01 thận phản âm dày và các nguyên nhân đột biến gen thường gặp

THAN PHAN AN DAY VA CAC
NGUYEN NHAN DOTBIEN GEN

THUONG GAP

BS NGUYEN ANH DUY- 8S HA TO NGUYEN

BENH VIEN THOU

HINH ANH SIEU AM THAN BINH THUONG

f (uy 1: Than phan dm day hon gan

va khong phan bet dug vO -tu)

Sau 17 twin Phan đượt vb ty

trén sigu dm va thémc0 phadnm

“| dGng dang ogc kém hom so voi gan

Than trong trong ci dt may én tt ché cho dm (harmonics

HINH ANH SIEU AM THAN BÌM THƯỜNG

‘. cnet

M1 '1 etd vot)

Sau 17 tua Phan bet

duc vo ty trénsiéu
am va thén tổ phn âm

am Gong dahnod gKem

_ hon soviganlich

THAN PHAN AM DAY

+ Than phan dm day Koi cd hi dm

gan/lich

+Tan suat 16/1000

+ Than phan dm day trad sinh la mot
| bev hen cote do
nhigu nguyén nn chi khGng don
thuan la do loan sé,

trl Ki km theo thigu ining,

Tass, Gagnadoux ME, Aubry MC, GubleMCr, DumeY, Donmergues M, Prenatal agnosis of blateal lated etal ypeechagel Kidneys pos ret e ong tet m outcome?

| ol pen 128-05
ipo. RS 4

name

Hyperechogenie Fetal Kidneys: Uncertain Diagnosis

and Unpredictable Future?

Cpt Ast!) Ang Ana: Bal Nena» Arora Rupa’

Sebyl Ren RiauPuna

+ Bieu hin sin Wy hodng qua

ý +Bénh Htc nghn dung nu di

| *Lécbhoi
0
' in trì
4, Fetal Med, (September 1020) 1228-233 + HOi ching phat ign uá mít

+ Thuyen tc tinh mach thin

+ Hoi ching thn hu bd sinh

Rece17iNovveembedr :2023 | Revised: 26 Decembe2r029 | Accepted: 29 December 2023 PRENATAL WILEY
Đôi 101002/p46617
DIAGNOSIS
REVIEW

Fetal hyperechoic kidneys: Diagnostic considerations and
genetic testing strategies

Christine B, Hertenstein’ | KrisA. tMiellenr!đ | Judy A. Estroffđ |

Karin J, Blakemore! â

Nhom don gen: Copy number variants

«ADPKD + 1Iql2 eltandoHnNFIb

-Cécbénh cliopathis Kd: Mecle! Grube Jatbef,Rrltlel. deletion, Wol-Hschhom (4p

«Loan dng thn do thu ACE Lfbchi tisomy 13,21,

- Hcg ht tn qud mde: Beckwith Wiedemann gyndome (BN 4X0

Perlman syndromaen,d Simpson-Golab-Behmel syndrome, Ki CMV hue hye

«Cat hung don gen kh Khoi mh thin,

= THUONG GAP: ADPKD, ARPKD, HNELB

1, BENH THAN DA NANG DI TRUYENTROI

Autosomal Dominant Polycystic Kidney Disease (ADPKD]

Autosomal Dominant +P bi ht tong nm nh thn da

I nang én quan dti ruyé,
+ Tn sat 1/1000 va that biu bin
ThNEnglM!ed 2008; 359:1477-1485 bén & tuoi trung nin,

“Thug du chin don mu cud qu
2, dau qu 3 hog sau sinh

+ Sinh bénh hoc: Gial doan phi binh

hag i sack

he thong thu th tng sinh adn

bith bb pi dy
tng phn bettyvd,

+ A‘DLa(463): 854; PK (laụdi|4

1 BEN THANDA NANG DI TRUYTEONI

Autosomal Dominant Polyystic Kidney Disease (ADPKD)

+ Than ln via, vo than phan dm day (nang vi

thé} -> tang phd bet vo tu
* Nut Oi inh thutng

Di trayen tri: PKDA/ PKD2, ti bone

Ning (hey 2 Nidy
CV And ng
iy ae

IONIAN

lo!

IW.WW0U1

barge

Di trayen tris PKOA/PKDE tt home DAC IE

+ Than tang am
vo-> tang pb
tujvo

- li 8h

thuong

+ Bol: nang

lận

M03

Út Povey dna Sn

sa [WÔMMM |RAMMỢ MA

1 BENH THAN DA NANG DI TRUYEN LAN

Autosomal Recessive Polycystic Kidney Disease (ARPKD)

: + Bénh hig te: 1/40,000, ning

+H: [F nhdt rong nom bénh than da nang

ow, +Dac trum: than da nang ha ben kém
theo no hod nang gan
(
+Ditruyn in: bo + me mang gen
‘AA ( A OA
+Dat ign; PKHD! (6942) va DZPLL
vt) REL CRE MƯONG
MhỤC WAM UWẾMM — lMKM lu?) nguyen nhan hau het ARPKD,

Kida Kis Kho linh

{old Mol Sl, 2001 Jun 2042) 6828, PMCID: PMC8286086

Pubiahed online 2021 un 17, do 108302 a3 PMID 4204582

Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease

Aan Vat Goat aia A Gri Gara

Can CDPB:

-PKDA-2(nhdm chinh pay ADPKD),

: «T9C2/PKD4 (Tuberous Sclerosis

Complex)

-INHÉ

-Nhom Cliopathies nhu' Bardet-
Biedl (BBS), Joubert (1, Meckel
syndrome (MIS),
Nalini
waited
ws

Curd Gar nar Nl abhi fda Reese Poei Os tl 2c 2004503

1 BENH THAN DA NANG DI TRUYEN LAN

Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Than rt lin (>44 SD}, phan dm dy mat hn bit vd tu tô
nantghủ |lễn ông pop

1 BENH THAN DA NANG DI TRUYEN LAN

Autosomal Recessive Polycystic Kidney Disease (ARPKO}

Than rt in (44 SD), phan dm dy, mt phn bet vo ty, mhiu nang nhd

» À_ TM

ọ II) Nhớ
\ mw., DI,
‘ MW 1M II) iM eT
TT

MU bps wee ino W
. eT tL
`
MjÍlll] 10t
a
A

) BENH THAN DA NANG DITRUYEN LAN

Autosomal Recessive Polycystic Kidney Disease (ARPKD}

+ Tht ln, pan de day (> +40], mt phn big vo tu,
dn ng gop, bang quang khang thay,

+ Thuting dike tidy iv i

2, BENH THAN DA NANG DI TRUYEN LAN

Autosomal Recessive Polycystic Kidney Disease (ARPKD)}

Than phan dm day + nghi dén dung mat trong gan

3, THAN DA NAVNA GTIEU DUONG

Renal Cyst And Diabetes (RCAD)

+ 50% do mat dogn NST 17912 chia gen: HNFIB (CF)

‘Din hinh

1, Than phan dm dy matting phn bet tu v, ++ nang,

Oi inh thug, 4 dn bé thn

2, MODY5

3, Bt thutmgthan knh

+ Him din tén dn nh thang cu

{, Rasmussen M, Sunde 12412 deleton and duplication yndrome In Denmark clnkal cohort of 8 pant and review ofthe erature, AJ Med GenetA, 2016 Now;

A Gila, Achiron Prenatal diagnos of 17942 deletion syndrome: rom fetal hyperechogenic kidneys to hgh ri for autism, Prenat Diag, 2016 Now

3, THAN DA NAVNA GTIEU DUONG

Renal Cyst And Diabetes (RCAD)

Thang inl sdn: Thal 2 tub, 2thf echdoy sng ang thn thy ang

NOTA VANST

toh

3, THAN DA NAVNA GTIEU DUONG

Renal Cyst And Diabetes (RCAD)

UT nnd km ay

cM Gn UC Un)
NC
"pgtt bid i ln pl ga lội

4, MECKEL GRUBER SYNDROME

* Ben di trageyn einntr NST thugtl,ti phat 25H

+ {inh diéngbm tam chitg: 2 thén da nang, thodt indo va da ngon