I chhungte zingah hian heng symptoms hi tu emaw hian an nei em? Bannayan-Riley-Ruvalcaba Syndrome (BRRS) chungchang hi han sawi ila

Vawiin hian dinhmun hmuh tur awm lo mahse pawimawh tak kan sawi dawn a ni. Banyan-Riley-Ruvalcaba Syndrome, a tawi zawngin ``BRRS'' an ti a. Genetic condition a ni. Chu chu kan taksaa genes inthlak danglamna tlemte avanga lo awm a ni tihna a ni. Hetiang dinhmun hian taksa hmun hrang hrangah lump pangngai (``tumors'') lo awm theihna a tipung a ni. Lungngai suh, hei hi awlsam takin i hrethiam ang u.

Banyan-Riley-Ruvalcaba Syndrome (BRRS) hi eng nge ni?

A awlsam zawngin, `(BRRS)` hi genetic condition a ni . Natna pawl pakhat `(PTEN hamartoma tumor syndrome (PHTS))` tia koh zinga mi a ni. `(Cowden syndrome)` tih pawh i hre tawh mai thei, hei pawh hi he `(PHTS)` category-ah hian a tel ve bawk.

He `(BRRS)` dinhmun hi kan taksaa `(PTEN)` an tih gene inthlak danglamna, a nih loh leh mutation , avanga lo awm a ni tlangpui. He `(PTEN)` gene hian kan cell te than dan a control a, a bik takin tumor thanna control tu protein siamchhuahna a control a ni. Chuvangin, `(BRRS)` nei mi pakhata he `(PTEN)` gene hian hna a thawk tha lo a, an cell te chu thunun theih lohvin an thang lian thei a ni. Hei hian hamartomas , cancer leh cancer ni lo tumor dangte pawh a vei theihna a tipung a ni. Hei bakah hian cancer chi hrang hrang vei theihna a sang hle bawk.

Chu bâkah, nau piang rihna a pung a, lu lian zawng aia lian (macrocephaly), mipa serh, leh hmasawnna leh rilru lama tihkhawtlai chi hrang hrang a awm thei bawk.

`(BRRS)` tih hming dang eng nge hman?

He dinhmun hi hming dang engemaw zatin an ko bawk. Heng hming zinga pakhat hi i hre tawh mai thei:

• Riley-Smith natna a ni
• Ruvalcaba-Myhre natna a ni
• Ruvalcaba-Myhre-Smith natna a ni
• Bannayan-Zonana natna a ni

He `(BRRS)` dinhmun hi engtiang chiahin nge a awm?

He natna hi engtiang chiahin nge a awm tih chiang taka sawi a harsa a, a chhan chu mi hrang hrangah a symptoms hi a inang lo hle a ni. A lan chhuah dan thenkhat chu a fiah lo hle. Mahse, zirchiangtu tam zawk chuan hei hi thil awm lo tak niin an ngai .

`(BRRS)` natna lanchhuahna chu engte nge ni?

Bannayan-Riley-Ruvalcaba syndrome natna lanchhuah dan hi a inang lo hle. Mi thenkhat chuan heng symptoms hi tam tak an nei thei a, thenkhat erawh chuan tlemte chauh an nei thei thung. A lan chhuah dan lian ber berte hi han thlir ila:

• Pian tirh atanga rit leh sei sang tak neih .
• Lu pangngai aia lian (macrocephaly).
• Mipa naupangte genital area- a spot (pigmented macules) hmuh.
• Muscle tone tlakchham (hypotonia). Ngaihtuah teh, naute i lak hian a ke ruhte chu a lo hlim deuh niin i hria.
• Thusawi leh/ emaw motor thiamna tihhmasawnHmasawnna lama tlai lutuk.
• Hei hian rilru lama harsatna nei (BRRS) zinga 50% vel a nghawng thei a ni.
• Autism spectrum disorder (`(Autism spectrum disorder)`) - Naupang autism vei zinga 20% vel chuan `(PTEN)` gene-ah mutation an nei tih hmuhchhuah a ni.
• Muscle chak lohna .
• Hamartomas hi cancer ni lo, intestine chhunga cell leh tissue te lo thang dan pangngai lo a ni.
• Hyperflexible joint te pawh a awm thei .
• Epilepsy ang chi natna (`(seizures)`).
• Pectus excavatum - Hei hi rilru ruh lai tak chu chhung lam hawia inhnim pilna a ni.
• Scoliosis natna a ni .
• Acanthosis nigricans (`(Acanthosis nigricans)`) - Taksa folds leh elbows, neck, etc.-a vun a dum.
• Fatty tumors (lipomas) vun hnuaia lo awm thin.
• Cancer ni lo lumps, thau leh thisen kalna (angiolipomas) atanga siam.
• Vun hnuaia thisen kalna kawng dang awmkhawm atanga lo awm , birthmark ang chi (hemangiomas) te.

Mi zawng zawng hian heng mizia zawng zawng hi kan nei vek lo tih hre reng ang che. Mi thenkhat chuan tlemte chauh an nei thei.

`(BRRS)` awm chhante chu engte nge ni?

Hetiang ``(BRRS)`` dinhmun hi a lo awm chhan lian tak pahnih a awm a:

1. I `(PTEN)` gene-a mutation awm . (Hei hi a chhan tam ber a ni.)

2. I `(PTEN)` gene zawng zawng emaw, a then emaw pawh huam tel genetic material deletion lian tak . (Hei hi 10% velin a thleng thin.)

Kan sawi tawh ang khan i PTEN gene hian tumor thanna control tu protein a siam a. He gene hi a bo emaw, a thawk tha lo emaw a nih chuan i cell te chu thunun theih lohvin an inthen tan thin. Hei hian hamartomas leh cancer leh cancer ni lo tumor dangte a thlen thin.

Mahse, mithiamte chuan PTEN gene-a mutations hian BRRS symptom dang, macrocephaly (lu lian), taksa ruh leh ruh dik lo, leh hmasawnna leh rilru lama tihkhawtlai te hi engtin nge a thlen tih chiang takin an la hre lo.

`(BRRS)` hi thlah khat atanga thlah dangah a kal zel em?

Ni e, nu leh pate chuan `(BRRS)` condition hi an fate hnenah an pass thei a ni. Hei hi `(autosomal dominant inheritance )` an ti a. A awlsam zawngin, nu leh pa zinga pakhatin mutated `(PTEN)` gene copy khat an neih chuan an fain he natna hi a rochun theihna chance 50% a nei a ni.

Engtin nge `(BRRS)` hi kan hriat theih ang?

Doctor chuan BRRS i vei nia a rinhlelh chuan PTEN gene chu genetic test turin an order mai thei.Genetic test neih a tha. Hei hian gene sequencing an tih process a keng tel a ni. Chumi awmzia chu gene peng tin hi an enfiah a, inthlak danglamna emaw, inthlak danglamna emaw a awm em tih an enfiah a ni.

He `(PTEN)` test hi a dik hle. I doctor chuan `(PTEN)` gene mutation a hmuh chuan `(BRRS)` i nei tih chiang takin 100% in an nemnghet thei ang. Mahse, `(BRRS)` symptom nei zinga 60% chauhvin detectable gene mutation an nei a ni. Chumi awmzia chu `(BRRS)` symptom nei zinga 40% vel chuan test result pangngai an nei thei tihna a ni. `(PTEN)` test i duh chuan i doctor nen inbia ang che.

Engtin nge `(BRRS)` hi enkawl a nih?

``(BRRS)'' hi enkawlna bik a awm lo. Chu ai chuan, Bannayan-Riley-Ruvalcaba syndrome enkawlnaah chuan i natna lan chhuahna leh chhinchhiahna danglam takte enkawl a ngai a ni .

BRRS vei te hian cancer chi hrang hrang, symptom nei emaw nei lo emaw screening neih fo tur a ni. Doctor-te chuan PTEN gene mutation nei nia hriatte chu Cowden syndrome screening guidelines zawm turin an rawt a ni. Hei hian heng cancer te screening te pawh a huam tel a ni:

• Hnute cancer a ni
• Uterine cancer a ni
• Thyroid cancer a ni
• Kidney cancer a ni

Genetic counseling hi BRRS vei tan chuan a \angkai hle. Chhungkaw member BRRS symptoms nei lote pawhin PTEN gene test a ngai a, cancer screening guidelines pawh zawm tur nge an nih tih hriat a ngai bawk.

`(BRRS)` tana enfiahna kaihhruaina

Cancer chi hrang hrangah hian surveillance guidelines bik a awm a, engtikah nge test tan tur tih pawh a tel. Cancer zawng zawng hi a hriat chhuah rualin test tan vek a ni lo - chu chu hmuhchhuah a nih huna mi kum a zirin a ni.

Kum 18 hnuai lam tan , doctor-te chuan:

• Kum 7 atanga kum tin thyroid ultrasound neih thin a ni .
• Kum tin taksa enfiahna bakah vun enfiahna neih thin .
• A neurodevelopmental evaluation a ni a .
• Intestinal hamartomas hriat hmasak nan kum tin hemoglobin test neih a ngai thin.

BRRS hi ven theih a ni em?

Ni lo, BRRS hi ven theih a ni lo. Gene mutation avanga genetic condition a ni. BRRS vei te hian genetic counseling an dawng thei a ni. Hei hian hriselna enkawlna leh fa neih chungchangah thutlukna dik siam turin a pui thei a ni.

`(BRRS)` ka neih chuan eng nge ka beisei theih ang?

BRRS vei tan chuan mi hrang hrangah prognosis a inang lo hle. Mi thenkhat chuan symptoms leh signs an nei tlem thei - thenkhat chuan symptoms an nei tlem emaw, an nei lo emaw pawh a ni thei. BRRS vei te tan hian an nunphung zawng zawng tihchangtlun thei tur management option tam tak a awm a. Entirnan , physical therapy leh speech therapy te hi a ni .

Sawi tawh ang khan ``(BRRS)`` vei te chu cancer chi hrang hrang screening neih reng tur a ni. I doctor hnenah engtikah nge screening i tan tur tih leh eng chen nge i neih tur tih zawt rawh.

Bannayan-Riley-Ruvalcaba Syndrome leh dam rei zawng

Researcher-te chuan BRRS vei te dam rei zawng zat chu an la hre chiang lo. Dik tak chuan BRRS vei te hi an dam rei zawk tih finfiahna a awm lo. Mahse, BRRS vei te hi an naupan laiin cancer chi hrang hrang an vei theihna a sang hle. Hemi avang hian mi thenkhat chuan cancer vangin dam rei zawk an nei thei a ni.

Engtikah nge ka doctor ka hmuh ang?

I chhungte hnai tak tak (entir nan, unau, nu leh pa, fate) te hian `(BRRS)` an neih chuan i doctor hnenah `(PTEN)` genetic testing chungchang i zawt tur a ni. `(PTEN)` test hian `(PTEN)` gene mutation i neih leh neih loh leh cancer thenkhat screening neih reng tur nge tih hriat theih a ni.

Nangmah emaw i fa emaw chu BRRS vei nia hriat i nih chuan i doctor chuan i natna lan chhuah dan tur a enkawl ang a, i nunphung a tichangtlung ang. Cancer screening neih fo tur zat an hrilh bawk ang che.

Doctor hnenah eng zawhna nge ka zawh ang?

Nangmah emaw, i hmangaih tak emaw BRRS vei nia hriat i nih chuan, i doctor zawh theih tur zawhna thenkhat chu hetiang hi a ni:

• Keimah emaw ka fa emaw ah hian `(PTEN)` gene mutation hmuhchhuah theih a awm em?
• Symptom leh chhinchhiahna langsar tak tak a awm em?
• Genetic test ka nei tur em ni?
• Ka chhungte hnai berte pawh hian genetic testing an nei tur em ni?
• Chu chuan chhûngkaw ruahmanna chu engtin nge a nghawng?
• Eng enkawlna emaw enkawl dan tur nge i rawt?
• Cancer screening test hi engzat nge ka neih ang?

Take-Home Thuchah a ni

Bannayan-Riley-Ruvalcaba syndrome (BRRS) hi i PTEN gene-a mutation avanga lo awm, genetic condition hmuh tur awm lo tak a ni. Symptoms hi a inang lo thei hle a, a na lo atanga na tak thlengin a awm thei bawk. BRRS hi enkawlna bik a awm lo a, mahse a enkawlna ber chu symptom management a ni. BRRS vei tan chuan cancer chi hrang hrang screening neih fo a pawimawh a, chung zingah chuan hnute, nausen pum, thyroid, leh kal cancer te pawh a tel.

Counselor emaw social worker emaw nena inbiakna hian hetiang diagnosis dawn avanga rilru natna lo awm thinte hmachhawn kawngah hian a \angkai hle thei a ni. Chutiang bawka thil tawn tawh midangte nena inhmu turin local emaw online support group emaw i zawm thei bawk. Lungngai suh, nangmah chauh i ni lo. Damdawi lam thurawn leh puihna dik tak i dawn chuan he natna hi i enkawl thei a, nun tha tak i hmang thei bawk.

` Bannayan-Riley-Ruvalcaba Syndrome, BRRS, PTEN gene, hamartoma, genetic disorder, cancer hlauhawmna, macrocephaly, hmasawnna tlai, genetic natna, cancer hlauhawm, hmasawnna tlai