I fa hian he natna hmuh tur awm lo tak hi a nei em? Shwachman-Diamond syndrome (SDS) chungchang hi i zir dawn a ni.

I fa te chu a damlo reng em? I taksa rihna a tipung lo em ni? A nih loh leh an ruh-ah danglamna i hmu em? A châng chuan, hei hi Shwachman-Diamond syndrome (SDS) vang pawh a ni thei a, hei hi naupangte natna vei, genetic condition hmuh tur awm lo tak a ni. Hemi chungchang hi i hriatthiam theih tur awlsam takin sawi ila.

Shwachman-Diamond syndrome (SDS) hi eng nge ni?

A awlsam zawngin sawi ila, Shwachman-Diamond syndrome (SDS) hi genetic disorder hmuh tur awm lo tak a ni a, naupangte zingah hian pancreas, bone marrow leh ruh te a nghawng ber a ni. Naupang kum khat a tlin hmaa hriat chhuah a ni tlangpui. Mahse, a chang chuan tleirawl puitlingah hmuhchhuah theih a ni.

SDS hi natna lan chhuah dan chi hrang hrang a thlen theih avangin hriatchhuah leh enkawl harsa tak a ni. Naupang chuan heng symptoms pakhat, engemaw zat, a nih loh leh a zawng zawng hi a nei thei a ni. Entirnan, naupang pakhat hian pancreas leh ruh lamah harsatna a nei thei a, naupang dang erawh chuan ruhro leh ruh lamah chauh harsatna a nei thei thung.

Natna hriat lawk loh tak a ni bawk . Naupangte natna lan chhuah dan chu a na lo emaw, a na emaw a ni thei. Heng symptoms te hi hun kal zelah a danglam thei a ni. SDS vei naupangte hian damdawi lama harsatna chi hrang hrang an neih avângin, naupang tam tak chuan specialist team ṭanpuina an mamawh a ni . Hetiang natna nei naupangte hian dam chhung zawng damdawi lam enkawlna an mamawh dawn a, mahse a tlangpuiin nun pangngaiin an hmang thei a ni. Mahse, naupang leh puitling tleirawl thenkhat chuan nunna atana hlauhawm thisen cancer (Acute Myeloid Leukemia) emaw, thisen lama natna khirh tak (Myelodysplasia) emaw an nei thei a ni.

Hei hi thil awm dan tlangpui a ni em?

Chiang taka sawi a har khawp mai. Doctor-te chuan Shwachman-Diamond syndrome hi thil awm lo takah an ngai a. Mahse naupang engzat nge he natna hi nei tih hi rough estimate chauh a awm. Mi thenkhat chuan nau piang 75,000 zinga pakhatah he natna hi an nei niin an sawi . Hetianga rough estimate siam chhan hi naupangte hian symptoms na lo tak tak emaw, na tak tak emaw an nei thei a, naupang zawng zawng hian symptoms set inang an nei vek lo va, chutiang dinhmun hriat theihna tur test pakhat, definitive test a awm lo.

Puitling pawhin Shwachman-Diamond syndrome (SDS) an vei em?

Naupan laia damdawi lama harsatna thenkhat ang lo takin Shwachman-Diamond syndrome hi naupang an lo puitlin chuan a reh lo. Hun kal zelah natna lan chhuah dan leh enkawl dan chu a danglam thei a, mahse hetiang natna nei naupangte hian dam chhung zawng damdawi lam enkawlna an mamawh dawn a ni .

Hetiang dinhmun hian ka fa taksa hi engtin nge a nghawng?

Shwachman-Diamond syndrome hian damdawi lama harsatna hrang hrang a thlen thei a, mahse a nghawng lian ber pathum a awm a, chungte chu:

1. Exocrine pancreatic insufficiency a awm loh chuan:I fa pancreas hi a pum hnung lama awm organ a ni. Cell chi khat acinar cells an tih a awm a. Heng cell te hian ei tur digest thei tur enzyme an siam chhuak thin. Heng enzyme te hian eitur chhunga nutrient leh thau awmte chu taksain a hip lut thei turin an ti chhe vek a ni. SDS vei naupangteah chuan pancreas hian heng enzyme te hi a siam chhuak tlem hle. Chuvang chuan naupangin a mamawh ei tur a hmu lo.

2. Bone marrow function tihchhiat: I fate bone marrow hian thisen sen, thisen var, platelet te a siam chhuak thin. SDS vei naupangteah chuan ruhro (bone marrow) hian heng cell te hi a tlangpui aia tlem zawkin a siam chhuak thin. A bîk takin, thisen var chi khat, neutrophils tih chu a siam chhuak tlem hle. Neutrophils hi a tlangpuiin taksa hi bacteria ang chi invader laka taksa venghimtu cell a ni. SDS vei naupang thenkhat chuan heng bacteria invader te do turin neutrophils an nei tlem hle. Hetiang dinhmun hi neutropenia an ti a . Neutropenia vei naupangte hian bacteria infection, pneumonia, middle ear infection, emaw vun infection te an nei fo thin.

3. Skeletal abnormalities: SDS vei naupangte hian scoliosis, kut leh ke ruh tawi fel lo (chondrodysplasia), emaw, rilru pangngai lo taka tawi, bell ang maia awm (thoracic dystrophy) ang chi natna an nei thei.

Shwachman-Diamond syndrome (SDS) hian eng harsatna nge a thlen?

Hetiang natna vei te hian thisen cell pangngai lo (`(myelodysplasia)`) an neih theihna a sang hle. Chungte chu a hnuah thisen cancer `(acute myeloid leukemia)` tih ah an lo chang thei a ni.

Shwachman-Diamond syndrome (SDS) natna lan chhuah dan chu engte nge ni?

Hetiang dinhmun hian naupang taksa peng engemaw zat a nghawng thei a ni. Mahse, a lan chhuah tam ber chu pancreas, bone marrow, leh skeletal system te a ni. Mi thenkhat chuan an pian tirh te, nausen lai te, an naupan lai te hian natna lanchhuahna an nei thei a. Mi tlemte chuan puitling tleirawl laiah symptoms an nei thei.

A lan chhuah dan tlangpui:

• Hlawhtling lo: Hei hian i naute chu a thau lo tihna a ni. SDS-ah chuan hei hi chaw ei \ha lo vang a ni thei.
• Chauhna: Naute chau tawh chu a thinrim thei a, a chau thei bawk.
• Khawpui lian, hriak nei, rimchhia: I naute ek chu a lian lo hle thei a, a lan danah chuan hriak a nei thei a, rimchhia pawh a nei thei bawk.
• Infection na tak tak lo lang leh thin: Bacteria infection a awm chhunzawm zel chuan SDS symptom a ni thei.
• Kut leh ke ruh a danglamna hmuh theih: Naute kut leh ke hi an taksa peng nena khaikhin chuan a tawi zawk thei.

Eng thilin nge Shwachman-Diamond syndrome (SDS) hi a thlen?

SDS vei naupang 90% vel chuan `SBDS` gene ah mutation an nei a . Zirna hrang hrangah chuan he mutation hi nu leh pa pahnih (`(autosomal recessive manner)`) emaw nu leh pa pakhat atanga rochun theih a ni a, mutation thar a lo awm tih hmuhchhuah a ni. Zirchiangtute chuan `SBDS` gene-a mutations hian SDS a thlen chhan chiang takin an la hre lo.

Engtin nge doctor-te hian he natna hi an hriat theih?

Doctor-te chuan i fa hriselna zawng zawng tehna atan taksa enfiahna an nei ang. I fa san zawng leh rih zawng an teh ang a, an kum rualpui naupang dangte than dan nen an khaikhin ang. A hnuaia test te hi an ti thei bawk:

• Complete blood count (CBC) with differential: Hei hian naupang thisen cell, a bik takin thisen var zawng zawng a chhiar a ni.
• Pancreas function test: Doctor-te chuan i fate bawlhhlawh sample an enfiah emaw, computed tomography (CT) scan ang chi imaging test emaw an ti thei bawk.
• Vitamin level enfiah nan thisen test neih thin a ni.
• X-ray: Ruh lama harsatna a awm leh awm loh enfiah nan X-ray lak theih a ni a, a bik takin naupang hip emaw keah emaw a awm thei.
• Genetic testing: SDS thlentu genetic mutations hriat theih nan doctor-te chuan naupang thisen, vun, sam, tissue sample te chu an zirchiang a, naupangin he natna hi a nei em tih an finfiah thin.

He natna hi engtin nge enkawl a nih?

Shwachman-Diamond syndrome hian i fate chu kawng tam takin a nghawng thei a ni. Entirnan, naupang pakhatin pancreas lama harsatna a neih avangin chaw a ei thei lo mai thei a, mahse an ruhro chu a thawk dan pangngaiin a thawk thei a ni. Symptoms hi a na lo emaw, na tak emaw pawh a ni thei. Doctor-te chuan heng inthlak danglamna hi an natna nasat dan a zirin an enkawl thin.

Pancreatic exocrine insufficiency tan chuan:

Doctor-te chuan i fa taksain nutrient leh thau a lakluh theih nan oral pancreatic enzyme emaw, thau-a inthiar theih vitamin emaw a pe thei a ni.

Bone marrow failure tan chuan:

Hetiang dinhmun hian naupang ruhro a nghawng avangin ruhro hian neutrophils a siam tling lo. Naupangin harsatna lian tham a neih loh chuan doctor-te chuan ruhro (bone marrow disorder) hi an enkawl ngai lo tlangpui. Enkawlna atan hian:

• Thisen pek: Thisen cell level a tisang.
• Platelet transfusion: Thisen chhuahna lama harsatna awm thei tura pui turin platelet level a tisang.
• Granulocyte-colony stimulating factor (G-CSF) : He enkawlna hian naupang thisen var (white blood cells)-a neutrophils awm zat a tipung a ni.
• Stem cell transplantation: SDS vei thenkhat chuan thisen cancer emaw thisen lama harsatna lian tak emaw an nei thin. Doctor-te chuan heng natnate hi stem cell transplantation hmangin an enkawl thei a ni.

Skeletal system dik lo nei tan chuan:

Doctor-te chuan SDS vanga ruh lama harsatna awmte chu an enfiah fo thin. Naupang thenkhat chuan harsatna lian tham an neih chuan ruh lam zai an ngai mai thei.

Hetiang dinhmun enkawltu medical specialist te hi tute nge ni?

Shwachman-Diamond syndrome enkawl tur hian specialist team mamawh a ni. I fa enkawlna team-ah hian:

• Naupang enkawltu: Heng doctor-te hian nau piang thar, naupang leh puitling tleirawlte an enkawl a. I fa naupang enkawltu doctor chuan SDS a awm leh awm loh hriat chian nan test neih a rawt mai thei.
• Endocrinologist: Heng mite hi endocrine system lama thiamna nei, naupang thanlenna tichhe thei mi an ni.
• Hematologists: Heng mite hi thisen natna lama specialist te an ni a, naupang thisen cell tichhe thei natna te pawh a tel.
• Gastroenterologist: Heng doctor te hian i fa chaw ei kawng lama harsatna an neihte chu an enkawl thei a ni.
• Geneticists: Shwachman-Diamond syndrome hi genetic condition a ni a. Heng doctor te, a nih loh leh genetic counselor te hian i fa dinhmun finfiah nan genetic testing an ruahman ang. Nang leh i fa thisen chhungte thenkhat pawh an test thei bawk.
• Orthopaedic specialist: I fain ruh lama harsatna a neih a, operation ngai a nih chuan orthopaedic specialist i pan a ngai dawn a ni.

Hei hi ka veng thei ang em?

Shwachman-Diamond syndrome hi rochun natna a ni a . He natna hi i nei tih i hriat chuan geneticist nena inbiakna neih a tha. Hetiang natna vei naupang i neih chuan i fate hian SDS thlentu gene mutation an nei em tih hriat tumin genetic test neih i ngaihtuah mai thei.

Shwachman-Diamond syndrome (SDS) hi a dam kim thei ang em?

Doctor ten he natna hi an tidam kim thei lo. I fa hian he natna hi a neih chuan a dam chhung zawng damdawi lam enkawlna a mamawh ang.

Shwachman-Diamond syndrome (SDS) natna vei hi eng ang nge ni?

Kawng khatah chuan Shwachman-Diamond syndrome hi natna rei tak a ni . I fa hian he natna hi a neih chuan test leh screening neih fo a ngai dawn a ni.

• Complete blood count (CBC) leh white blood cell count, platelet count: Doctor ten thla thum atanga thla ruk danah heng test te hi an ti thei a ni.
• Bone marrow examination: Hematologist te hian kum khatah vawi khat atanga kum thum danah vawi khat thlengin heng test te hi an ti thei a ni.
• Thisen a vitamin awm leh awm loh test: Doctor ten naupang thisena vitamin awm zat an teh thei a, pancreatic enzyme therapy hian hna a thawk em tih an en thei.
• Bone densitometry: Doctor ten puitlin hma leh puitlin laiin ruh density an test thei.
• X-ray: I fa hip leh khup a harsatna a awm leh awm loh enfiah nan X-ray hi tih theih a ni a, a bik takin a thang chak hun lai hian.
• Hmasawnna tehna: SDS vei naupang thenkhat chuan hmasawnna lama harsatna an nei thei a, chu chu attention deficit disorder (ADD) te hi a ni. Doctor-te chuan pian tirh atanga kum 6 an tlin thlengin thla ruk danah hmasawnna an teh thei a, thla ruk danah an than dan an teh thei bawk.
• Neuropsychological testing leh assessment: SDS hian attention deficit disorder (ADD) emaw pervasive developmental disorder (PDD) ang chi natna a thlen thei a ni. Doctor-te chuan kum 6-8, 11-13, leh 15-17 inkarah hian regular assessment neih a rawt thei a ni.

Engtin nge ka fa chu he dinhmun hi tuar chhuak tûrin ka ṭanpui theih ang?

Hetiang natna nei naupangte hian damdawi lama harsatna hrang hrang an nei thei a ni. Nutrient leh thau an lakluh theih nan enkawlna an mamawh mai thei. Hri kai an kai tam zawk. Tin, ruh dik lo an nei thei bawk a, chu chuan midang aiin a danglamin a lang thei bawk.

Eng pawh ni se, he natna vei naupangte hian ngaihtuahna inang an nei thei – mi dangte aiin an danglam tih hi . Sikul leh thil dang laka inthiarfihlim thei tur enkawlna an mamawh mai thei. An hmel a danglam thei. I fa chu a lo seilian chhoh zêl chuan, chûng inthlâk danglamnate chuan a tithinur thei a, a ti lungngai thei bawk. Chûng rilru put hmang hriatthiamna chuan i fa chu a rilru put hmang a thunun thei a ni. Naupang thenkhat chuan rilru lam hriselna lama mithiamte biak hian hlawkna an hmu thei a ni. I fain an dinhmun a hmachhawn dan tur i ngaihtuah a nih chuan i doctor hnenah rawtna zawt rawh.

Engtikah nge Doctor ka hmuh ang?

I fain Shwachman-Diamond syndrome a neih chuan i fa taksaa inthlak danglamna awmte hriat reng tum tur a ni . SDS symptoms hi hun kal zelah a danglam fo thin. A châng chuan heng inthlâk danglamnate hi harsatna lian tak tak, thisen cancer pawh tiamin, a thlen theihna chhinchhiahna a ni thei bawk.

Naupangte taksa hi nausen lai te, naupan lai te, tleirawl lai te (a bik takin tleirawl leh puitlin hun), leh puitling tleirawl lai te an paltlang zel a, an taksa hi a danglam reng a ni. Heng inthlak danglamna te hi natna thar emaw, natna khirh zawk emaw chhinchhiahna a ni ngai lo.

I fa hian doctor appointment a nei fo thin.Chutiang appointment pangngai chu harsatna lian zawk chhinchhiahna ni thei inthlâk danglamna chungchânga zawhna zawh hun ṭha ber a ni.

Doctor hnenah eng zawhna nge ka zawh ang?

Shwachman-Diamond syndrome hi a awm ve lo. I nei tih pawh i hre lo mai thei. Doctor i zawh theih tur zawhna thenkhat chu hetiang hi a ni:

• Engvangin nge ka fa hian hetiang dinhmun hi a neih?
• Hetiang dinhmun hi a na lo em ni a, a na em em?
• He dinhmun hian engtin nge ka fa chu a nghawng?
• Enkawlnate chu engte nge ni?
• Ka fa symptoms hi a na zual ang em?
• Ka fa unau dangte hi genetics test an ngai em?
• Kei leh naupang biological parent dang nen hian genetic testing kan neih a ngai em?
• Engtin nge ka fa chu enkawlna enkawl turin ka puih theih ang?

A tawp berah chuan a pawimawh ber (Take-Home Message) .

Shwachman-Diamond syndrome hi thil awm lo, rochun atanga lo chhuak a ni a, naupangte thanlenna te, bacteria infection an neih awlsamna te, ruh dik lo te a nghawng a ni. Naupang thenkhat chuan natna lanchhuahna na lo tak tak an neih laiin, he natna vei naupang zawng zawng hian dam chhung damdawi lam enkawlna an mamawh vek dawn a ni. I fain Shwachman-Diamond syndrome a vei a nih chuan, hmalam hun tur hriat chian lohna chuan a ti buai hle mai thei. Hetiang dinhmunah hian i awm a nih chuan i ngaihtuahnate chu i fa doctor-te hnenah sawi rawh. Naupang natna khirh tak, a châng chuan beisei loh tak nei, ngaihtuah leh enkawl chu eng ang nge tih an hrethiam a ni. I fa chu natna a tuar theih nan chauh ni lovin, a dam khawchhuah theih nan an pui thei bawk. Tin, i fate tanpui turin an lawm hle bawk. Mahni chauha inhriat ngai suh la, tanpuina dil rawh.

` Shwachman-Diamond syndrome, SDS, genetic abnormalities, pancreas, bone marrow, ruh dik lo, naupang natna, neutropenia