Polycystic kidney disease (PKD) is a genetic disorder characterized by the formation of cysts in the kidneys, leading to enlargement and potential renal failure. There are two main types: autosomal dominant (ADPKD), which affects adults, and autosomal recessive (ARPKD), which typically manifests in infants. Management includes blood pressure control, treatment of complications, and possible surgical interventions, with severe cases possibly necessitating dialysis or transplantation.

1. PKD
POLYCYSTIC KIDNEY DISEASE
Blessing O.J. (RN, MD3)
Lilian I (MD4)
Henry (Pre-Med2)

3. DEFINITION
• Polycystic disease of the kidney (PKD) is a disorder
in which major portion of the renal parenchyma is
converted into cysts of varying size .
• Fluid-filled cysts distributed over the kidney results
in massive enlargement of the kidneys.

4. EPIDEMIOLOGY
Over 12.5 million people globally

5. TYPES
• 1. Autosomal Dominant Polycystic Kidney Disease(ADPKD)
• Inherited as a Autosomal Dominant Disease…
most common in Adult
• 2. Autosomal Recessive Polycystic Kidney Disease (ARPKD)
• Inherited as a Autosomal Recessive
Disease….most common in infants
[ADPKD(50:50 Chance) and ARPKD(1:4 Chance)]

6. FEATURES
Feature ADPKD ARPDK
Severity Less severe Most severe
Occurrence Most common Less common
Onset Onset age >30 Infants and children
Prognosis Half get ESRD by 60 Infant renal failure
Appearance Large nodules Smaller nodules
Sequlae Cerebral aneurysm Liver fibrosis,death

7. GENETIC BASIS/ETIOLOGY
Gene Protein
ADPKD1 Polycystin 1
ADPKD2 Polycystin 2
ARPKD Fibrocystin/Polyductin
ADPKD is a multisystem disorder
characterized by multiple, bilateral
renal cysts associated cysts in the
other organs such as liver , pancreas,
and arachnoid membrane
ARPKD is a rare inherited condition
with childhood onset of manifestation

8. SIGNS AND SYMPTOMS
1. Abdominal Pain: flank or back (most common initial complaint).
2. Dull aching and an uncomfortable sensation of heaviness may result from a large polycystic liver or
enlargement of one or more cysts.
3. Bleeding inside the cyst or lead to gross hematuria with passage of clots or a perinephric hematoma
4. Hypertension
5. UTI (e.g, acute pyelonephritis, infected cysts, perinephric abscess)
6. Nephrolithiasis and associated renal colic
7. Rarely, a coincidental hypernephroma
8. Palpable, bilateral flank masses: In advanced ADPKD
9. Nodular hepatomegaly: In severe polycystic liver disease
10. Rarely, symptoms related to renal failure (eg, pallor, dry skin, edema)
11. Decrease in urine-concentration
12. Increased plasma vasopressin etc

9. 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.
• Regulates the morphologic configuration of
epithelial cells.

10. PATHOGENESIS OF CYST IN POLYCYSTIC
KIDNEY DISEASE

11. PATHOGENESIS OF MAJOR SYMPTOMS IN POLYCYSTIC
KIDNEY DISEASE
HYPERTENSION

12. BLEEDING
• Renal cysts with excessive angiogenesis of fragile vessels
stretched across their distended walls.
• Little trauma makes these vessels may leak blood into the
cyst, this makes it to enlarge rapidly, causing excruciating
pain.
• Continuous bleeding may lead to rupture into the collecting
system, which presents with gross hematuria.

13. DIAGNOSIS
1. Routine laboratory studies include the following
 Serum chemistry profile, including calcium and phosphorus
 CBC count from cysts
 Urinalysis
 Urine culture
2. Genetic testing
 This may be performed young adults potential kidney donors
with negative ultrasonographic.

14. 3. Imaging
• Ultrasonography: Technique of choice for case and routine screening patients.
• 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 and to monitor kidney size after treatment to assess progress
• MRA: Magnetic resonance angiogram is not routine but useful in viewing blood
flow patterns
MRA is Indicated in:
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

15. ULTRASONOGRAPHY: DIAGNOSTIC CRITERIA FOR ADPKD1

16. MANAGEMENT
• Control Blood Pressure using ACEIs or ARBs
• Treat Urinary Tract and Cyst Infections using Gyrase inhibitors (eg, ciprofloxacin,
chloramphenicol, clindamycin, levofloxacin); dihydrofolic acid inhibitors
(TMX/SMP_Septrim)
• Treat hematuria: Possibly analgesic plus copious oral hydration
• Reduce abdominal pain produced by enlarged kidneys
• Control abnormalities related to renal failure (Oedema, ascites, weakness,
cephalic involvement etc)
• Prevent cardiac valve infection in patients with intrinsic valve disease
A. Symptomatic Medication (No Specific Medication for ADPKD):

18. • Surgical drainage: Ultrasonographically guided puncture
• Open-/fiberoptic-guided surgery: For excision/drainage of the outer walls
of cysts to ablate symptoms
• Partial hepatectomy: Tomanage massive hepatomegaly
• Liver transplantation: In cases of portal hypertension due to polycystic
liver or hepatomegaly with nonresectable areas
• Nephrectomy: Last resort for pain control in patients with inaccessible
cysts in the renal medullae; bilateral nephrectomy in patients with
severe hepatic involvement
B. Surgical intervention in ADPKD includes the following

19. B. End Stage Management
 Hemodialysis
 Peritoneal dialysis
 Renal transplantation

20. COMPLICATIONS
https://www.slideshare.net/drsamianik/autosomal-dominant-polycystic-kidney-disease-72091730

21. REFERENCES
1. Davidson principle and practice 22nd edition
2. http://emedicine.medscape.com/article/244 907-workup
3. https://www.slideshare.net/drsamianik/autosomal-dominant-polycystic-
kidney-disease-72091730
4. https://www.slideshare.net/hermycmkindy/polycystic-kidney-disease-
54353445
5. https://www.slideshare.net/peddanasunilkumar/poly-cystic-kidney-
disease
6. Pathophysiology of polycystic kidney disease,experimental studies by
Jeron Nauta