Hi chng polyp Juvenile

I.TNG QUAN:
Hi chng polyp Juvenile (JPS) l mt tnh trng di truyn c c trng bi s
hin din ca cc polyp thuc u m tha trong ng tiu ha. U m tha khng
phi ung th m l khi m bnh thng (lnh tnh) hnh thnh trong rut hoc
nhng ni khc. Nhng khi ny c gi l polyp, pht trin bn trong mt cu
trc c th, chng hn nh rut. Polyp Juvenile (polyp Juvenile) cp n loi
polyp c tm thy sau khi kim tra di knh hin vi, khng phi l tui m mi
ngi c chn on vi JPS.
Polyp Juvenile thng pht trin ngi trong tui 20. S lng cc khi u mt
ngi c trong i c th nm trong khong t khong 5 n hn 100. Hu ht cc
khi u l lnh tnh (khng phi ung th), nhng n c th lm tng nguy c ung th
ng tiu ha (d dy, rut non, i trng v trc trng) trong gia nh c JPS.
Nu khng c iu tr, nhng khi u ny c th pht trin thnh ung th i trng.
C ba loi hi chng polyp Juvenile c m t da trn cc du hiu v triu
chng ri lon. Polyp Juvenile s sinh c trng bi khi polyp xut hin trn
khp ng tiu ha trong giai on ny. Polyp Juvenile s sinh l loi nghim trng
nht ca ri lon v li hu qu xu nht. Tr em trng hp ny c th mang
mt tnh trng gi l bnh rut mt protein. Tnh trng ny dn n tiu chy nng,
khng th tng cn v pht trin khng theo tiu chun v st cn. Polyp Juvenile
ph bin c chn on khi khi u pht trin khp ng tiu ha. i
vi polyposis Juvenile coli, bnh nhn ch c polyp trong rut gi m thi. Nhng
ngi thuc loi polyposis Juvenile ph bin v polyposis Juvenile coli thng pht
trin cc khi u t nh.
Hu ht cc khi u Juvenile l lnh tnh, nhng khi c c hi, cc polyp c th bin
thnh ung th (c tnh). Ngi ta c tnh rng nhng ngi b hi chng polyp
Juvenile c 10-50% nguy c pht trin ung th ng tiu ha. Cc loi ph bin
nht ca ung th nhng ngi mc hi chng polyp Juvenile l ung th i trc
trng.
Nhng ngi mc JPS c nguy c cao cho ung th i trc trng, d dy, rut non,
v tuyn ty. Cc c tnh tng th nguy c ung th lin quan vi JPS l 9% n
50%, nhng nhng ri ro i vi tng loi c th ca ung th cha c xc nh.
II. TRIU CHNG:
Hu ht cc polyp Juvenile xy ra trong i trng v trc trng, tn s ca polyp
trong d dy v rut non t hn 20%. Hi chng Polyp Juvenile tng nguy c ung
th i trc trng (68% ngi 60 tui) v ung th ng tiu ha trn (10%).
Hi chng polyp Juvenile cng c th xy ra trong hi chng Cowden (bu c a
nhn khng c, tuyn gip v ung th v), v hi chng Bannayan-Riley-Ruvalcaba
(tt u ln, tng sc t ca c quan sinh dc, lm chm pht trin tm thn). Cc
polyp trong JPS c mt khp ng tiu ha nhng chim nhiu i trng. tr
em, biu hin lm sng ph bin nht l i - trc trng chy mu, xy ra tui
trung bnh l 9 tui. Vic mt mu c th l tim n vi s xut hin ca triu chng
thiu mu thiu st hoc xut huyt tiu ha cng khai. Ngoi ra, tiu chy v mt
protein cng c bo co. Mt s lng ng k tr em c JPS c tm thy
c thm nhng bt thng khc, bao gm tt u to, rng tc, h mi, vm ming,
bnh tim bm sinh, bt thng ng sinh dc, v chm pht trin tm thn. Polyp
c th gy au bng v tiu chy. Khong 15% nhng ngi mc hi chng polyp
Juvenile c nhng bt thng khc, chng hn nh xon rut (rut xoay bt
thng), tt tha ngn, v bt thng ca c quan sinh dc hoc ng tit niu,
v him hn na l sa trc trng.


III. NGUYN NHN:
JPS l mt tnh trng di truyn. iu ny c ngha rng nguy c polyp v ung th
c th c truyn t th h ny sang th h trong mt gia nh. Hai gen c lin
quan n JPS l BMPR1A v SMAD4. BMPR1A v SMAD4 lm vic vi nhau gip
iu ha s tng trng t bo v phn chia (ph bin) v hot ng ca cc gen
c bit. Cc t bin trong gen BMPR1A hoc gen SMAD4 ph v cc tn hiu t
bo v vai tr can thip ca chng vo vic iu ha hot ng gen v pht trin t
bo. Thiu quy nh ny th cc t bo pht trin v phn chia mt cch khng kim
sot c, c th dn n hnh thnh polyp. Mt s t bin (thay i) trong gen
BMPR1A cng nh gen SMAD4 lm cho ngi c nhiu kh nng pht trin cc
polyp Juvenile v ung th ng tiu ha trong cuc i ca h.Nhng, khng phi
tt c cc gia nh c JPS u c t bin trong gen BMPR1A hoc SMAD4. Cc gen
khc ang c nghin cu v lin h cu chng vi JPS.

Thng thng, mt ngi c tha hng 2 nhn t di truyn, mt t ngi b,
mt t ngi m. JPS di truyn theo tnh trng tri. V vy, t bin ch cn xy ra
mt trong 2 nhn t di truyn s tng nguy c mc bnh ny. iu ny c ngha
mt ngi c mt gen t bin th c th cho i ci t bin hoc ci bnh thng.
V vy, tr em c b hay m b t bin th c 50% kh nng b di truyn t bin
. Anh, em hay b m ca ngi b t bin cng c 50% kh nng c t bin
tng t.
IV. CHN ON:
T chc Y t Th gii t ra tiu ch chn on hi chng polyp Juvenile l:
1. Hn nm polyp Juvenile i trng hoc trc trng.
2. Polyp Juvenile trong on tiu ho d dy- rut.
3. Bt k s lng cc khi u Juvenile trong mt ngi c tin s gia nh b polyp
Juvenile.
Chn on JPS c gi nh nu cc triu chng ca mt ngi v tin s gia nh
ph hp vi mt trong ba loi c lit k trn. Nhng ngi c JPS c th lm
xt nghim mu tm s t bin trong gen BMPR1A hoc gen SMAD4. Nu mt
t bin gen c th c tm thy, cc thnh vin khc trong gia nh c th c
chn on vi JPS nu h c kim tra v c cng mt t bin gen.
Cng c kh nng rng c nhng gen khc lin quan n JPS cha c xc nh,
v vy khi c kt qu th nghim mu m tnh (ngha l gen t bin khng c
tm thy) th khng nht thit rng mt ngi khng b JPS . V vy, vic i khm
chuyn gia y t chuyn v di truyn hc, chng hn nh mt c vn di truyn, di
truyn hc y t (bc s c o to trong cc bnh di truyn), c khuyn khch
i vi nhng ngi c tin s gia nh hoc cc triu chng gi n JPS.
Hi chng polyp Juvenile xy ra vi t l 1: 100.000 trn ton th gii.
Tin lng: Cc khi u n c khng c nguy c ung th. Tuy nhin, nhiu khi u
(> 5), hi chng bnh polip i trng mang 10% nguy c pht trin thnh ung th.
iu ny ch yu l do cc polyp Juvenule pht trin polyp m tuyn.
V. IU TR:
Ung th ph bin nht c lin quan vi JPS l ung th rut, ung th c th xy ra
trong d dy, rut non, v tuyn ty. Nu khng loi b cc polyp i trng, khong
20% ngi tui 35 vi JPS s pht trin ung th rut gi. Khong 70% nhng
ngi c JP s pht trin ung th rut gi tui 60. Bi v nguy c ung th rut l
qu cao nhng ngi vi JP, phu thut loi b i trng c th c khuyn
khch.
H Trng Hng Hnh (Y2010A)
(Tng hp t Internet)
Bin tp: Phan Hunh Tin t