Adult polycystic kidney disease, review for radiologist

1. CASE 1
10/1/2014 thaotram 1

2. • Case History: A 78-year-old patient presented
with history of hypertension and renal failure.
10/1/2014 thaotram 2

3. 10/1/2014 thaotram 3

4. both kidneys with multiple cysts.
10/1/2014 thaotram 4

5. Ultrasound findings
• Both the kidneys are enlarged in size, multiple
cysts. Few of the cysts show calcification at
their periphery. Overall echogenicity of both
kidneys is little increased.
• No cyst seen in liver and pancreas
10/1/2014 thaotram 5

6. Diagnosis:
• Autosomal dominant polycystic kidney
10/1/2014 thaotram 6

7. WHAT IS Polycystic kidney disease
• is a cystic genetic disorder of the kidneys
• PKD or PCKD, also known as polycystic kidney
syndrome
10/1/2014 thaotram 7

8. POTTER CLASSIFICATION
• Type 1: Autosomal recessive polycystic kidney
disease (ARPKD)  Infantile Polycystic Kidney
Disease
• Type 2: Multicystic dysplastic kidney
(Multicystic renal dysplasia)
• Type 3: Autosomal dominant polycystic kidney
disease (ADPKD)  Adult Polycystic Kidney
Disease
10/1/2014 thaotram 8

9. Autosomal dominant polycystic kidney
disease
• Definition: ADPKD is one of the most common
forms of polycystic kidney disease.
• Polycystic kidney disease (PKD) is a genetic
disorder characterized by the growth of
numerous cysts in both kidneys. The cysts are
filled with fluid.
• The progressive expansion of PKD cysts slowly
replaces much of the normal mass of the
kidneys, and can reduce kidney function and
lead to kidney failure.
10/1/2014 thaotram 9

10. Cause
•
+ mutations in the genes PKD1 or PKD2, which
encode the proteins polycystin-1 and
polycystin-2
+ PKD1 being located on the short arm of
chromosome 16 (85%)
+ PKD2 on the long arm of chromosome 4
(15%)
10/1/2014 thaotram 10

11. Pathophysiology
• Recent evidence suggests that the primary
abnormality leading to cyst formation is related
to defects in primary cillia.
• In the kidney, primary cilia have been found to
be present on most cells of the nephron,
projecting from the apical surface of the renal
epithelium into the tubule lumen.
• The defect of polycystin-1, polycystin-2, and
fibrocystin, the proteins associated with ADPKD
and ARPKD, within the primary cilia and basal
body of renal tubular epithelia and subsequent
cilia formation may lead to PKD
10/1/2014 thaotram 11

12. • While it is not known how defects in the
primary cilium lead to cyst development, it is
thought to possibly be related to disruption of
one of the many signaling pathways regulated
by the primary cilium, including intracellular
calcium, cyclic adenosine monophosphate
(cAMP), or planar cell polarity (PCP)…
10/1/2014 thaotram 12

13. In general:
- Cysts arise from the nephrons and collecting
tubules; microdissection reveals that the cysts
communicate directly with the nephrons and
collecting tubules.
- Islands of normal parenchymal renal tissue
are interspaced between the cysts
10/1/2014 thaotram 13

14. 10/1/2014 thaotram 14

15. 10/1/2014 thaotram 15

16. Clinical symptoms and signs
• The most common symptoms are pain in the
back and the sides (between the ribs and
hips), and headaches.
• The dull pain can be temporary or persistent,
mild or severe.
10/1/2014 thaotram 16

17. Epidemiology
• Mean age at diagnosis: 43 years (neonatal / infantile
onset has been reported)
• Present at birth: 1/400 to 1/1,000 babies, and it
affects approximately 400,000 people in the United
States.
• 0.5 – 1% in population, 8 – 10% in transplanted or
dialysis patients (Siêu âm tổng quát – thầy Quân)
• Male : Female = 1:1
• Onset of cyst formation:
– 54% in 1st decade
– 72% in 2nd decade
– 86% in 3rd decade
10/1/2014 thaotram 17

18. Associated with
• Cysts in: liver (25-50%), pancreas (9%)
• Aneurysm: saccular "berry" aneurysm of
cerebral arteries (3-13%)
• Mitral valve prolapse
• Hypertension (50-70%)
• Azotemia
• Hematuria, proteinuria
• Lumbar / abdominal pain
10/1/2014 thaotram 18

19. 10/1/2014 thaotram 19

20. COMPLICATIONS
• Hypertension (++)
• Gross hematuria
• Infection (+++)
• Kidney stones
• Kidney failure: 50% by age 60
10/1/2014 thaotram 20

21. 10/1/2014 thaotram 21

22. How do we diagnose this disease?
• By Ultrasonography
• By X-ray
• By CT
• By MRI
10/1/2014 thaotram 22

23. Ultrasonography
• Multiple cysts typically in both kidneys
• The cysts are numerous and fluid-filled, good
through transmission of the sound wave.
• Multiple cysts in cortical region
• Diffusely echogenic when cysts small (children)
• Massive enlargement of the kidneys.
• Echogenicity of both kidneys is increased
• Normal parenchymal renal
• Renal contour poorly demarcated
•  go to clip
10/1/2014 thaotram 23

24. 10/1/2014 thaotram 24

25. STANDARD
• The diagnostic criteria for individuals who have a
50 percent risk of developing ADPKD include:
At least two unilateral (cysts in one kidney) or
bilateral (cysts in both kidneys) cysts in
individuals who are younger than age 30.
At least two cysts in each kidney in individuals
who are between 30 and 59 years.
At least four cysts in each kidney in individuals
who are 60 years old or older.
10/1/2014 thaotram 25

26. X-ray
• Plain radiographic findings are normal in the
early stages of ADPKD
• Enlargement of the kidneys: soft-tissue
masses that displace intra-abdominal organs.
Renal enlargement is often asymmetrical,
normal renal outlines cannot be traced.
• Cysts may calcify in a curvilinear, ringlike, or
amorphous manner. The presence of renal
calculi may signify urinary tract infection
10/1/2014 thaotram 26

27. • Plain radiograph of the
kidney, ureters, and
bladder in a 50-year-old
woman with autosomal
dominant polycystic
kidney disease.
• The kidneys are enlarged
with multiple curvilinear
and ringlike calcifications
arising from the renal
cyst.
• The surgical clip from
renal transplant is seen
projected over the left
iliac wing.
10/1/2014 thaotram 27

28. • The pelvocaliceal
systems
demonstrate
bilateral, diffuse
irregularity and
splaying.
• The collecting
system may be
elongated, distorted,
and attenuated.
These changes are
seen in the image
below.
10/1/2014 thaotram 28

29. Computed Tomography
• The cysts in (ADPKD) are fairly well-defined,
round or oval masses with low attenuation
values similar to those of water
10/1/2014 thaotram 29

30. Unenhanced axial computed tomography scan of the abdomen
in a 45-year-old woman with autosomal dominant polycystic
kidney disease. The scan shows numerous cysts of different sizes
involving the kidneys, liver, and pancreas
10/1/2014 thaotram 30

31. Contrast-enhanced computed tomography scan in a 45-year-old
woman with ADPKD(same patient as in the previous image)
clearly demonstrates the cysts in the head of the pancreas
10/1/2014 thaotram 31

32. 10/1/2014 thaotram 32

33. Magnetic Resonance Imaging
• Renal cysts show a homogeneous, low to
intermediate signal intensity on T1-weighted
images and a homogeneous, high signal
intensity on T2-weighted images.
• Cysts have thin, imperceptible walls. Renal
cysts do not enhance with gadolinium-based
contrast material.
10/1/2014 thaotram 33

34. and more
• "Swiss cheese" nephrogram = multiple lesions
of varying size with smooth margins
• Polycystic kidneys shrink after beginning of
renal failure, after renal transplantation, or on
chronic hemodialysis
10/1/2014 thaotram 34

35. Differential Diagnosis
• Multiple simple cysts
+ less diffuse,
+ no family history
10/1/2014 thaotram 35

36. • Multicystic dysplastic kidney
• (a ) hydronephrotic and
dysplastic kidney with
echogenic and undifferentiated
parenchyma and multiple
dysplastic cortical cysts.
 (b) cysts of varying size have no
parenchymal outer rim, the
lack of a normal collecting
system, but some central
echogenic‐dysplastic residual
renal parenchyma,
differentiation from a severe
ureteropelvic junction
obstruction (UPJO).
 (c ) Contrast‐enhanced CT (late
phase) of a segmental cystic
nephroma.
• d) usually associated with
abnormal pelvocaliceal system
10/1/2014 thaotram 36

37. • Localized renal
cystic disease:
(rare)
• involves only one
kidney at a time
• The condition is
typically nonfamilial,
does not cause renal
functional
impairment and does
not require specific
management
10/1/2014 thaotram 37

38. • Infantile PCKD : usually microscopic cysts < 3mm
10/1/2014 thaotram 38

39. • Von Hippel-Lindau disease
+ cerebellar hemangioblastoma,
+ retinal hemangiomas,
+ occasionally pheochromocytomas
• Acquired uremic cystic disease
+ kidneys small
+ no renal function
+ transplant
10/1/2014 thaotram 39

40. The goals of treatment for patients
with PKD
• Managing and better controlling the
symptoms of the disease.
• Preventing progression of the disease to end-stage
kidney disease.
• Enabling the patient to maintain a reasonably
good quality of life.
• Prolonging survival
10/1/2014 thaotram 40

41. What we must remember
• Meaning age: middle-age
• Include many clinical complications:
hypertension, gross hematuria, infection, kidney
stones, kidney failure…
• Family history
• Multiple marcoscopy cysts in both kidneys,
significantly or unsignificantly
• Enlarged in size of both kidneys
• Cysts in other organs  have to seek
• Associate with CT Scanner and other means.
10/1/2014 thaotram 41

42. • Thank you for listening 
10/1/2014 thaotram 42