I fa te hian heng symptoms te hi a nei em? Wiskott-Aldrich Syndrome chungchang hi han sawi ila.

I fa te chu a damlo reng em? A chang chuan vun lama harsatna eczema ang chi a nei em, a hliam tenau atang pawhin thisen a chhuak nasa em, a nih loh leh hmun tinah a hliam reng em? Chûngte chu thil pangngai angin lang mah se, a châng chuan he thil hnuaia awm, kan hriat tam loh, genetic condition hmuh tur awm lo tak a awm thei bawk. Chutiang dinhmun pakhat chu Wiskott-Aldrich Syndrome a ni. Hemi chungchang hi vawiinah hian chipchiar deuhin han sawi ila.

He Wiskott-Aldrich Syndrome hi eng nge ni?

A awlsam zawngin, hei hi genetic condition hmuh tur awm lo tak a ni . I fate taksa hriselna leh thisen chhunga cell thenkhat hnathawh dan a nghawng ber a ni. Hei hian vawi khatah symptom engemaw zat a thlen thei. Chung zingah chuan:

• Eczema: Vun natna a ni a, vun a vawt a, a hring bawk.
• Immune deficiency: Taksa chhunga natna dotu thisen var (white blood cells) te hian hna an thawk tha lo.
• Thisen chhuah leh hrual: A khawih tê tê pawh hian thisen a chhuah thei a, thisen zam a harsat avangin hmun hrang hrangah hliam a awm thei bawk.

Hetiang dinhmun hian a chang chuan nunna atana hlauhawm harsatna a thlen thei bawk. I dam chhung a ti tawi thei bawk. Mahse, tuna enkawlna hman mek hmang hian heng hlauhawmnate hi nasa takin a tlahniam thei a ni .

Hetiang dinhmun hi engtiang chiahin nge a awm?

Hei hi a takah chuan a tlem hle . Statistics-ah chuan mipa naupang maktaduai khat zinga pathum chauhvin Wiskott-Aldrich Syndrome an vei niin an chhut. America ang ramah pawh hian he natna vei hi mi 5,000 aia tlem lo an awm. It mostly affects boys , leh hmeichhe naupang tan pawh a tlem hle.

WAS nena inzawm natna chu eng nge ni?

I doctor chuan Wiskott-Aldrich Syndrome hi WAS nena inzawm natna tiin a sawi thei bawk. Hei hian WAS gene-a mutation avanga immune system tichhe thei dinhmun a kawk a ni. Entirnan, X-linked thrombocytopenia pawh hi WAS nena inzawm natna a ni.

Mahse, ``congenital neutropenia'' tih dinhmun hi ``WAS'' gene nena inzawm lo, genetic mutation danglam tak avanga lo awm a ni. Doctor-te chuan naupangin bacteria infection na tak a neih hnuah chauh he natna hi an hre thei a ni.

Wiskott-Aldrich Syndrome natna lan chhuah dan chu engte nge ni?

Hetiang dinhmun hi a lan chhuah dan tlangpui pathum a awm tih kan sawi tawh a. Tlemin chipchiar deuhin han thlir ila .

• Eczema: Hei hian vun a ti vawt hle a, a ti na bawk., a châng chuan a sen leh a hring thei bawk. Naupang tê thenkhatin eczema an neih ang mai a ni a, mahse hei hi a na deuh thei.

• Immune deficiency: Hetiang dinhmun hi kan taksa hriselna tura puitu thisen var (white blood cells) te hnathawh that loh vang a ni. Hei hian taksain natna a do theihna a ti tlem a ni . A chang chuan immune system hian a taksa ngei pawh a bei tan thei bawk. Hei hian natna hrik a kai fo thei a, leh natna chi hrang hrang, rheumatoid arthritis, vasculitis (thisen kalna kawng a na), thisen tlakchham (thisen tlem), leukemia (thisen cancer chi khat), emaw lymphoma (Lymph nodes cancer chi khat) te a thlen thei bawk.

• Thisen chhuahna lama harsatna (Microthrombocytopenia): Hei hi thisen zam tura puitu platelets zat a tlahniam emaw, a tlem lutuk emaw a ni . Dik tak chuan heng cell te hi thisen chhuah tihtawp nana puitu an ni. Chuvangin hengte hi a hniam chuan cut tlemte pawh hian thisen chhuahna a thlen thei a, chu chu a tawp lo. Hei hian bruising , hnar thisen chhuak, a chang chuan thisen chhuak, vun hnuaia thisen chhuak (purpura), leh vunah hian red dots te te (petechiae) a thlen thei.

Heng symptoms pakhat emaw pahnih emaw i neih vang mai maia he natna hi hlau suh. Mahse heng thilte hi a la awm reng a nih chuan Doctor pan a tha ber.

Nausen Wiskott-Aldrich syndrome na ber (loss of function) nei te pawhin a natna lan chhuah dan te chu:

• Eczema natna a awm
• Immune tlakchhamna
• Thrush na tak a awm
• Pneumonia natna (Pneumonia) a ni

A châng chuan, gain-of-function WAS gene avanga congenital neutropenia a awm chuan bacteria infection na tak emaw myelodysplastic syndrome (bone marrow disease) emaw a awm thei bawk.

Hei hi eng nge a chhan?

Wiskott-Aldrich Syndrome thlentu ber chu WAS gene-a genetic change, a nih loh leh mutation a ni . He WAS gene hi kan X chromosome kut tawi takah a awm a. He gene hian Wiskott-Aldrich syndrome protein a siam chhuak a. He protein hi kan thisen cell zawng zawngah a awm vek a.

He Wiskott-Aldrich syndrome protein hian kan cell te chu ``adhesion'' hmangin cell leh tissue dangte nena inzawm tlat turin a pui a ni.He adhesion hi a pawimawh hle a, a chhan chu kan immune system hian taksa chhunga lut bacteria leh virus ang chi hmelma te a hneh theih nan a pui a ni.

Chuvangin, i `WAS` gene-ah hian genetic mutation i neih chuan i thisen cell te hian cell dang leh tissue te chu a nghet thei dawn lo. Hei hian immune system hian a hna a thawk tha thei lo ang. Chu chu Wiskott-Aldrich Syndrome symptoms thlentu a ni.

Congenital neutropenia-ah chuan genetic mutation hian cell chi hnih, neutrophils leh monocytes te che vel chu a titawp a, immune system hian heng cells te hi infection do turin a chhuah tir thei lo.

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

Ni e, hei hi rochun theih dinhmun a ni. ``X-linked recessive`` pattern hmanga inherit a ni. Chumi awmzia chu naupang chuan nu leh pa pahnih hnen atangin genetic change chu a dawng tur a ni tihna a ni.

Kan sex chromosomes hi kan nu leh pate hnen atangin kan rochun thin. Mipa hian `X` chromosome pakhat leh `Y` chromosome pakhat an nei a. Hmeichhia hian `X` chromosome pahnih an nei a. He natna hian mipa naupang a nghawng nasa zawk a, a chhan chu he genetic mutation hian an chromosome awmchhun `X` hnathawh a nghawng a ni.

He natna hian chhungkaw kalphung nei mahse, damlo zawng zawng zinga 30% aia tam chuan ``de novo'' , chu chu naupai laiin genetic mutation thar lo awm vang a ni tihna a ni.

Engtin nge hei hi i hriat chian?

Doctor chuan nausen emaw, naupan lai emaw hian Wiskott-Aldrich Syndrome a vei tih a hmuchhuak tlangpui . Naupang chu endik a ni a, a tul anga test neih a ni. Hetiang dinhmun chhinchhiahna hmasa ber chu ek chhunga thisen chhuak, thisen chhuak danglam tak, emaw, hliam tuar emaw a ni thei. Doctor chuan a natna hriat chian nan a hnuaia test te hi a ti thei ang:

• Thisen chhiar kim (CBC) 1.1.
• Genetic thisen test a ni
• Peripheral thisen hmanga hnawih

Hei hi nausen laia hriat a nih loh chuan naupan laiah a natna lan chhuah dan a langsar zual thin.

I fain taksa hriselna chak lohna chhinchhiahna, natna kai fo ang chi a lan chuan, naupan laiin test dang neih belh a ngai mai thei. Hei hi a chhan chu naupang taksa hian bacteria leh virus te a do tha thei lo mai thei a, vaccine thenkhatah pawh a chhang tha lo thei bawk.

Doctor chuan thisen test a ti thei a, vaccine i pek hnuah i fa taksain antibody a siam chhuak em tih a enfiah thei a ni. Heng antibodies te hi natna khirh tak laka invenna atana immune response siamtu an ni. Hei bakah hian i fa thisen var, a bik takin T-cell leh immunoglobulins (antibody siamna atana puitu) te enfiah nan thisen test dang neih leh a ni ang.

Hei hi eng enkawlna nge ni?

Wiskott-Aldrich Syndrome hi a hnuaia mi ang hian enkawl theih a ni.

• Infection awmte enkawlAntibiotics emaw antiviral damdawi emaw.
• Antibody (immunoglobulin) infusion pek a ni a, chu chuan antibody a tlakchham tawhte chu a siam tha leh thin.
• Thisen chhuahna lama harsatna awm thei tur thisen-platelet pek .
• Eczema hi topical medications leh over-the-counter (OTC) moisturizers hmanga enkawl theih a ni .

I fain natna emaw, hri kai emaw a neih chuan, chu chu a na hle thei a, nunna pawh a tichhe thei a ni . I fa nunna humhim nan heng enkawlnate hi i lo enchhin thei bawk ang:

• Stem cell transplant : Hei hi tuna solution awm tha ber a ni mai thei.
• Gene therapy (hei hi research stage-ah a la awm).

I fa doctor chuan heng enkawlna kawng hrang hrangte hi a sawipui ang che a, i fate tana a tha ber tur leh an nunphung tihchangtlun nan enkawlna a ruahman ang.

Ka fa hian hetiang dinhmun hi a nei a nih chuan eng nge ka beisei ang?

I fa hian Wiskott-Aldrich Syndrome a vei a nih chuan, i doctor chuan an immune system a thawk tha lo vanga nunna atana hlauhawm harsatna lo thleng thei laka invenna tur enkawlna ruahmanna a siam ang. Diagnosis a nih hnuah genetic counseling atan refer i ni thei bawk . Hei hian nang leh i chhungte chu natna chungchang leh enkawlna kawng awmte hriat belh turin a pui thei a ni.

Naupang natna tlanglawn chickenpox ang chi pawh hian i fa tan hriselna lama harsatna lian tak a thlen thei a ni. A kum rualpui naupang dangte angin a immune system a chak loh avangin doctor pan nghal a ngai mai thei. Natna leh hri kai enkawl hmasak hian result tha zawk i hmu thei a ni.

I doctor chuan i fa chu virus nung vaccine (flu shot ang chi) pe lo turin a hrilh mai thei che a, a chhan chu he virus chi nung hian i fa a ti na thei a ni. I fa hian vaccine engemaw zat dawng mahse, chutiang chuan a hlawhtling lo mai thei. I fa chu virus vangin a damlo a nih chuan antiviral damdawi hmanga enkawl hmasak hian a thawk tha tlangpui. Mahse natna tlanglawn tak tak pawhin harsatna a thlen thei.

I fa chu a dam chhungin cancer screening neih fo a ngai mai thei a, a chhan chu cancer chi hrang hrang, a bik takin leukemia emaw lymphoma emaw a vei theihna a sang hle a ni.

Hei hi damdawi famkim a awm em?

Ni e, stem cell transplant (bone marrow transplant an ti bawk) hian Wiskott-Aldrich Syndrome a tidam thei a ni.Heng transplant chi hrang hrang hian taksa thisen siamtu stem cells te chu paih chhuakin stem cell hrisel tak takin a thlak a ni. Wiskott-Aldrich Syndrome hian thisen cell pangngai lo a siam avangin, stem cell transplant hmangin chu cell chu cell hrisel, hnathawk thei hmangin a thlak thei a ni.

Wiskott-Aldrich Syndrome hian thihna a thlen thei em?

Wiskott-Aldrich Syndrome hian thihna a thlen thei . Tun hmain stem cell transplant nei lo naupangte hi kum 15 vel an dam theih thu an lo sawi tawh bawk. Infection avanga symptoms, naupang thluaka thisen chhuak, infection na tak emaw cancer emaw a awm chuan nunna atana hlauhawm a ni thei a, thihna pawh a thleng thuai thei bawk.

Mahse, medical science a lo thang chho zel a, tuna enkawlna kawng hrang hrang hman mekte hian naupang dam rei zawng zawng a tichangtlung thei ta a ni.

Hei hi ven theih a ni em?

Hei hi genetic condition a nih avangin ven theih a ni lo . Fa neih i tum a, nau neih theihna tur i hriat duh chuan, i doctor nen genetic testing chungchang sawipui rawh .

Engtik hunah nge ka fa doctor ka hmuh ang?

I fa chu a damlo a, Wiskott-Aldrich Syndrome a vei tih hmuhchhuah a nih chuan an doctor hnenah zawh nghal rawh . An taksa chakna (immune system) a thawk tha lo a nih avangin natna hrik an kai fo thei a ni. I doctor chuan natna emaw, hri kai emaw chu a enkawl thei a, nunna atana hlauhawm harsatna pawh a veng thei bawk.

I fain a hnuaia mite hi a neih chuan doctor hmu rawh:

• Thisen chhuahna (Bloody diarrhea) .
• Hnar thisen chhuak fo thin
• Hmun lian tak takah chuan hliam a awm
• An vunah a inthlak danglam thin
• Infection lo awm leh thin (e.g. chickenpox emaw thrush na tak, bacteria infection) .

Doctor hnenah eng zawhna nge ka zawh ang?

Doctor hnenah hetiang zawhna hi i zawt thei ang:

• Ka fa dam rei zawng chu engzat nge ni ang?
• Ka fate eczema enkawlna atan eng product nge ka hman theih ang?
• I enkawl dan tur i rawt te hian side effect a nei em?
• Ka fa hi stem cell transplant atan a tha em?

Wiskott-Aldrich Syndrome leh Ataxia-Telangiectasia hi eng nge an danglamna?

Wiskott-Aldrich Syndrome leh Ataxia-Telangiectasia te hi genetic condition an ni a, immune system hnathawh a tichhe thei a ni.. Mahse, ataxia-telangiectasia hi ATM gene-a mutation awm vang a ni. I movement leh coordination a nghawng a ni. Tin, i vunah thisen kalna kawng zig-zag takin a lang bawk.

I hriat reng tur pawimawh ber berte

I fa hian a dam chhung zawnga nghawng thei tur genetic condition hmuh tur awm lo tak a nei tih hriat chu a buaithlak thei hle. Thil mak tak a ni thei. Mahse, lungngai suh. I fa doctor chuan a dinhmun chungchang leh in lama i fa i tanpui theih dan tur a hrilh belh ang che. I fate taksa chakna (immune system) hian hna a thawk tha lo mai thei a, chuvangin an damlo fo mai thei.

I fa enkawl lai hian mahni in enkawl a pawimawh. Nu leh pa leh chhungkaw tam tak chuan rilru lam hriselna chungchanga thurawn petu nena inbiaknaah thlamuanna leh thlawpna nasa tak an hmu thin .

Tuna enkawlna lama hmasawnna avang hian he natna vei naupangte hian nun famkim leh hlim takin an nung thei ta a ni. Chuvangin chak takin awm rawh.

` Wiskott-Aldrich syndrome, genetic diseases, immune system, eczema, thisen chhuah, stem cell transplant, naupang hriselna