Rothmund-Thomson Syndrome (RTS) chungchanga hriat tur i neihte!

I fate vun emaw, sam tlakchham emaw i ngaihtuah em? A chang chuan, heng symptoms te hi thil awm lo vang a ni thei bawk. Chutiang dinhmun pakhat chu Rothmund-Thomson Syndrome , a nih loh leh a tawi zawngin (RTS) a ni. A hming hi a buaithlak deuhin a lang thei a, mahse a awlsam leh hriatthiam awlsam takin i dah ang u.

Rothmund-Thompson Syndrome (RTS) hi eng nge ni?

A awlsam zawngin sawi ila, Rothmund-Thompson syndrome hi naute thenkhat piangsualna a ni. Genetic condition a ni. Chu chu kan taksaa gene tenau ber pakhat inthlak danglamna avanga lo awm a ni tihna a ni. Hetiang dinhmun hian naupang taksa peng engemaw zat a nghawng thei a ni. Vun, sam, ha, ruh, mit, leh nau neih theihna a nghawng ber a ni. A châng chuan, heng naupangte hian an kut, ke leh kutphah ang chi thil lian leh te, a pianziaah danglamna an nei ṭhin.

He natna hi tuin nge vei? Engtiang chiahin nge a hluar?

Rothmund-Thompson syndrome hi inherited genetic disorder a ni a . Chumi awmzia chu nu leh pa pahnih hian gene bik pakhatah mutation an neih chuan an fa hian syndrome hi a vei mai thei tihna a ni.

Mahse, lungngai suh, hei hi thil awm lo tak a ni . Khawvel pumah hri kai hi mi 300 vel chauh hmuh chhuah a ni. Chuvangin mi zawng zawng chunga thil thleng a ni lo.

Hei hi hming dang a awm em? Ni e, a chang chuan `(poikiloderma congenitale)` an ti bawk.

Rothmund-Thompson syndrome hian engtin nge ka naute hi a nghawng ang?

Hetiang dinhmun (RTS) hian naupang thanlen dan leh thanlen danah inthlak danglamna engemaw zat a thlen thei a ni. Eng thil nge thleng ber tih hi han thlir ila:

• Skin rash: Rash sen a lo lang thei a, a bik takin hmuiah.
• Sam tlakchham emaw, sam sei emaw: Lu-ah sam tlakchhiatna a awm thei a, chubakah mitmeng leh mitmeng tlakchhamna a awm thei bawk.
• Mit inthlak danglam: Mit lama harsatna thenkhat a awm thei.
• Ha chhuah tlai: Naupang dang aiin ha chhuak tlai zawk a awm thei.
• Facial features: Hnar te tak te leh a hnuai lam rawn chhuak chhuak ang chi features i hmu mai thei.

Rothmund-Thompson Syndrome hian Taksa System a nghawng dan

He genetic condition hian kawng hrang hrangin mihring a nghawng thei a ni. Chumi awmzia chu mi zawng zawngin symptom inang an nei vek dawn lo tihna a ni. Taksa system hrang hrang a nghawng dan hi han thlir ila.

Vun

Hetiang natna vei naute hian thla 3 leh thla 6 inkar ah an hmaiah vun an nei tlangpui. He rash hi a hnuah kut, ke leh hnute thlengin a darh thei a ni. He rash hi ``poikiloderma'' an ti bawk.A natna lan chhuah dan hrang hrang, vun rawng danglam, thisen kalna kawng hmuh theih, leh vun hring hring te hi a inzawm khawm a ni.

A pawimawh ber chu heng naupangte hi vun cancer (`Basal cell carcinoma` leh `Squamous cell carcinoma`) vei theihna chance a sang zawk a ni. Chuvangin, ni laka invenna leh vun endik fo hi a pawimawh hle.

Sam

Heng naupangte hian lu vun vun an nei tlem hle mai thei. Tin, mitmeng emaw, mitmeng emaw an nei tlem hle emaw, an nei lo emaw pawh a ni thei.

Ha

Rothmund-Thompson syndrome vei naupangte chuan ha an hloh thei a, ha an nei tha lo thei a, ha an rawn lut tlai hle thei bawk. Tin, ha zung (dental cavities) an neih theihna chance a sang zawk bawk. Chuvang chuan ha enkawltu (dentist) hnenah ha enfiah fo thin hi a tha a ni.

Mit

Hetiang genetic condition nei naupangte hi mitdelna (cataract) vei theihna a sang hle a, a tlangpuiin kum 3 leh 7 inkar vel an ni a, mit chhunga lens awmte chu mitdelna (clouding) a ni. Hei hian mitdelna a thlen thei a ni.

Ruh te

Ruh lamah pawh inthlak danglamna engemaw zat a awm thei bawk. Ruh chu a tlangpui aia te a ni thei a, a inzawm khawm thei a, ruh thenkhat a awm lo thei bawk. Tin, ruh te hi a hring a, awlsam takin a chhe thei (fractures).

Chaw ei dan (Gastrointestinal) .

RTS vei naute hian chaw pek harsatna an nei thei. Luak chhuak leh luak chhuak hi a tam hle bawk.

Thisen kal dan (Hematologic) 1.1.

Heng naupangte hian thisen tlakchhamna (anemia) leh thisen var (white blood cells) tlahniam ang chi natna an nei fo thin. White blood cells hi kan taksaa cell chi khat, natna dotu a ni.

Thang

Heng naute hi pian tirh atanga rihna hniam leh sei tawi tak neia piang an ni thei. Rothmund-Thompson syndrome vei tam tak chu an dam chhungin a tlangpui aia rei lo zawkah an awm mai thei.

Nau neih theihna

Hmeichhiaah chuan thlasik hun pangngai lo a awm thei.

Rothmund-Thompson syndrome hian eng harsatna nge a thlen?

Hei hi kan ngaihtuah ber tur a ni. Naupang (RTS) vei te hi cancer chi hrang hrang vei theihna a sang hle. A bulpui berte chu:

• Ruh cancer (`Osteosarcoma`) a ni.
• Lymphatic leukemia, thisen cancer chi khat a ni
• Lymphoma (lymphatic system-a cancer) 1. A rilru a hah lutuk chuan a rilru a buai em em a.
• Vun cancer (`Basal cell carcinoma` leh `Squamous cell carcinoma`) te hi a ni.

Chuvangin heng naupangte hi medical checkup neih fo a, cancer laka fimkhur a pawimawh hle.

Eng thilin nge Rothmund-Thompson syndrome hi a thlen?

Rothmund-Thompson syndrome hi genes `ANAPC1` emaw `RECQL4` emaw a mutation vang a ni.RTS vei thenkhat chuan he mutation hi an nu leh pa hnen atangin an rochun thin. Entirnan, nang leh i kawppui hi he gene mutation kengtu in nih chuan i fa hian RTS vei theihna chance 4 zinga 1 a nei a ni.

Mahse, RTS vei zawng zawng hian he gene mutation bik hi an nei vek lo. Mi thenkhatin `ANAPC1` emaw `RECQL4` genes-a mutation nei lovin engvangin nge mi thenkhatin RTS an vei tih zirchiangtute chuan an la chhui mek a ni.

Rothmund-Thompson syndrome natna lan chhuah dan chu engte nge ni?

Rothmund-Thompson syndrome symptoms hi a dam kum khatnaah a lang tlangpui. Mahse, natna lan chhuah dan hi mi tin a inang lo. A lan chhuah dan tlangpui thenkhat chu:

• Mit (cataract) a awm
• Hmai lam inthlak danglamna (e.g., hnar te, hmui hnuai lam chhuak) .
• Chaw pek harsatna, a bik takin bawnghnute emaw formula emaw in hnua luak emaw, riltam emaw
• Kut, kut leh ke ruh tichhe thei
• Ha te tak te, a pianzia dik lo emaw, a bo emaw
• Sam tlakchham emaw, sam sei tlem emaw (mit leh mitmeng leh mitmeng te pawh tel) .
• Vunah a hring, a hring (keratotic lesions - corn ang chi) .
• Vun rawng (poikiloderma) leh vun hring (blisters) a awm thei bawk
• Vun rawng a inthlak (vun rawng inthlak danglamna hmun) .

Engtin nge doctor-te hian Rothmund-Thompson syndrome hi an hriat theih?

I nauteah hian heng symptoms te hi nangmah ngeiin i hmu mai thei. A nih loh leh, i doctor chuan well-baby visit tih dan pangngaiah heng symptoms te hi a hmu thei bawk. I doctor-in RTS a rinhlelh chuan a natna hriat chian nan test eng emaw zat an ti ang.

Eng test nge diagnose (RTS) atan hman thin?

Doctor chuan test hrang hrang a rawt thei a, chungte chu:

• Skin biopsy: I fain vun rawng poikiloderma an tih a neih chuan doctor chuan vun sample tlem a la a, test turin a thawn thei a ni. Specialist doctor (pathologist) te chuan he sample hi microscope hmangin an enfiah ang a, vun cell ah hian danglamna a awm em tih an enfiah ang.
• Genetic testing: Hei hi thisen test a ni. Genes `ANAPC1` emaw `RECQL4` emaw ah mutation a awm leh awm loh a hre thei. Hei hian a nemnghet thei (RTS). Mahse hre reng ang che, naute (RTS) vei zawng zawng hian he genetic mutation hi an nei vek lo.

Rothmund-Thompson syndrome hi engtin nge enkawl a nih?

Vanduaithlak takin doctor-te chuan Rothmund-Thompson syndrome hi an tidam kim thei lo. Mahse a natna lan chhuah dan chu an enkawl thei tho. (RTS) enkawlna chu i fa natna lan chhuah danah a innghat a ni. I doctor chuan i fa hriselna atana pui thei tur enkawlna chungchang a sawipui ang che.

I fate natna lan chhuah dan chiang tak leh kum a zirin doctor-te chuan heng ang enkawlna hi an rawt thei ang:

• Mitdel surgery hmanga mit hmuhna tihchangtlun a ni.
• Ruh pangngai lo a awm chuan ruh surgery bik (`Orthopedic surgeries`) hmanga enkawl theih a ni.
• Ni êng chak tak laka invenna(sunscreen hman, lukhum bun) leh i vun enfiah fo .
• Ha enkawl fo tur leh a tul chuan ha enkawl dan tur (restorative dental treatment) neih fo thin tur a ni.
• Cancer surveillance: Hei hian cancer chhinchhiahna awm leh awm loh enfiah fo tihna a ni .

Hei hi genetic treatment a awm em?

Tunah hian Rothmund-Thompson syndrome hi gene treatment phalsak a la awm lo a, mahse zirchiangtute chuan RTS nena inzawm genetic mutations hi an chhui chhunzawm zel a ni.

Ka naute a lo thanlen loh nan (RTS) ka veng thei ang em?

Vanduaithlak takin Rothmund-Thompson syndrome hi ven dan tur a awm lo. Genetic condition a ni. Mi thenkhat chuan chhungkaw history avang hian an nei thei a ni. A châng chuan chhan hriat chian loh vang pawh a thleng thei bawk.

Engtin nge ka naute hi a vei theihna (RTS) a nih leh nih loh ka hriat theih ang?

I chhungkuaa (or i kawppui chhungte) mi pakhatin Rothmund-Thompson syndrome a neih chuan genetic counseling lak a pawimawh hle. Hei hian RTS vei fa neih theihna tur risk i hriat belh theih nan a pui ang che. Nang leh i kawppui nen hian thisen test in nei ve ve a, he gene mutation carrier in nih leh nih loh hriat theih a ni.

He gene mutation hi in pahnih hian in nei ve ve ang tih han ngaihtuah teh. Hei hian i naute hian RTS a nei ngei ang tihna a ni lo. I naute hi RTS (a awmzia chu a fate hnenah natna lanchhuahna nei lovin gene hi a pe thei tihna a ni) kengtu a ni thei a, mahse a lan chhuah loh pawh a awm thei bawk.

Ka fain (RTS) a neih chuan eng nge ka beisei ang?

Doctor ten i fa chu uluk takin an enfiah ang (`surveillance`). Naupang (RTS) vei te hi cancer thenkhat vei theihna a sang zawk avangin doctor chuan heng cancer chhinchhiahna te hi a enfiah fo ang.

I fa hian an RTS symptom thenkhat enkawl nan specialist te tanpuina a mamawh mai thei. Naupang enkawltu pangngai bakah hian mit lam doctor, vun lam doctor, ha enkawltu, ruh lam doctor, geneticist, leh hematologist/oncologist te pawh an hmu thei bawk .

Ka fa Rothmund-Thompson syndrome vei dam rei zawng chu engzat nge ni ang?

Rothmund-Thompson syndrome vei naupang tam zawk hian hmalam hun tha tak an nei a. An finna pawh a pangngai a ni. (RTS) vei, cancer vei lote chu dam chhung pangngaiin an hmang thin.

Rothmund-Thompson syndrome nei ka fa hi engtin nge ka enkawl ang?

I fa natna lan chhuah dan tur chu i doctor nen inbia fo ang che. Doctor chuan specialist-te hnen atanga tanpuina dil turin a rawt mai thei.

I fa vunah hmun thar emaw, hnim hring emaw i hmuh chuan doctor hnenah hrilh nghal rawh, a bik takin a rawng emaw, a rawng emaw a inthlak chuan. Tin, i fa kut emaw ke emaw a hring emaw, a hring emaw i hmuh chuan emaw, i fain natna a complain emaw chuan i doctor hnenah hrilh bawk ang che.

Take-Home Thuchah a ni

Rothmund-Thompson syndrome hi genetic condition a ni a, naute thenkhat chu an pianpui thin a ni. Vun vun rawng, sam, ruh, leh ha inthlak danglamna a thlen thin. Cancer vei theihna a tipung bawk. (RTS) hi tihdam theih a ni lo va, a natna lan chhuah dan erawh enkawl theih a ni. I fa chu nun hrisel tak a neih theih nan i doctor nen inbia ang che. Ngaihtuah buai suh, he natna hi damdawi lam thurawn leh enkawlna dik tak nen enkawl theih a ni.

` Rothmund-Thomson Syndrome, RTS, poikiloderma, genetic disorder, vun natna, sam tlakchham, cancer hlauhawmna