Turcot Syndrome hi eng nge ni? A nghawng thei che em? Chipchiar takin sawi ila!

Genetic disease hmuh tur awm lo tak i hre ngai em? A châng chuan, kan taksa hian harsatna kan nei tih pawh kan hriat loh a nei thei a. Vawiin hian chutiang dinhmun hmuh tur awm lo tak pakhat, hriat tur pawimawh tak chu kan sawi dawn a ni. Turcot Syndrome tih a ni.

Turcot Syndrome hi eng nge ni mai?

A awlsam zawngin Turcot Syndrome hi genetic condition hmuh tur awm lo tak a ni. A bulpui ber chu kan chaw ei danah, chu chu intestine-ah te, thluak emaw, ruhro emaw-a tumor te lo piang chhuak (polyps an ti bawk) a ni. Vawi khata hmun hniha harsatna neih chu a tithinur thei hle tih han ngaihtuah teh.

Heng thil te te (polyps) te hi intestine-a a lo awm hian mi thenkhat chuan rectal bleeding, bowel movement tam zawk (diarrhea), leh stomach cramps te ang chi symptoms an nei thei a ni Tin, thluak emaw, ruhro (spinal cord)-a tumor lian tham leh awmna hmun a zirin , lu na, mit hmuh lohna, balance hloh, leh tlu fo ang chi neurological symptoms a awm thei bawk.

Damdawi lam zirchiangtu thenkhat chuan Turcot Syndrome hi Familial Adenomatous Polyposis (FAP) chi khat a ni thei niin an ngai. Mahse, hei hi finfiah a la ni lo. FAP hi cancer a lo awm hmaa colon-ah polyp te tak te tam tak a lo awm thinna a ni bawk. An pahnih inkarah hian inzawmna a awm thei a, Turcot Syndrome vei thenkhat chuan APC gene-ah mutation an nei a ni. APC gene-a mutation awm hian FAP a thlen thei bawk.

Hei hi a tlem em em a, khawvel puma medical record-ah hian case tlemte chauh, 150 vel chauh hmuhchhuah a ni. Chuvangin hei hi a tlem zia chu i ngaihtuah thei ang.

Hei hi thlahtu natna a ni em? Engtin nge mi pakhatin a tihhmasawn?

Ni e, Turcot Syndrome hi inherited genetic disorder a ni a, chu chu nu leh pa atanga fate hnenah genes hmanga kai a ni tihna a ni . Kan genes-a inthlak danglamna, a nih loh leh mutations engemaw zat avanga lo awm a ni. Kawng lian pahnihin min nghawng thei a ni:

1. Type 1 Turcot Syndrome: Hei hi Turcot syndrome "dik tak" tia hriat a ni bawk. Autosomal recessive trait anga rochun a ni. A awlsam zawngin, naupangin he natna hi a neih theih nan chuan nu leh pa pahnih hian gene mutation chu an rochun a ngai a ni. Lottery-a chak ang mai a ni (mahse chu chu thil tha a ni lo!). Hetiang chi hi gene `(MLH1)` leh `(PMS2)`-a mutations vang a ni tlangpui.

2. Turcutt Syndrome chi 2-na: 1.1.Hei hi ``autosomal dominant trait`` anga inherited a ni.`` Chu chu naupang chuan nu leh pa pakhat chauh, nu emaw pa emaw atanga gene mutation inzawm chu rochun mahse he natna hi a vei thei tihna a ni. Hei hi ``(APC)`` gene inthlak danglam vang a ni. He ``(APC)`` gene hnathawh hi a takah chuan kan taksaa cancer natna hrik lo awm tur venna emaw, a lo thang lian zel tur tihtawp emaw a ni. Chuvângin, chu gene chuan hna a thawh ṭhat loh chuan buaina a lo chhuak a ni.

He natna lan chhuah dan berte chu engte nge ni?

Turcot Syndrome chhinchhiahna ber chu, kan sawi tawh ang khan , intestines-a polyps leh thluak emaw spinal cord-a tumor pakhat emaw a aia tam emaw a awm a ni. Mi thenkhat chuan heng polyp tam tak hi an nei thei a , chu chu an naupan lai atang tawhin an lo thang tan tihna a ni.

Intestines-a lian te te (polyps) awm chhinchhiahna

Mi pakhata heng thing lian (polyps) te tak te lo piang chhuak zat hi mi hrang hrangah a inang lo thei.

• Heng polyp te hi Type 1 Turcotte syndrome vei te zingah hian cancer a nih theihna a sang zawk.
• Type 2 Turcotte syndrome vei te hian a hmaa kan sawi tawh ``Familial Adenomatous Polyposis (FAP)`` hi an vei tam zawk.

Heng thil lian tham te te (intestinal polyps) te hi intestines-a lo awm hian symptoms a thlen thei a, chungte chu:

• Pum natna
• Ek khal
• Kawthalo
• Rectal atanga thisen chhuak
• Weight loss, chu chu weight loss tihna a ni

Brain/Spinal Cord Tumors natna lan chhuah dan

Thluak emaw, ruhro emaw a tumor lo awm hian kan central nervous system (CNS) a nghawng thei a ni. Kan central nervous system hi taksa hnathawh tam tak, thluak leh ruhro (spinal cord) te pawh a thunun theitu system a ni. Hei hian symptoms a thlen thei a, chungte chu:

• Balance hloh, tlak fo (Balance harsatna) .
• Lu na na tak
• Hriatthiamna hloh - kut, ke, taksa peng hrang hranga rilru hahna
• Nausea emaw, luak chhuak emaw
• Seizures a awm thin
• Mit lama harsatna, double vision emaw blurred vision emaw pawh a tel
• I taksa peng khata chak lohna (entir nan, kut pakhat, ke pakhat emaw, i taksa sir khat emaw) .

Cancer ziarang leh chi dang, a hlauhawmna sang zawk

Turcot Syndrome vei te hian an vunah cancer ni lo fatty tumor (lipomas) emaw, brown spot te te (café-au-lait spots) emaw an nei fo thin .

Tin, he natna hian cancer leh tumor chi hrang hrang vei theihna a tipung bawk. A bulpui berte chu:

• Colon cancer a ni
• Astrocytoma (thluak natna chi khat) .
• Ependymoma (thluak leh ruhro chhunga tui tamna hmun line tu cell atanga intan tumor chi khat) .
• Glioma (thluak thlawptu cell atanga lo chhuak tumor) .
• Glioblastoma (thluak cancer chi khat na tak a ni) .
• Medulloblastoma (cancer chi khat, cerebellum-a lo awm, chu chu thluak hnuai lam, luruh bula awm) .
• Basal cell carcinoma a awm a, chu chu vun a ni

He natna hi engtin nge an hriat chhuah? (Diagnosis) tih a ni.

Turcot Syndrome i vei em tih hriat nan i doctor chuan test eng emaw zat a ti ang a, a bik takin i thluak leh i intestines vel a en ang. Hei atan hian:

• X-ray, MRI, leh CT scan ang chi test te hi thluaka tumor emaw intestinal polyp emaw zawng turin tih theih a ni. Thil bik thenkhatah chuan PET scan pawh tih a tha thei bawk.
• Colonoscopy: Hei hian hnute kaltlangin tube te tak te, eng nei tak dahin, intestine lian leh rectum chhung lam chu a danglamna a awm leh awm loh enfiah a ni.
• Biopsy test: Colon emaw thluaka tumor hmuh a nih chuan tissue te tak te la in microscope hmangin an enfiah thin.

A pawimawh ber chu i nu leh pa zinga pakhatin Turcot Syndrome a neih chuan he natna hi i screening a rinawm zawk.

Chutiang hunah chuan doctor chuan hetiang hi a rawt thei a ni:

• DNA testing: He genetic testing hian Turcotte syndrome thlentu mutated genes a awm leh awm loh a hriat theih a ni.
• Sigmoidoscopy: Hei hian intestine lian hnuai lam (sigmoid colon) a enfiah thin. Thalai, Turcotte syndrome gene rochun tawhte chuan kum 35 vel an tlin thlengin colon exam an nei chhunzawm thei a ni. Hei hian colon chhunga thil lian te te (polyps) te chu a hmain hriatchhuah leh enkawl theihna a siam a ni.

Turcot Syndrome hi eng enkawlna nge ni?

Turcot Syndrome enkawl dan hi a natna lan chhuah dan azirin a inang lo.

I colon chhunga thil te te (polyps) te paih chhuah nan polypectomy i neih a ngai mai thei. I doctor chuan heng a lo piang leh tawh loh nan operation vawi engemaw zat neih a rawt thei bawk. Entir nan:

• `Ileoproctostomy`: Intestine lian tak chu lakchhuah a ni a, rectum leh small intestine chu inzawmkhawm a ni.
• `Ileostomy` tih hi a ni.Rectum chu lakchhuah a ni a, small intestine chu pum pawn lam nen an inzawm a (storol pass out theihna tur kawng hran siam nan).
• `Ileoanal anastomosis`: Intestine te leh hnute a thlunzawm a.
• Colectomy: Colon thenkhat emaw, a pum emaw lakchhuah.
• `Proctocolectomy`: Colon leh rectum pahnih hi lakchhuah a ni.

Thluak emaw, ruhro emawa tumor awmte enkawl dan a inang lo thei. Doctor-te chuan tumor hi paih chhuah an tum tlangpui. Enkawl lai hian a chhehvela tissue hrisel te tihchhiat tlem an tum thin. Chutiang ti tur chuan:

• `Chemotherapy` tih a ni
• Radiation hmanga enkawlna a ni
• Inzai

Enkawl dan hrang hrang te chu:

Kei pawh he natna hi ka vei theihna hlauhawmah ka awm em?

I nu leh pa zinga pakhatin Turcot Syndrome a neih chuan he natna hi i vei theihna chance a sang zawk a ni. A nih loh leh, genetic carrier i ni thei bawk. Genetic carrier i nih hian symptoms i nei lo tihna a ni a, mahse he natna thlentu gene i nei a, chuvang chuan i fate pawhin an pass thei a ni.

Turcot Syndrome i vei nia i rinhlelh chuan i doctor chuan DNA test neih a rawt thei ang. Hei hian a kaihhnawih gene mutation a awm leh awm loh a enfiah thei a ni.

He natna hi i nunpui hian eng nge thleng thin? Dam theih loh a ni em?

Vanduaithlak takin Turcot Syndrome hi damdawi a la awm lo. Hetiang dinhmun hi i neih chuan a pawimawh ber chu i doctor nen thawk hovin thluaka tumor leh colorectal cancer te screening neih fo hi a ni. Cancer ang chi thil i hriat hma chuan hlawhtlinna i neih theihna chance a sang zawk. Chuvangin, hlauthawng lo leh doctor thurawn zawm a pawimawh.

I doctor zawh tur zawhna pawimawh

I doctor hnenah hetiang zawhna thenkhat hi i zawt thei ang:

• Ka natna lan chhuah chhan ber chu eng nge ni?
• Turcot Syndrome ka vei em tih chiang taka hriat theih nan eng test nge ka tih ang?
• He natna gene hi carrier ka ni em?
• Turcot Syndrome enkawl dan tur chu engte nge ni?
• Enkawlna ka hmuh loh chuan eng nge thleng thei ang?
• Turcot Syndrome nei fa ka neih theihna chance engzat nge awm?

Glioblastoma ang chi thluaka tumor hi thlahtute atanga lo chhuak a ni tlangpui lo tih hre reng ang che. Mahse, Turcot Syndrome ang chi hereditary condition nei te hian a chang chuan heng tumor te hi an nei thei a ni.

A tawp berah chuan hriat reng tur tlemte

Turcot Syndrome hi a awm lo hle a, genetic condition a ni a, intestine-ah te te (polyps) a tipung a, thluak emaw spinal cord-ah tumor a siam bawk. A natna lan chhuah dan azirin enkawl dan a inang lo. I intestines thenkhat emaw, i thluak emaw, i spinal cord-a tumor emaw lakchhuah nan operation i mamawh mai thei. He natna hi damdawi awm lo mah se, i natna lan chhuah dan enfiah te, test neih fo te , enkawl hmasak te hian i natna hi a enkawl thei che a ni. Chuvang chuan i hriselna hi i enkawl a pawimawh a ni.

Turcot Syndrome, genetic diseases, colon polyp, thluaka tumor, cancer hlauhawmna, genetic testing te pawh a awm thei