I fa te hian heng symptoms te hi a nei em? Pearson Syndrome hi i hrechiang ang u

I naupang tê chu a damlo reng em? A lethargic hmel em? A chang chuan awlsam takin hliam a tuar thin em? Hengte hi thil pangngai angin lang mah se, a chang chuan he thila kan hriat loh chhan lian tak a awm thei. Vawiin hian hetiang damdawi lama harsatna awm lo, mahse na tak tak chungchang kan sawi dawn a ni. Chu chu Pearson Syndrome an tih natna a ni.

Pearson Syndrome hi eng nge ni?

A awlsam zawngin sawi ila, Pearson Syndrome hi mitochondrial natna hlauhawm tak leh na tak a ni. Tunah chuan heng mitochondria te hi eng nge an nih i ngaihtuah mai thei. Kan taksaa cell tin hi factory tenau tak ang mai niin han ngaihtuah teh. Heng factory te hian hnathawh tur hian chakna an mamawh a ni. Chu chakna siamtu pengte chu power plant te tak te ang bawkin mitochondria an ti a. Heng mitochondria te hian kan ei tur chu chaknaah a chantir a, kan taksa peng leh system tin, thin, thinlung leh thluak ang chi te hnathawh theihna tura mamawh chakna pe tu chu a ni.

Pearson Syndrome vei naupangah hian heng mitochondria-a genetic material, chu chu mitochondrial DNA-ah hian inthlak danglamna, a nih loh leh mutations engemaw zat a awm a ni. Hei hian cell te hian chakna tha tak tak an siam chhuak thei lo. Hei hian naupang taksa peng pawimawh tak tak, ruhro, pancreas, leh thin (liver) te a nghawng ber a ni.

Hetiang dinhmun hi nausen lai atanga hmuhchhuah a ni tlangpui. Naupang thisenah harsatna chi hrang hrang a thlen thei a ni. Entir nan:

• Thisen sen (red blood cells) tlahniam, chu chu thisen tlakchhamna (anemia) tihna a ni.
• Thisen var tlahniam, chu chu neutropenia .
• Platelet (thisen tichhe thei cell) tlahniam, thrombocytopenia tia hriat .

He natna hi Pearson bone marrow pancreatic syndrome an ti bawk.

Heng symptoms te hi engte nge ni?

Naupang Pearson Syndrome vei chuan symptom hrang hrang a nei thei. Naupang zawng zawng hian symptom zawng zawng an nei vek dawn lo. Mahse, a lan chhuah dan tlangpui thenkhat a awm.

A hmasa ber hmuh theih symptoms

• Bruising awlsam: Bump te tak te pawh hian bruise lian tak emaw, bruise emaw a thlen thei.
• Chauh leh chak lohna: Naupang chu a muhil reng thei a, inkhelh theihna chakna nei lo ang maiin a awm thei.
• Luak chhuak fo (diarrhea): Kawchhung hi ni eng emaw zat a awm a, tihtawp a harsa hle.
• Natna nei fo: Thil tenau tak tak atanga natna vei, khawsik leh khawsik nei fo.
• Growth failure: Kum inang naupang dang angin a sang lo emaw, a thau chak lo emaw. Chaw ei lai pawha taksa rihna tihpun loh ang mai a ni.
• Pale skin: Taksaah thisen a awm loh avangin vun rawng a inthlak a, a sen deuh thin.
• Muscle chak lohna: Ke ruhte chu chak lo leh chak lo anga inhria.
• Luak chhuak: Luak chhuak fo, i ei tur tihhniam theih loh.
• Vun sen leh mit var (jaundice): He symptom hi liver function a nghawng chuan a awm thei.

Hun kal zelah harsatna dang lo awm thei

He natna nena i nunpui hian hun kal zelah harsatna tam zawk a lo awm thei a ni. Chung zinga ṭhenkhat chu:

• Diabetes: Zunthlum hi pancreas a chhiat avangin a lo awm thei a.
• Hriatna hloh: Hriatna hloh zawi zawiin a awm thei.
• Kearns-Sayre syndrome: Hei hi mitochondrial natna a ni bawk. Nervous system leh thinlung a nghawng a ni.
• Movement disorders emaw seizures: Chung zingah chuan ke ruhte innghahna leh thunun loha inhnim hrual (jerking) te pawh a tel thei.
• Mit lama harsatna: Mit hmul tlak, retinitis pigmentosa, leh mitdel ang chi natna a awm thei.

Engvangin nge Pearson Syndrome hi a lo awm?

Pearson Syndrome hi mitochondrial DNA (mtDNA) a chhiatna avanga lo awm a ni tih kan sawi tawh a . Mitochondria hi kan taksaa cell zawng zawng deuhthaw chakna siamtu a ni tih hre reng ang che. Chuvangin, heng mitochondria-a chhiatna a awm chuan cell-te hian an mamawh chakna an hmu lo. Tichuan, chu cell-te chu a chhe emaw, a hun hmain an thi emaw a ni.

Hetiang hian han ngaihtuah teh: Mitochondria hi motor engine ang a ni. Engine-ah harsatna a awm chuan car a tlan lo ang. Cell-ah pawh chutiang bawk chu a thleng thin.

Scientist-te chuan heng mitochondrial DNA (mtDNA) chhiatna hi engvangin nge a lo awm tih leh, heng chhiatnate hian engtin tak nge heng natna lan chhuahna hi a thlen tih hi chiang takin an la hrethiam lo.

Hei hi thlah kal zel atanga lo chhuak thil a ni em?

A tam zawkah chuan Pearson Syndrome hi chhan hriat lohvin a awm thin. Chu chu random genetic mutation avanga lo awm a ni tihna a ni. Mahse, very rarely , rochun theih a ni a, chu chu nu leh pa pakhat atanga nu leh pa dang hnena kai theih tihna a ni. Mahse chutiang thil chu a tlem hle a, hriat chian a la ni lo.

Doctor-te hian engtin nge hei hi an hmuh?

I doctor chuan i fain Pearson Syndrome a nei nia a rinhlelh chuan test thenkhat a order ang. Chung zinga ṭhenkhat chu:

• Thisen test: Thisen chhunga thisen sen, thisen var leh platelet awm zat enfiah thin ang che. Tin, thin leh kal hnathawh dan pawh enfiah bawk ang che.
• Bone marrow biopsy hmanga lak chhuah: 1.1.Hei hian hip emaw hmun remchang dang emaw atanga ruhro tlemte chu light anesthetic hmanga lak a, microscope hmanga enfiah a huam a ni. Hei hian thisen cell-a thil dik lo awmte a hmuchhuak thei a, chu chu cell chhunga tui khata khat bawm emaw, thisen sen chhunga iron awm emaw a ni.
• Stool test: Hei hian pancreas hnathawh dan hriat theihna a siam a ni.
• Urinalysis/urine test: Kal hnathawh leh harsatna dang a enfiah thin.

Heng test result, a bik takin bone marrow biopsy result hi pathologist-in uluk takin a zirchiang a, a natna hi a dik tih finfiah a ni.

Pearson Syndrome hi eng enkawlna nge ni?

Vanduaithlak takin Pearson Syndrome hi damdawi a la awm lo. Tuna enkawlna hman mekte hian natna lan chhuah dan tihtlem leh naupang chu a nuam thei ang bera siam tum a ni. Chung zingah chuan:

• Thisen pek: Thisen hi thisen hi thisen tlakchhamna (anemia) ang chi natna enkawlna atan pek a ni.
• Physical therapy leh occupational therapy: Hengte hi naupang taksa ruh tichak tur leh nitin hna thawk tura pui turin a pawimawh hle.
• Stem cell transplant: Hetiang enkawlna hi naupang thenkhat tan chuan a hlawhtling thei a, mahse enkawlna buaithlak tak a ni.
• Supplements: Supplements coenzyme Q10, L-carnitine, leh vitamin chi hrang hrang te hian cell te chakna siam turin a pui thin.
• Infection enkawl dan: Natna a awm fo avangin bacteria infection tan antibiotics pek thin a ni a, Viral infection tan antivirals pek thin a ni.

Naupang nausen hun kal tawha dam tawhte chu an thin, kal, thinlung leh pancreas chungchangah specialist hrang hrangin an enfiah a ngai a, heng taksa peng hrang hrangte hi hun kal zelah a nghawng thei bawk a ni.

Hetiang natna vei te hi eng chen nge an dam theih ang?

Hei hi sawi pawi tak a ni. Pearson Syndrome vei naupang tam zawk, a chanve vel chu nausen lai emaw, naupan lai emaw-ah an thi thin. Puitling thlenga dam khawchhuak tlemte chauh an awm. He natna hian a tawpah chuan lactic acidosis (thisen chhunga lactic acid awmkhawm) na tak leh taksa peng hrang hrang a tichhe thei a ni.

He thu i hriat hian i lungngai hle ang tih ka hria a, i hlauthawng hle ang a, i lungawi lo hle bawk ang tih ka hria. Hei hi tuar harsa tak a ni tak zet a ni.

Hetiang dinhmun khirh tak hi engtin nge i hmachhawn?

I fain Pearson Syndrome a vei tih i hriat chuan chhungkaw pum tan chuan tuar theih loh khawpa lungngaihna leh hrehawmna a ni thei. Chu chu thil awmdan pangngai chauh a ni.

• Nangmah chauh i ni lo: A hmasa berah chuan he thil hi nangmah chauhin i tawng lo tih hre reng ang che. Doctor, nurse, chhungte leh ṭhiante, ṭanpui thei che leh hrethiam thei chein an hual vel che a ni.
• Support group: Natna hlauhawm tak nei naupang nu leh pate siam support group a awm a. Pakhat zawm hian mahni chauha awm lo turin a pui thei che a ni. Mi dangte’n an thil tawn an sawi hian thlamuanna leh ngaihtuahna engemaw zat i nei thei bawk.
• Zir rawh, mahse...: Mitochondria leh Pearson Syndrome chungchang midangte zirtir hi i mawhphurhna a ni lo. Hemi chungchang hi hmun hrang hrangah hriat tur tam tak a awm a.
• Ṭanpuina dîl rawh: I chhehvêla mite chuan an ṭanpui duh che a, mahse engtin nge an hre lo mai thei. I mamawh chu chiang takin sawi rawh. I fate nen hian mahni chauha hun i mamawh mai thei a, a nih loh leh nangmah chauhva hun i mamawh mai thei bawk. Ṭanpuina dîl chu zak suh, dawr kal te, in lama hna engemaw thawh te, nau enkawl te.
• Emotion hmachhawn dan: I fain nunna atana hlauhawm natna a nei tih i hriat avanga lo awm rilru natna chu tuar harsa a ni thei. He natna hi a tlem avangin mahni chauha i inhriat lehzual mai thei. A tirah chuan hetiang support group-a kal a, thu hriat tur zawng hi thil tul lo angin a lang thei. Fate nena hun hman tam duh hi thil pangngai tak a ni. Mahse, chutiang ṭanpuina i hmuh theihna hmun a awm tih hre reng ang che. Chutiang ṭanpuina chu i lungngaihna te, i hrehawmna te, leh tuar chhuak thei tura chakna i hmuhna kawngah a hlu hle a ni.

"Nangmah chauh i ni lo" tih hi hre reng ang che. Doctor, chhungte, ṭhiante leh ṭanpuitu pawl dangte kaltlangin i mamawh chakna leh kaihhruaina i hmu thei a ni.

A tawp berah chuan hei hi hre reng ang che.

Pearson Syndrome hi a awm lo hle a, mahse a na hle. Kan cell-te chakna petu powerhouse te tak te mitochondria-a harsatna awm vang a ni. Hei hian taksa peng pawimawh tak tak, naupang ruhro leh pancreas te a nghawng thei a ni.

• A lan chhuah dan fimkhur rawh: I fain a hah reng, a sen hring, a hliam awlsam, a nih loh leh natna a neih fo ang chi natna a neih chuan damdawi lam thurawn zawng rawh.
• Diagnosis dik a pawimawh: Hetiang natna hmuh tur awm lo hriat chian nan hian test bik neih a ngai a.
• Enkawlna hian natna lan chhuah dan thunun tum a ni: Damdawi kim awm lo mah se, natna lanchhuahna tihziaawmna tur leh naupang tan hahdamna pe thei tur enkawlna a awm.
• Psychological support hi a pawimawh hle: Chutiang harsatna tawk chhungkua tan chuan psychological support hi a pawimawh hle. Anmahni chauh ni lo anga inhriat tir rawh.

He thu hian he natna hmuh tur awm lo tak hi hriatthiamna engemaw chen i neih theih ka beisei. Hemi chungchanga zawhna dang i neih chuan i doctor nen inbiakna neih hreh suh.