I fapa hian heng harsatnate hi a nei em? Barth Syndrome chungchang hi han sawi ila!

Kan fate naute an damloh huna nu leh pa kan nihna anga kan rilru natna rit tak takte hi tawngkam hmanga sawi chhuah a harsa khawp mai, a ni lawm ni? A bik takin thil awm lo leh buaithlak tak a nih chuan kan thinlunga hlauhna chu a pung lehzual thin. Vawiin hian hetiang dinhmun rare tak hi kan sawi dawn a, mahse mi zawng zawng tan kan hriat chian a pawimawh hle. Hei hi Barth Syndrome an ti a.

Barth Syndrome hi eng nge ni? A awlsam zawngin i hrethiam ang u!

A awlsam zawngin, Barth syndrome hi genetic condition hmuh tur awm lo tak a ni . Mipa naupangah hmuh tur a tam ber . Hetiang dinhmun hian naupang taksa peng pawimawh engemaw zat a nghawng thei a ni. A bulpui berte chu:

• Bone marrow a ni
• Thinlung
• Immune system a ni
• Muscle te hi a ni

Ngaihtuah teh, kan taksa hi machine complex tak ang mai a ni a, a peng tam tak a thawk dun a ni. Chuvangin thil pawimawh engemaw zat a nghawng chuan naupang hmasawnna pangngai leh hriselna chu kawng hrang hrangin a tuar thei a ni.

Hmeichhia hian Barth syndrome an nei lo em ni?

Hei hi mi tam takin harsatna an neih a ni. Dik tak chuan hmeichhe naupang pakhatin Barth syndrome a vei theihna chance a tlem hle . A tlangpuiin hmeichhe naupang, natna thlentu gene mutation kengte hian symptom an nei lo. Anni hi "carrier" an ti a. Chumi awmzia chu natna an nei lo, mahse an fate hnenah gene an pe chhuak thei tihna a ni. Phên dangin sawi ila, mipa naupangin natna a rochun a rinawm zawk.

Hetiang dinhmun hi engtiang chiahin nge a awm?

Barth syndrome hi a awm lo hle a ni . Statistics atanga a lan dan chuan naupang piang 300,000 zinga pakhat velin he natna hi an nei tih hmuhchhuah a ni. Chuvangin i hre tam lo mai thei. Mahse a tlem viau nachungin kan hriat chian a pawimawh hle.

Eng thilin nge Barth syndrome hi a thlen?

Hei hi a chhan ber chu Tafazzin (TAZ) tih gene a mutation vang a ni. He gene TAZ an tih hi X chromosome-ah a awm a. I hriat angin X chromosome hi taksa thanlenna kawngah nghawng lian tak a nei a ni.

TAZ gene hnathawh ber pakhat chu mitochondria , kan cell chhunga power plant te tak te, chakna siamtute mamawh protein siam chhuahna tur kaihhruai hi a ni. Heng mitochondria te hi ruh thanna kawngah pawh an tel ve bawk.

Chuvangin, TAZ gene-a mutation a awm chuan a siam protein chu a thawk tha lo hle. Hei hian mitochondria te hian hnathawh theihna tur chakna, a nih loh leh "fuel" an nei tlem tihna a ni. Chuvângin, chakna tam zâwk mamawh tissue —thinlung, taksa ruh, leh immune system ang chite chu a thawk ṭha thei lo. Hei hi Barth syndrome chungchanga biological explanation bulpui ber a ni.

Barth syndrome natna lan chhuah dan chu engte nge ni?

Barth syndrome symptoms hi mi hrang hrangah a inang lo thei. Tin, heng symptoms nasat dan pawh a inang lo thei bawk. A lan chhuah dan tlangpui thenkhat chu:

• Zun-ah hian organic acid 3-methylglutaconic aciduria level a sang lutuk.
• Dilated cardiomyopathy hi thinlung hnuai lam chamber a lian a, chu chu thinlung ruh a chak lo va, a inzawm khawm tihna a ni. Doctor te chuan hei hi dilated cardiomyopathy an ti a .
• Bacteria natna kai fo thin . Hei hi a chhan chu immune system chak lo vang a ni.
• Delayed growth : Naupang kum inang dang aiin a tawi zawk thei a, a rih pawh a tlem thei bawk.
• Lung ruh chak lohna. Hei hi cardiomyopathy an ti a .
• Thisen a thisen var chi khat neutrophils awm zat tlahniam. Hetiang dinhmun hi neutropenia an ti a . Hei hian natna hrik kai awlsam zawkin a siam a ni.
• A hmui langsar tak tak.
• Muscle tone tlakchham, flaccidity hriatna. Hei hi hypotonia an ti a .
• Kan taksa tihchakna tura min puitu ruhro chak lohna. Hei hi skeletal myopathy an ti a .

Engtiang chiahin nge heng symptoms te hi a lo lang thuai theih ang?

A tam zawkah chuan heng chhinchhiahnate hi pian tirh atangin hmuh theih a ni . Mahse, naupang thenkhatah chuan heng natna lanchhuahna hi an pian atanga thla engemaw zat hnuah a lang thei a ni. Chuvangin nu leh pa kan nih angin kan fate hmasawnna leh hriselna hi kan ngaihtuah reng tur a ni.

Barth syndrome avanga harsatna awm thei te chu engte nge ni?

Hetiang natna vei naupangte hi harsatna hrang hrang nei thei an ni a, chung zingah chuan:

• Chaw pek harsatna leh ei leh in lama harsatna .
• Diarrhea awm fo thin.
• Lu na leh taksa na.
• Thisen sugar level hniam, chu chu , hypoglycemia .
• Ruh hring leh chak lo, chu chu ruh natna (osteoporosis) a ni.
• Chau danglam tak, chau tih hriat ( fatigue ).
• Mild learning disabilities , a bik takin Mathematics ang chi subject-ah te.
• Kawngkhar natna (canker sores) a awm fo thin.

Heng harsatnate hi mi zawng zawngah a inang vek lo a, mahse a hriat chian chuan enkawlna i tan thuai thei a ni.

Engtin nge Barth syndrome hi an hriat theih? (Diagnosis) tih a ni.

Barth syndrome chhinchhiahna hmasa berte chu hriat hmasak a nih chuan naupang tan a rang thei ang bera enkawl tan theih a ni. Hei hian symptoms kal zel dan tur a control thei a, complication a veng thei bawk.

Diagnosis dik tak siam nan test eng emaw zat neih a ngai mai thei. Entir nan:

• Test, heart muscle emaw muscle tissue dang emaw te tak te lak a ni. Hei hi biopsy an ti a.Pakhat chu hei hi an ti a. Hei hian mitochondria-a chhiatna leh thil danglam dang a awm leh awm loh a enfiah thin.
• Echocardiogram test hmangin thinlung hnathawh dan enfiah a ni.
• Barth syndrome thlentu genetic mutation finfiah nan genetic test neih a ni.
• Urine test-ah hian zun chhunga organic acids tamna leh immune system cells (a bik takin neutrophils) a hniam tih hmuhchhuah a ni.

Engtin nge ka fa hian Barth syndrome test a mamawh tih ka hriat theih ang?

I fa hian a thanlenna a tlai tih chhinchhiahna leh heart muscle chak lohna (cardiomyopathy) nena inzawm symptoms a neih chuan, doctor-te chuan a chhan chiang tak an hmu thei lo a nih chuan, Barth syndrome test turin an rawt mai thei. Cardiomyopathy chhinchhiahna chu luak chhuak, thinlung thawk mumal lo ( arrhythmia ), leh thinlung ri danglam tak hriat ( heart murmur ) te a ni thei.

Barth syndrome enkawl dan tur chu engte nge ni?

Hei hi mi tam takin an harsatna lian ber a ni. Dik tak chuan Barth syndrome hi damdawi a la awm lo . Mahse, lungngai suh. Enkawlna tum ber chu harsatna awm thei ven leh enkawl hi a ni . Hei hian naupang nunphung chu a theih ang anga vawng reng turin a pui a ni. Naupang chuan enkawlna a mamawh thei a, chungte chu:

• Infection tan antibiotics hman tur a ni.
• Thisen var siam chhuahna tichaktu damdawi.
• Lung lam harsatna control nana damdawi. Entirnan , ACE inhibitor, diuretics, leh beta-blockers te hi a ni.
• Physical therapy leh occupational therapy hmanga taksa thanlenna kawnga harsatna awmte hlawhtling taka hmachhawn turin.
• Heart failure na tak a awm chuan heart transplant pawh a ngai mai thei.

A pawimawh ber chu heng enkawlna zawng zawng hi damdawi lam thurawn ang leh naupang tinte tana remchang anga pek hi a ni.

Barth syndrome enkawlna chungchangah hian eng thil dang nge hriat tur pawimawh?

I fain enkawlna a dawn dan enfiah nan checkup neih fo a pawimawh. I fa enkawlna mamawh chu hun kal zelah a danglam thei. Heng checkup neih fo hian harsatna a thlen hmain enkawlna thlak a awlsam phah a ni.

Heng test-ah hian immune system hnathawh dan enfiah nan thisen test (lab test) te pawh a tel a ni. Neutrophil level a hniam chuan hri kai loh nan antibiotics pek theih a ni.

Barth syndrome hi a veng thei ang em?

Barth syndrome hi genetic condition a ni a . Chumi awmzia chu rochun a ni tihna a ni. Chuvangin Barth syndrome nei naupang chuan an dam chhungin an nei ang.

Amaherawhchu, chhungkaw din i ngaihtuah a, fa dang i beisei a nih chuan, i chhungkuaa mi tu emaw chuan Barth syndrome (chhungkaw history) a nei a nih chuan, genetic testing hi a \angkai hle thei a ni. He test hian nang leh i kawppui hi TAZ gene mutation carrier in nih leh nih loh a hriattir thei che a ni. Carrier i nih chuan genetic counselor nen inhmukhawmin Barth syndrome nei fa neih theihna chance i sawi thei ang.

Barth syndrome vei te dam rei zawng chu engzat nge ni?

Tun hma chuan hetiang natna vei naupangte dam rei zawng hi a rei lo hle. Nausen laiin thinlung lam harsatna avangin an thi fo thin. Mahse, a hmaa hriat chhuah leh enkawl dan dik a nih chuan tunah chuan damlote chu an dam rei tawh hle . Science lama hmasawnna avang hian tunah chuan mi tam tak chu kum 40 hnuai lam thlengin an dam tawh a, a chang chuan a rei zawk pawh an dam tawh bawk. Nakin lawkah enkawlna thar hmuhchhuah a nih beiseina a awm bawk.

Barth syndrome neia nun hi eng ang nge ni?

Barth syndrome hian naupang thanlenna a nghawng thei a ni. Naupang tam tak chu te te an piang a, puitling an nih chuan an sei tawi thei bawk.

Muscle chak lohna leh harsatna dangte hian taksa thanlenna a tikhawtlai thei a ni. Entîr nân, an kekawrte, kea kal te, leh inthlauhna vawng reng tûrin harsatna an nei thei a. Tin, a bik takin taksa tihchak hnuah pawh hah awlsam takin an inhria thei bawk.

Mahse, Barth syndrome hian naupang finna a nghawng lo tlangpui . Mahse, Mathematics lama harsatna chinfelnaah emaw, thupui ṭhenkhat hriatthiamnaah emaw harsatna tê tê a awm thei a ni. Chuvangin chutiang naupangte chuan ngaihven bik leh tanpuina bik an mamawh a ni.

Engtin nge ka fa chu Barth syndrome vanga thinlung lama harsatna awmte enkawl turin ka puih theih ang?

Nunphung hrisel zawm hian naupang thinlunga lungkhamna chu eng emaw chen a tihziaawm thei a ni.

• Ei leh in hrisel tak pe rawh .
• Doctor-in a tih angin tui ei tlem rawh.
• Taksa tihchakna light tak takte fuih rawh . Mahse, chutiang thil tih zawh hnua chawlh hahdamna hun tam tak pek a pawimawh bawk. Kal rei vak lo emaw, inkhelh slow tak emaw ang chi thil hi ngaihtuah teh.

A tawp berah chuan take-home message

Barth Syndrome hi genetic disorder a ni a, thinlung, immune system, taksa ruh leh thil dang tam tak a nghawng a ni. Mipa naupang a nghawng ber. Nau piang lai emaw, a hnu rei vak lovah emaw hian natna lan chhuah dan a lang thei. Lung lam harsatna hian Barth Syndrome vei naupangte dam chhung a ti tawi thei a, mahse hei hi a ni tawh lo.

Hei hi damdawi chiang tak awm lo mah se, a hmaa hriatchhuah leh enkawl dan dik chuan harsatna awm theihna a ti tlem thei a, nunphung a ti sang thei bawk.

Chuvangin, i fain heng symptoms te hi a nei nia i rinhlelh chuan hlauthawng suh la, a rang thei ang bera doctor thiam tak hnen atangin thurawn la rawh. Second tin hi a hlut em avangin.

` Barth syndrome, genetic diseases, naupan lai natna, thinlung natna, immune system, muscle chak lohna, TAZ gene