67
H th ng ti t ni u
Remember cystic disease as
CAAR
•
Cystic renal dysplasia.
•
Autosomal dominant polycystic
kidney disease (ADPKD).
•
Autosomal recessive polycystic
kidney disease (ARPKD).
•
Cystic diseases of the
Renal medulla.
B nh nang t y th n
•
B nh nang t y th n tu i thanh
thi u niên.
•
B nh nang m c ph i: thư ng là
do ch y th n.
•
X p t y th n.
•
U nang đơn gi n.
ADPKD
What is ADPKD?
This is a dominantly inherited polycystic
disease found in adults.
Causes
Mutations in the genes encoding a membrane
protein called polycystin result in this condition.
Two genes code for this protein:
•
PKD1 on chromosome 16 (encodes polycystin 1).
•
PKD2 on chromosome 4 (encodes polycystin 2).
Signs and symptoms
•
Pain (due to renal cyst haemorrhage).
•
Hypertension.
•
Haematuria.
•
Palpable bilateral flank masses.
•
Hepatomegaly.
Investigations
•
Bloods: FBC, U&Es, calcium and phosphate, PTH.
•
Urinalysis and culture.
•
Imaging: ultrasound scan is diagnostic.
•
Genetic screening and monitoring of blood
pressure.
Đi u tr
•
B o t n: h tr b nh nhân.
•
Đi u tr thu c:
Đi u tr tăng huy t áp.
Đi u tr kháng sinh cho nhi m trùng
đư ng ti t ni u.
•
Ph u thu t: Gi m áp nang.
Bi n ch ng
•
Phát tri n thành t n thương th n m n tính.
•
Nh NCST:
Nang gan.
Ch ng phình m ch.
Sa van hai lá.
Túi phình m ch v gây xu t huy t dư i
màng nh n.
ARPKD
What is ARPKD?
This is a recessively inherited polycystic disease
found in children presenting with varying levels of
kidney and liver disease.
Causes
•
PKHD1 on chromosome 6.
Signs and symptoms
•
Hypertension.
•
Those of chronic kidney injury.
•
Chronic respiratory infections.
•
Those of portal hypertension: ascites, caput
medusae and oesophageal varices.
•
Failure to thrive.
•
Recurrent UTI.
•
Polyuria.
Investigations
•
Antenatal screening is diagnostic.
•
Bloods: FBC, U&Es, LFTs.
•
Urinalysis and culture.
•
Imaging: ultrasound scan (shows enlarged
kidney with or without oligohydramnios),
CT scan, MRI scan.
Đi u tr
•
B o t n: H tr cha m và b nh nhân
•
Đi u tr thu c:
Thông khí và nghi m pháp oxy dài h n.
Đi u tr tăng huy t áp (thu c c ch men
chuy n angiotensin).
Dùng kháng sinh cho nhi m khu n ti t ni u.
Dùng l i ti u n u quá t i d ch.
•
Ph u thu t:
C t th n.
Ghép gan th n đ ng th i.
Bi n ch ng
•
Nang gan
.
•
Xơ gan b m sinh .
•
Tăng sinh ng m t.
MAP 4.6
Cystic Disease
Map 4.6 B nh nang th n
Chapter_04.indd 67
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