I fa chu a chau reng em? Thisen sugar a nei tlem em? Hei hi Glycogen Storage Disease (GSD) vang pawh a ni thei.

I naupang tê chu a chau a, a chau fo em? Kum inang naupang dang tlan kual leh inkhelh lai hian i fa chu a sir lamah tlem a ding em? A nih loh leh, i fa chu chaw ei laiin a rawn sen nghal vat a, a thawk a, a khur bawk em? Nu leh pa i nih angin heng thilte hi i hmuh hian hlauhna nasa tak i neih hi thil pangngai tak a ni. Chutiang natna lan chhuah chhan tam tak awm thei mah se, vawiinah hian chutiang chhinchhiahna thlentu dinhmun tlemte, mahse pawimawh tak tak kan sawi dawn a ni. Chu chu Glycogen Storage Disease, a tawi zawngin (GSD) a ni.

A awlsam zawngin, Glycogen Storage Disease (GSD) hi eng nge ni?

Okay, hei hi awlsam takin i hrethiam ang u. Kan taksa hi motor ang maiin han ngaihtuah teh. Car pakhat chu a tlan theih nan gasoline a mamawh a ni. Chutiang bawkin kan taksa hian heng zawng zawng ti tur hian chakna a mamawh a, tlan, zuang, ngaihtuah leh tawngtai a ngai a ni. Kan taksa chakna petu ber chu glucose , chu chu sugar mai a ni. He glucose hi kan ei carbohydrate ei tur, buhfai, chhang, leh alu atanga kan hmu a ni.

Tunah chuan kan ei hian kan taksa hian chutih lai chuan chakna a mamawh aia tam glucose a hmu ta a ni. Chuti a nih chuan kan taksa fing tak hian eng nge a tih? Chu glucose extra chu a hnua hman tur atan a dahkhawm thin. Kan phone-a power bank charge reng ang mai a ni. Hetiang glucose dahkhawm dan hi glycogen an ti a . He glycogen hi kan liver leh muscle ah a awm tam ber .

Kan ei loh hian, emaw, exercise kan tih lai ang chi chakna tam tak kan hman hian kan taksa chuan chu glycogen dahkhawm chu glucose-ah a chantir leh a, chakna atan a hmang leh thin.

Hetah hian he thil kalphung zawng zawng hi a awm a, chu chu glucose chu glycogen-ah leh glycogen chu glucose-ah a chantir leh theih nan kan taksa hian protein chi khat bik a mamawh a ni. Enzyme kan ti a . Factory-a hnathawk tur hnathawk neih ang mai a ni.

Glycogen Storage Disease (GSD) hi kan taksaah heng enzyme pakhat emaw a aia tam emaw a bo emaw, a thawk tha lo emaw a nih chuan a lo awm thin a ni. Chumi awmzia chu taksain glycogen a khawlkhawm tha thei lo emaw, a mamawh hunah glycogen dahkhawm chu a hmang thei lo tihna a ni. Hei hian thisen sugar level hlauhawm taka tlahniam (hypoglycemia) leh taksa ruh chak lohna te a thlen thei a ni.

GSD chi engzat nge awm?

Awle. Kan sawi tawh ang khan glycogen metabolism-ah hian enzyme chi hrang hrang a inrawlh a. Chuvangin, chutiang enzyme pakhat zel tlakchham dan azirin GSD chi hrang hrang a awm. Tun thlengin chi 19 chuang hmuhchhuah a ni tawh. An vai hian kan hre tam lo hle nachungin, a chi hrang hrang thenkhat erawh chu kan hrethiam tha hle.

Heng GSD chi hrang hrangte hian liver emaw muscle emaw a nghawng ber a ni.. Mahse chi thenkhat chuan taksa peng dangah harsatna a thlen thei bawk. Doctor-te chuan heng chi hrang hrangte hi a kaihhnawih enzyme hming emaw, natna hmuchhuak hmasa ber scientist emaw hmingin an ko thin. Chung zinga a tam ber chu GSD type I (GSD type I) a ni a, von Gierke natna tia hriat bawk a ni.

GSD natna lan chhuahna berte chu engte nge ni? Engtin nge kan hriat chian?

GSD symptoms hi natna chi hrang hrang a zirin a danglam thei a, mimal chi khat nei zingah pawh a inang lo thei bawk. GSD chi khat, type I chu naute thla thum atanga thla li a nih atangin a lo lang tan tlangpui . Mahse, chi thenkhat chu a hnu lawkah, a then phei chuan puitling naupang takah pawh symptoms nen an rawn lang thei.

A lan chhuah dan tlangpui leh langsar ber pahnih chu:

1. Thisen thlum hniam (hypoglycemia) .

2. Exercise emaw, inkhelh lai emawa hah awlsam (exercise intolerance) .

Heng symptoms te hi chipchiar deuhin han thlir ila.

Engvangin nge GSD hi a lo thang lian? Hrilhfiahna natna a ni em?

Ni e, GSD hi thlahtute atanga lo chhuak natna a ni vek . Chumi awmzia chu he natna hi nu leh pa atanga fate rochun genes mutations avanga lo awm a ni tihna a ni.

GSD tam zawk hi autosomal recessive pattern-a inherit an ni. A awlsam zawngin sawi ila, naupangin natna a neih theih nan nu leh pa pahnih hian natna atana mutated gene chu an rochun a ngai tihna a ni. Gene hi nu leh pa pakhat chauh atanga rochun a nih chuan naupang chu carrier a ni ang a, symptoms a lantir lo ang.

Mahse, chi tlemte, GSD type IX ang chi chu X-linked inheritance tih pattern-ah an inherit a ni. Chumi awmzia chu natna thlentu gene chu X chromosome-ah a awm tihna a ni. Mipa naupangin he gene hi a rochun chuan symptoms a nei ngei ang.

Engtin nge doctor hian he natna hi a hriat chian tak tak?

GSD hi natna awm lo tak a nih avangin a hriat theih nan hun rei tak a ngai thei a ni. Doctor chuan a hmasa berah chuan natna tlangpui dang a awm loh nan a enfiah hmasa phawt ang. I fa natna lan chhuah dan i zawh hnuah leh i fa i enfiah hnuah doctor chuan test eng emaw zat neih a rawt fo ang.

Chûng zîngah chuan:

• Fasting blood sugar test: Chawhmeh ei hmaa thisen sugar level enfiah thin. Sugar level a hniam hle a nih chuan GSD chhinchhiahna a ni thei.
• Ketone blood test: Taksain chakna atan glucose a hman theih loh chuan chakna atan thau a hal thin. Chutih lai chuan chemicals ketones an tih chu siam chhuah a ni. GSD vei naupangte thisenah ketone level a sang thei hle.
• Thisen cholesterol (Lipid panel) leh uric acid level enfiah: GSD vei naupangte zingah hian heng level te hi a sang fo thin.
• Liver function test: Heng test te hian liver a chhiat leh chhiat loh hriat theih nan a pui thin.
• Abdominal ultrasound: Hei hian thin (liver) a lian em (hepatomegaly) a hriat theih nan a pui a ni.
• Genetic testing: Hei hi natna finfiah dan tha ber a ni. GSD nena inzawm enzyme siamtu genes-a mutation awm leh awm loh enfiah nan thisen sample lak a ni.

A then phei chuan, a natna hmuhchhuah dan 100% a chiang tur chuan doctor chuan liver emaw muscle emaw atanga tissue te tak te chu enfiah (biopsy) atan lak a rawt thei a ni.

Hei hi eng enkawlna nge ni? Dam theih vek a ni em?

Vanduaithlak takin GSD hi damdawi a la awm lo. Mahse, lungngai suh.Enkawlna tha tak tak a awm a, chu chuan natna lan chhuah dan a thunun thei a, naupang chu nun pangngaia a nun theih nan a pui thei bawk. Natna chi hrang hrang a zirin enkawl dan a inang lo.

A tum ber chu thisen sugar level hlauhawm taka a tlahniam loh nan leh a level nghet taka vawn reng a ni.

Enkawl dan thenkhat chu hetiang hi a ni:

1. Chaw pek fo: A bik takin naupang tê tê, darkar tlemte danah chaw pein an thisen sugar level chu a nghet theih nan an bei thin.

2. Uncooked Cornstarch hman: Hei hi GSD enkawlna atana hmanraw pawimawh tak a ni. Cornstarch hi carbohydrate complex tak a ni a, kan taksa tan chuan ei harsa tak a ni. Chuvangin cornstarch tlemte tuiah a hmin a, kan in chuan zawi zawiin thisenah glucose a chhuah tir thin. Hei hian darkar engemaw zat chhung thisen sugar level a ti nghet thei a ni. Hetiang method hian thisen sugar tlahniam venna atan a bik takin zan lamah a pui hle .

3. Hypoglycemia enkawl nghal rawh: Hypoglycemia symptoms a lan veleh thisen sugar level rang taka siam that nan glucose tablet emaw, sugary drink emaw pek tur a ni. Hei hi tihkhawtlai chuan natna khirh tak tak, seizures ang chi a thlen thei a ni.

4. Harsatna dang enkawl dan: Cholesterol level sang (hyperlipidemia) leh uric acid level sang (hyperuricemia) ang chi natna tan chuan doctor chuan damdawi mamawh (e.g. allopurinol, statins) a pe ang.

5. Enzyme Replacement Therapy (ERT): GSD chi thenkhat, Pompe natna ang chi tan chuan enzyme bo chu IV infusion hmanga thlak danglam thei enkawlna a awm a. Hei hi zirchian mek a ni.

6. Liver Transplant: GSD vanga liver a chhiat nasat chuan a tawp ber atan liver transplant a ngai mai thei.

Hetiang dinhmun nena kan nun hian eng harsatna nge lo awm thei?

Natna hi a hmaa hriatchhuah a nih loh a, uluk taka enkawl a nih loh chuan harsatna chi hrang hrang a awm thei a ni. Chungte pawh chu natna chi hrang hrang a zirin a inang lo. Entirnan, GSD type I enkawl loh chuan harsatna a thlen thei a, chungte chu:

• Ruh chak lo leh awlsam taka chhe thei (osteoporosis) .
• Puberty hun sawn hlat
• Gout tih hi a ni
• Kal natna
• Cancer nei lo liver tumor (hepatic adenomas) te hi a awm thei lo.
• A rilru a buai em em a, a rilru a hah em em bawk a.
• Thisen sugar level hniam fo hian thluak hnathawh a tichhe thei a ni.

Mahse, heng harsatna tam tak hi a hmaa hriat chhuah a, enkawl dan dik leh enkawl a nih chuan a veng thei tih hre reng ang che.

GSD nei mi pakhat dam rei zawng chu engzat nge ni ang?

Hei hi natna chi hrang hrang, a hriat hma leh enkawl that danah a innghat a ni. Nausen chi thenkhat chu nausen laiin thihna thlen thei a ni. Mahse chi tam zawkah chuan enkawl dan dik a nih chuan dam chhung pangngai a awm thei. I doctor chuan i fa dinhmun sawifiahna tha ber a pe thei ang che.

Engtikah nge Doctor kan hmuh ang?

I fa hian a hmaa kan sawi tawh ang khan thisen sugar tlahniam chhinchhiahna (a khur, thawk hah, a sen hring) a lantir reng a nih chuan, emaw, i fa chu a thang tha lo emaw, taksa ruh a chak lo emaw tih i hriat chuan naupang doctor pan ngei ngei tur a ni.

GSD hi natna khirh tak a nih avangin he lam hawia hriatna bik nei doctor hnen atanga enkawlna lak a pawimawh hle. He zinkawngah hian i fa medical team te chuan kawng tinrengin an thlawp ang che.