Polycystic kidney diseases (PKD) are inherited disorders characterized by bilateral kidney cyst formation, primarily including autosomal dominant (ADPKD) and autosomal recessive (ARPKD) varieties. ADPKD is associated with mutations in PKD1 and PKD2 genes, leading to progressive kidney damage and associated complications, which can result in end-stage renal disease by age 52 for PKD1 and 70 for PKD2. Diagnosis typically involves family history, ultrasound findings, and blood tests, while management focuses on blood pressure control, progression slowing, and treatment of renal complications.

1. POLYCYSTIC KIDNEY DISEASES
Presenter
Dr. Dirgha P Guragain

2. POLYCYSTIC KIDNEY DISEASES
It is an inherited disease that involves formation of bilateral kidney
cysts.
TWO TYPES
1. AD-PKD
2. AR-PKD

3. AUTOSOMAL DOMINANT PKD
ADPKD is a multisystem disorder characterized by multiple ,
bilateral renal cysts associated with cysts in other organs such
as liver, pancreas and arachnoid membrane.
Prevalence 1:1000
ETIOLOGY
Genetic mutation in PKD1 and PKDK2 genes that encodes
Polycystin 1 and Polycyctin 2 proteins.

4. PATHOGENESIS
Altered calcium flux in tubular
cell
Altered mechanosensation in tubular
cell
Altered Tubular epithelium growth and differentiation
Mutation in Polycystin 1 and 2
Abnormal ECF formation
Fluid secretion;
Cells proliferation
CYSTS FORMATION

5. Pathogenesis
Multiple Renal cysts
compression of kidney parenchyma Vascular compression and ischemia
Damage of remaining normal kidney Increase in renin production
Progression of Kidney damage Increase in angiotensin
End stage renal disease Early Hypertension

6. Clinical features
 Asymptomatic initially
 Early Hypertension ( 20 years onwards)
 Nocturia, Polyuria ,Hematuria
 Palpable kidney mass
 Abdominal or Flank Pain
 Recurrent UTI
 Recurrent stone formation
 Features of CKD
 Progression of kidney damage ESRD
 ESRD at 52years (PKD1) , at 70 years (PKD2)

7. Associated Features
 Hepatic cysts ( m/c association) usually asymptomatic
 Pancreatic and Spleenic cysts
 Colonic diverticulas
 Abdominal wall hernias
 Mitral/aortic regurgitation
 Mitral Prolapse
 Berry aneurysms

8. Investigations
 Diagnosis
 Family history, Clinical findings and Ultrasound.
• Ultrasound Diagnostic criteria
1. Age 15-39; minimum of 3 unilateral or bilateral kidney
cysts
2. Age 40-59; at least 2 cysts in each kidney
3. Age 60 and above; at least 4 cysts in each kidney
(CT scan and MRI can also be done )
• Molecular Analysis
DNA Sequencing for PKD1 and PKD2 mutation

9. Investigation for disease manifestation
o Blood tests
• CBC, PBS, ESR, CRP
• RFT: Urea, Creatinine
• Electrolytes: Sodium, Potassium, Calcium,
phosphate
• Serum renin
o Urine examination
• Dipstick for hematuria, proteinuria, leukocytes
esterase’s test.
• Microscopy : cells , casts and crystals
o CT scan KUB, for stones
o Renal scan using (MAG3, DMSA)

10. Complementary Investigations
CT , MRI abdomen for liver , pancreatic cysts
Echocardiography for MR,AR, mitral prolapse
Barium enema and colonoscopy for diverticula
CTA ,MRA for Berry’s aneurysms

11. MANAGEMENT
• Blood Pressure Control
Target : <130/80mmhg
 Salt restriction
 ACE inhibitors, ARB
 CCB
• Slow progression of disease
 Vasopressin V2 receptor antagonist ( Tolvaptan)
• Treatment of renal complications
 Electrolytes balance, Fluid balance
 Correction of acid base balance
 Correction of anemia
• RRT and Renal transplantation.