I naute chu a thaw thei lo em ni? Pompe Disease a ni thei ang em?

I naupang tê chu a rilru a hahdam a, a rilru a hah em? A kum rualpui naute dang angin a che lo va, a thu mai mai em ni? A nih loh leh, naupang upa deuh deuh tan chuan kea kal, tlan, a nih loh leh zuang chu a harsa em? Nu emaw pa emaw hian hetiang thil an hmuh hian hlauhna nasa tak an nei hi thil pangngai tak a ni. Mahse heng thilte hi a pangngai reng reng lo. Vawiin hian kan sawi tum chu natna hlauhawm tak, taksa ruh chak lohna thlentu, mahse kan ramah chuan hriat hlawh vak lo a ni. Chu chu Pompe Disease a ni.

A awlsam zawngin Pompe Disease hi eng nge ni?

Pompe natna hi genetic disease a ni a, kan taksa cell chhungah hian complex sugar glycogen an tih chu a khawlkhawm thin a ni. Natna pawl pakhat, glycogen storage diseases an tih zingah a tel a ni.

Okay, tunah chuan hei hi tlem a awlsam zawkin i hrethiam ang u. Kan taksa hian enzyme pakhat acid alpha-glucosidase , a tawi zawngin GAA tih a nei a. He enzyme hnathawh ber chu ka sawi tawh ang khan glycogen an tih complex sugar chu a tichhia a, chu chu sugar awlsam tak, glucose-ah a chantir a, chu chuan kan taksain a mamawh chakna a siam chhuak thei a ni.

Pompe natna veiah chuan taksain he GAA enzyme hi a siam chhuak lova, a nih loh leh a siam chhuah tlem hle. Chuti a nih chuan eng nge thleng ang? Glycogen tihchhiat dan tur a awm loh avangin zawi zawiin kan cell chhungah a pungkhawm tan ta a ni.

Kan cell chhungah hian organelle te tak te lysosomes an tih te a awm a . Hengte hi bawlhhlawh recycling center ang maia che thinte an ni. GAA enzyme hian heng lysosomes chhungah hian hna a thawk tur a ni. Enzyme a awm loh chuan heng lysosomes chhungah hian glycogen a pungkhawm a, a tichhia a, a tawpah chuan cell pumpui a tichhia a ni. He chhiatna hian kan thinlung ruh leh ruh ruh a nghawng tam ber. Hei vang hian taksa ruh chak lohna ang chi symptoms a lo lang thin.

He natna hi hming dangin kan hriat a ni:

• Acid maltase tlakchhamna a awm
• Glycogen dahkhawmna natna chi II (GSD2) .

He natna chi hrang hrang hi engte nge ni?

Pompe natna hi chi hnihah then theih a ni a, a lo awm tan kum leh a lan chhuah nasat dan a zirin a ni. Chi hnih inthlauhna hriatthiam theih nan he table hi i en ang u .

Pompe natna lanchhuahna awm thei te chu engte nge ni?

Natna chi hrang hrang a zirin symptoms a inang lo.

Nausen atanga lo chhuak symptoms te

Hetiang chiah hian naute hian a pian tirh lamah a lan chhuah loh phah thei a, mahse thla engemaw zat chhungin heng chhinchhiahnate hi a lo lang tan thin.

• Hypotonia: Hei hi a lan chhuah dan ber a ni. Naute taksa chu a limp a, rag doll ang maiin a awm. Lu chu chawi sang emaw, roll over emaw a harsa hle.
• Cardiomegaly: Heart muscle-a glycogen a awm khawm avangin thinlung hi a lian chho thin.
• Thin lian (Hepatomegaly) .
• Lei lian zawk (Macroglossia) .
• Rihna sang leh thanna lama harsatna: Naute chu a rihna a pung lo va, a taksa a tichak lo hle.
• Thâwk harsa: Chhung ruh chak lo chuan thawk a ti harsa thin.
• Ei leh in harsatna: Hnuh leh ei harsa, chu chuan bawnghnute in ang chi thilah harsatna a thlen thei.
• Thluak lam natna (khuh, khawsik) awm fo thin.
• Hriatna lama harsatna nei.

Late-onset symptoms a awm thin

Heng symptom chi hrang hrangte hi a na lo hle a, a lo thang zawi zawi a, mahse hun kal zelah a nasat phah thei a ni.

• Ke leh ruh ruh chak lo zauh zauh.
• Kal harsa leh tlu fo thin.
• Hmun zau takah taksa ruh na.
• Exercise tih theih lohna.
• Thluak lam natna vei fo thin.
• Chauh laia thawk harsa (Dyspnea).
• Zing lama lu na: Hei hi zan lama thawk mumal loh chhinchhiahna a ni thei.
• Nilengin hah lutuk leh mutthilh lutuk.
• Rihna tihtlem.
• Chaw ei harsa (Dysphagia).
• Thinlung thawk mumal lo (Arrhythmia).
• Hriatna lama harsatna nei.

Engvangin nge he natna hi a lo awm? Eng nge a chhan?

Hei hi natna a ni a , a chhan chu a thlahtute atanga lo chhuak a ni . Kan taksaah hian GAA an tih gene a awm a. He gene hi a chunga kan sawi tak GAA enzyme siam dan tur hrilhtu a ni. Pompe natna hi he GAA gene-a mutation awm vang a ni. He mutation hian GAA enzyme siam chhuahna a tihtlem emaw, a titawp vek emaw a ni.

He natna hi ‘Autosomal Recessive’ pattern-a rochun a ni. Chu chu eng nge a awmzia?

Nu leh pa pahnih hi carrier an nih chuan naupangin he natna hi a vei theihna chance 25% a awm a, naupang pawh carrier a nih theihna chance 50% a awm a, naupangin genes chhia a rochun loh bakah a hrisel theihna chance 25% a awm bawk.

He natna hi engtin nge doctor hian a hriat theih ang?

I fa emaw, nangmah emaw doctor hnena i hruai hian an tih hmasak ber chu taksa enfiahna neiin, i chhungte damdawi lam chanchin an zawt hmasa thin. Tichuan, test tlemte an kalpui a, an natna hmuhchhuah chu an nemnghet ta a ni.

• Thisen test dan: 1.1.
• Creatine Kinase Level Testing: He enzyme hi thisenah hian taksa ruh a chhiat chuan a chhuak thin. A level a san chuan taksa ruh a chhia tih a tilang thei.
• GAA enzyme activity test: Hei hi test chiang ber a ni . Thisen sample lak a ni a, GAA enzyme hnathawh dan tehna a ni. Pompe natna i neih chuan he activity hi a hniam hle.
• Genetic Testing: He test hi GAA gene-ah hian mutations a awm leh awm loh finfiah nan tih a ni.
• Test dangte chu:
• Pulmonary function tests: Thlawhna thau chak lohna tehna.
• Electromyography (EMG): Taksa leh taksa peng hrang hrangte electric hnathawh dan tehna.
• Heart test: ECG leh Echocardiogram ang chi test te hian thinlung dinhmun a enfiah thin.
• Mut dan zirchianna: Mut laiin thawk lama harsatna awmte hriatchhuah.

Hei hi eng enkawlna nge ni?

Pompe natna hi tihdam kim theih ni lo mah se, a natna lan chhuah dan thunun thei leh nunphung tichangtlung thei enkawlna a awm.

Enkawlna ber chu Enzyme Replacement Therapy (ERT) , a ni a, GAA enzyme bo chu genetically engineering hmangin saline hmangin thisenah pek a ni.

• Alglucosidase alfa a ni
• Avalglucosidase tih hi a awm a

Heng damdawi te nen hian, .

• Thinlung lian zawk lian tham a ti tlem.
• Lung hnathawhna a siam tha leh thin.
• Muscle chakna leh hnathawh a tichak.
• Cell chhunga glycogen awm zat a ti tlem.

He ERT enkawlna bakah hian damlo hian supportive care a mamawh a ni.A pek pawh a pawimawh hle. Hemi atan hian specialist doctor leh therapist hrang hrang team te chuan hma an la mek a ni.

• Physical therapist: Taksa chakna leh chetna tichak turin exercise an pe thin.
• Occupational therapist: Mite chu nitin hna hrang hrang mahni inrintawkna neia thawk turin tanpui thin.
• Respiratory therapist: Thâwk lama harsatna awmte enkawl.
• Cardiologist te an ni
• Neurologist te an ni

Natna nasat dan azirin damlo chuan mechanical ventilation emaw, feeding tube emaw ang chi thil a mamawh thei a ni.

Hei bakah hian scientist-te chuan tunlai damdawi chi hrang hrang gene therapy , chu chu taksain GAA enzyme a siam chhuah theihna tura siam a tum a, chu chu gene chhia chu a hrisel zawka thlak a tum a ni.

Nang emaw, i fa emaw hian he natna hi i vei a nih chuan eng nge i tih theih ang?

Nangmah emaw, i fa emaw hian heng symptoms te hi i nei tih rinhlelhna tlemte pawh i neih chuan khawngaihin hun khawhral lo la, doctor pan nghal rawh. Natna hi hriatchhuah thuai a, enkawl tan a nih chuan damlo nunphung a tha zawk thei a ni.

Hetiang dinhmun hmachhawn hi thil awlsam a ni lo. Chuvang chuan psychologist hnen atanga tanpuina lak a pawimawh hle. Tin, natna inang nei midang leh an chhungte nena support group-a tel hi chakna nasa tak a ni thei bawk. Thil ropui ber chu nangmah chauh ni lo anga inhriat hi a ni.

I naute enkawl tur chuan chawlh hahdam leh rilru hahdamna i mamawh bawk. Chu chu theihnghilh suh.

I doctor hnenah hetiang zawhna hi zawt la:

• Ka fa hian eng ang Pompe natna nge a neih?
• Eng specialist dang nge kan hmuh ngai?
• Ka fate a hlim theih nan eng nge ka tih theih ang?
• Chhungkaw member dangte tan pawh genetic testing neih tir hi a tha em?
• Engtin nge he natna hi rilru lama chak taka awm reng turin tanpuina ka hmuh theih ang?