leh awm loh dik takin a hre thei a ni.

Hei hi eng enkawlna nge ni?

Prader-Willi syndrome enkawlnaah hian a natna lan chhuah dan control leh harsatna awm thei ven hi ngaih pawimawh ber a ni. Hemi atan hian enkawlna pakhat chauh a awm lo a, mahse enkawlna hrang hrang inzawmkhawm hman a ni.

Enkawl dan tur: 1.1.

• Naute te tan chuan bawnghnute in tur atana pui turin special bottle nipples ang chi special devices i hmang thei ang . Suck harsa an tih avangin an mamawh nutrition an neih a ngai a ni.
• A pawimawh ber chu i fate ei tur dik tak ei tura puih hi a ni . Hei hian calorie tlem ei tur pek leh an ei zat control tihna a ni. Hei hi a harsa deuh thei a, i fa chuan a riltam fo ang.
• Hormone thenkhat tihpun nan damdawi pek thin a ni . Entirnan, growth hormone. Mipa tan chuan testosterone emaw human chorionic gonadotropin (HCG) emaw pek theih a ni a, hmeichhia tan chuan estrogen pek theih a ni bawk.
• Supportive therapies hi a pawimawh hle. Physical therapy hian taksa ruh a tichak a, speech-language therapy hian tawng a titha a, special education hian naupang zir theihna a tichak bawk.

Prader-Willi Syndrome hian eng side effect nge a neih?

Vawi tam tak chu hetiang natna nei naupangte hi ei tam lutuk vangin an thau hle thin. Hetianga thau lutuk hian harsatna dang a thlen thei a ni:

• Lung lam harsatna a awm.
• Zunthlum (Type 2 Diabetes) a ni.
• Thisen sang (Hypertension).
• Thluak lama harsatna a awm.
• Mut theih lohna (sleep apnea) a awm.

Thau lutuk hi thil buaithlak tak ni mahse, enkawl theih a ni. Hemi chungchangah hian i fa doctor-in kaihhruaina tha tak a pe thei ang che.

Hei hi kan veng thei ang em?

Vanduaithlak takin Prader-Willi syndrome hi a veng thei lo . Genetic a ni. A tam zawkah chuan random genetic mutation avanga lo awm a ni. A sawi lawk theih loh khawp mai. Naupai hma leh naupai laia nu leh pate thil tih avanga lo awm a ni lo.

Fa dang neih i tum a nih chuan, a nih loh leh hemi chungchang hi hriat belh i duh chuan genetic counseling lak a tha. Tichuan, he genetic condition nei fa neih theihna tur risk chungchang i sawi thei ang.

Ka fa hian Prader-Willi Syndrome a vei a nih chuan eng nge ka beisei ang?

Hei hian lungngaihna leh mangang takin a siam thei che a ni. Chu chu thil pangngai a ni. Mahse, a tir a\anga enkawl \ha leh enkawlna \ha chhunzawm zel chuan Prader-Willi syndrome nei naupang tam zawk chu nun pangngaiin an hmang thei a ni.

Sikul hnathawhnaah tanpuina dang mamawh hi thil pangngai a ni. PWS vei naupang zawng zawngte chuan an dam chhung zawngin a theih ang anga mahni inrintawkna neia an awm theih nan tanpuina an mamawh vek ang. I doctor chuan nutritionist hnenah a refer thei che a ni. I fate ei leh in enkawl dan tur leh ei tur ruahmanna siam turin an pui thei che a ni. Nu leh pa leh chhungkaw tan pawh rilru lam hriselna lama counselor hmuh emaw, he natna vei naupang nei chhungkaw tanpuitu pawla tel emaw hi a \angkai hle bawk. Chu chuan i fate hmachhawn dân leh ṭanpui dân kawng thar zir tûrin a ṭanpui thei che a ni.

Hei hi damdawi famkim a awm em?

Ni lo, tunah hian Prader-Willi syndrome hi damdawi a la awm lo . Mahse, he dinhmun hi hriat chian lehzual turin zirchianna kalpui mek a ni.

Engtik hunah nge doctor ka hmuh ang?

I fain Prader-Willi syndrome symptoms a nei nia i hriat chuan i fa doctor pan nghal rawh . Nausen laia hmasawnna tihkhawtlai (missed developmental milestone) engmah ngaihthah suh. He natna hi hriat hmasak a nih chuan i doctor chuan i fate dinhmun enkawl kawngah a pui thei a, an hmasawnna tur milestone an thlen theih nan a pui thei a, an ei leh in control-in harsatna a tihziaawm thei bawk.

Doctor hnenah eng zawhna nge ka zawh ang?

Doctor hmu tura i kal dawnin hetiang zawhna hi zawh a tha ang:

• Engtin nge ka fa chu thau lutuk laka humhim turin ka puih theih ang?
• Ka fa enkawlnaah hian eng nge a tel ang?
• Ka fa hian eng nungchang lama harsatna nge a neih theih ang?
• PWS chungchang zir leh hmachhawn thei tur support group an awm em?
• Ka chhungkaw dang zawng zawng tan genetic test neih hi a tha em?

I fa hian genetic condition hmuh tur awm lo, tihdam theih loh a nei tih i hriat chuan i rilru a buai tih hi thil pangngai a ni. Mahse, i fa medical team chuan i mamawh tanpuina leh kaihhruaina an pe ang che. I fa hian an kum rualpui naupang dangte aiin a hmasawnna tur thil pawimawh tak tak a thlen theih nan hun a duh rei zawk thei. Tin, harsatna an tawh loh nan dam chhung zawnga tanpuitu enkawlna an mamawh dawn bawk. I fa natna hmuhchhuah dan emaw, i fa enkawl dan tur tha ber emaw chungchanga zawhna i neih chuan i fa doctor nen inbiakna neih hreh suh.

Kan hriat reng tur pawimawh ber berte (Take-Home Message) .

Okay, chuvangin vawiin a Prader-Willi Syndrome chungchanga kan sawi tawh pawimawh tak tak thenkhat kha han sawi nawn leh ila:

• Hei hi genetic condition hmuh tur awm lo tak a ni a, nu leh pa sual vang a ni lo tihna a ni.
• Symptoms thenkhat chu nausen lai pawhin hmuh theih a ni , chu chu lehargy leh nau hnute pek harsatna te hi a ni.
• riltam leh ei tam lutuk hi he natna lan chhuahna pawimawh tak a ni a, chu chuan thau lutuk a thlen thei a ni.
• Hei hian naupang thanlenna, nungchang leh zirlai a nghawng thei a ni.
• Damdawi awm lo mah se, natna lan chhuah dan control thei tur leh nun tha zawk nei thei tur enkawlna a awm. He natna hi hriat hmasak a, enkawl tan a pawimawh hle.
• Nu leh pa leh chhungte tanpui hi a pawimawh hle. Doctor, nutritionist, therapist leh support group te hnen atangin tanpuina i dawng thei a ni.

He thu hi in tan a tangkai ngei ka beisei. I fa chungchangah ngaihtuahna i neih chuan doctor thurawn la hreh suh.

` Prader-Willi syndrome, PWS, genetic diseases, naupang hriselna, thau lutuk, ei leh in, hmasawnna tlai