Subset of renal cystic disorders in which cysts are distributed throughtout the cortex and medulla of both kidneys.

1. PKD
HAMISI
MKINDI,MD5,SFUCHAS

2. Epedemiology
12.5 million people in the world

3. Defn
 Subset of renal cystic disorders in which cysts
are distributed throughtout the cortex and
medulla of both kidneys.
Numerous and are fluid-filled, resulting in
massive enlargement of the kidneys.

4. Types
 There are two types of PKD: autosomal
dominant polycystic kidney disease (ADPKD)
and the less-common autosomal recessive
polycystic kidney disease (ARPKD).
The two major forms of polycystic kidney
disease are distinguished by their patterns of
inheritance.
ADPKD(50:50 Chance) and ARPKD(1:4 Chance)

5. ADPKD vs ARPKD
ADPKD ARPDK
Most common Most severe
Onset age >30 Infants and children
Half get ESRD by 60 Infant renal failure
Cerebral aneurysm Liver fibrosis,death

6. Pathophysiology
The main feature of ADPKD is a bilateral progressive
increase in the number of cysts, which may lead to
ESRD. Hepatic cysts, cerebral aneurysms, and cardiac
valvular abnormalities also may occur.
Defect on PKD1 and 2.
PKD1 and PKD2 are expressed in most organs and
tissues of the human body.
The proteins that are encoded by PKD1 and PKD2,
polycystin 1 and polycystin 2, seem to function
together to regulate the morphologic configuration of
epithelial cells.

7. Pathophysiology
A decrease in urine-concentrating ability is an
early manifestation of ADPKD. The cause is not
known. Plasma vasopressin levels are
increased; this increase may represent the
body's attempt to compensate for the
reduced concentrating capacity of the kidneys
and could contribute to the development of
renal cysts, hypertension, and renal
insufficiency

8. Pathophysiology-Hypertension
Cyst-induced bilateral renal ischemia, with
subsequent activation of the renin–
angiotensin–aldosterone system, is an
important factor in the initiation of
hypertension in polycystic kidney disease.

9. Pathophysiology-Bleeding
Renal cysts in ADPKD are associated with
excessive angiogenesis evinced by fragile
vessels stretched across their distended walls.
When traumatized, these vessels may leak
blood into the cyst, causing it to expand
rapidly, resulting in excruciating pain. If
bleeding continues, then the cyst may rupture
into the collecting system, causing gross
hematuria.

10. SIGNS AND SYMPTOMS
Pain—in the abdomen, flank, or back—is the
most common initial complaint, and it is
almost universally present in patients with
ADPKD. Dull aching and an uncomfortable
sensation of heaviness may result from a large
polycystic liver.

11. PRESENTATION
The pain caused by :
 Enlargement of one or more cysts
 Bleeding: May be confined inside the cyst or lead to
gross hematuria with passage of clots or a perinephric
hematoma
 UTI (eg, acute pyelonephritis, infected cysts,
perinephric abscess)
 Nephrolithiasis and renal colic
 Rarely, a coincidental hypernephroma

12. PRESENTATION
 Berry aneurysm
Examination in patients with ADPKD may demonstrate the
following:
 Hypertension: One of the most common early
manifestations of ADPKD.
 Palpable, bilateral flank masses: In advanced ADPKD
 Nodular hepatomegaly: In severe polycystic liver disease
 Rarely, symptoms related to renal failure (eg, pallor, dry
skin, edema)

13. TESTING
Routine laboratory studies include the following:
 Serum chemistry profile, including calcium and phosphorus
 CBC count from cysts
 Urinalysis
 Urine culture
 Genetic testing may be performed, in which the major indication is
for genetic screening in young adults with negative
ultrasonographic findings who are being considered as potential
kidney donors.

14. IMAGING
Radiologic studies used in the evaluation of ADPKD include the
following:
 Ultrasonography: Technique of choice for patients with
ADPKD and for screening patients' family members; useful for
exploring abdominal extrarenal features of ADPKD (eg, liver
cysts, pancreatic cysts)

15. IMAGING
 CT scanning: Not routine; useful in doubtful pediatric cases or
in complicated cases (eg, kidney stone, suspected tumor)
 MRI: Not routine; helpful in distinguishing renal cell
carcinoma from simple cysts; criterion standard to help
determine renal volume for clinical trials when testing drugs
for ADPKD; best imaging tool to monitor kidney size after
treatment to assess progress
 MRA: Not routine; preferred imaging technique for diagnosing
intracranial aneurysms.

16. IMAGING-US
Ultrasonographic diagnostic criteria for ADPKD1
are as follows:
 At least 2 cysts in 1 kidney or 1 cyst in each
kidney in an at-risk patient younger than 30 years
 At least 2 cysts in each kidney in an at-risk patient
aged 30-59 years
 At least 4 cysts in each kidney for an at-risk
patient aged 60 years or older

17. IMAGING-US
Ultrasonographic diagnostic criteria for ADPKD
in patients with a family history but unknown
genotype are as follows:
 Three or more (unilateral or bilateral) renal
cysts in patients aged 15-39 years
 Two or more cysts in each kidney in patients
aged 30-59 years

18. IMAGING
 Indications for MRA are as follows:
 Family history of stroke or intracranial aneurysms
 Development of symptoms suggesting an
intracranial aneurysm
 Job or hobby in which a loss of consciousness
may be lethal
 Past history of intracranial aneurysms

19. MANAGEMENT
 No specific medication is available for ADPKD. However,
pharmacotherapy is necessary to accomplish the following:
 Control blood pressure: Drugs of choice are ACEIs or ARBs
 Control abnormalities related to renal failure
 Treat urinary tract infections
 Treat cyst infections: Gyrase inhibitors (eg, ciprofloxacin, chloramphenicol,
clindamycin, levofloxacin); dihydrofolic acid inhibitors (TMX/SMP)
 Treat hematuria: Possibly analgesic plus copious oral hydration
 Reduce abdominal pain produced by enlarged kidneys
 Prevent cardiac valve infection in patients with intrinsic valve disease

20. Mx-SURGICAL OPTION
Surgical intervention in ADPKD includes the following:
 Surgical drainage: Usually in conjunction with ultrasonographically guided
puncture; in cases of infected renal/hepatic cysts not responding to
conventional antibiotics
 Open-/fiberoptic-guided surgery: For excision/drainage of the outer walls
of cysts to ablate symptoms
 Nephrectomy: Last resort for pain control in patients with inaccessible
cysts in the renal medullae; bilateral nephrectomy in patients with severe
hepatic involvement
 Partial hepatectomy: To manage massive hepatomegaly
 Liver transplantation: In cases of portal hypertension due to polycystic
liver or hepatomegaly with nonresectable areas

21. MANAGEMENT
• Patients with ADPKD who progress to end-
stage renal disease may require the following
procedures:
 Hemodialysis
 Peritoneal dialysis
 Renal transplantation

22. Summary
• PCKD 12.5 mill people.
• Two types: ADPKD and ARPKD
• ADPKD most common,asymptomatic to >30
• Sx:Pain,hematuria,HTN,palpable kidneys with
nodular surface,nodular hepatomegally, berry
aneurysm and mitral valve prolapse can occur.
• Dx:Family Hx,clinical findings and US exam.
• No specific medication available.

23. REFERENCES
• 1.http://emedicine.medscape.com/article/244
907-workup
• 2.Davidson principle and practice 22nd edition
• 3.Pathophysiology of polycystic kidney
disease,experimental studies by Jeron Nauta