1. CYSTIC DISEASE OF KIDNEY Dr S Chakradhar 1

2. Classification of renal cyst Adult polycystic disease (Autosomal dominant disease) Adult polycystic disease (Autosomal dominant disease) Childhood polycystic disease (Autosomal recessive disease) Childhood polycystic disease (Autosomal recessive disease) Cystic renal dysplasia - Disorganized development of kidney characterized by cyst (primitive glomeruli, tubules & mesenchyme) Cystic renal dysplasia - Disorganized development of kidney characterized by cyst (primitive glomeruli, tubules & mesenchyme) Medullary cystic disease - limited to medullary pyramids and papillae. Medullary cystic disease - limited to medullary pyramids and papillae. Acquired cystic disease – dialysis associated / uraemic Acquired cystic disease – dialysis associated / uraemic Simple cyst - Non neoplastic cyst lined by single cuboidal or flattened epithelium Simple cyst - Non neoplastic cyst lined by single cuboidal or flattened epithelium Dr S Chakradhar 2

3. ADULT POLYCYSTIC KIDNEY DISEASE (APCKD) Autosomal dominant Autosomal dominant Pathological defect thought to be due to: Results from mutations in either the PKD-1 or PKD-2 gene. Abnormally weak basement membrane leading to segmental distention of tubule or vessel and cyst formation Abnormally weak basement membrane leading to segmental distention of tubule or vessel and cyst formation Proliferation of tubular epithelium Proliferation of tubular epithelium Dr S Chakradhar 3

4. Abnormal basement membrane also predisposes to cyst formation in other organs Abnormal basement membrane also predisposes to cyst formation in other organs liver - 33% liver - 33% cerebral artery aneurysm - 10% cerebral artery aneurysm - 10% other associations: Diverticulosis and Mitral valve prolapse other associations: Diverticulosis and Mitral valve prolapse less common: pancreas, spleen, thyroid, ovary, endothelium, seminal vesicles, and aorta less common: pancreas, spleen, thyroid, ovary, endothelium, seminal vesicles, and aorta Dr S Chakradhar 4

5. Clinical features: Polycystic changes are bilateral and present any time from early childhood to as late as 80 years of age Polycystic changes are bilateral and present any time from early childhood to as late as 80 years of age The kidneys are normal at birth, symptoms are rare before 20Years The kidneys are normal at birth, symptoms are rare before 20Years kidneys may enlarge to 10 times normal volume kidneys may enlarge to 10 times normal volume ❏ symptoms Often asymptomatic; discovered incidentally on imaging Often asymptomatic; discovered incidentally on imaging Acute abdominal pain/lumbar pain Acute abdominal pain/lumbar pain Hematuria, UTI Hematuria, UTI Rarely extra-renal presentation (e.g. Ruptured berry aneurysm) Rarely extra-renal presentation (e.g. Ruptured berry aneurysm) ❏ signs HTN (up to 75% of adults) HTN (up to 75% of adults) ± Palpable kidneys ± Palpable kidneys Dr S Chakradhar 5

6. Investigations : BUN, Creatinine : To assess for progressive renal failure BUN, Creatinine : To assess for progressive renal failure Urine RME: To assess for Hematuria Urine RME: To assess for Hematuria Abdomen USG (best modality): Enlarged kidneys, multiple cysts throughout renal parenchyma, lobulated kdney Abdomen USG (best modality): Enlarged kidneys, multiple cysts throughout renal parenchyma, lobulated kdney CT abdomen with contrast CT abdomen with contrast Dr S Chakradhar 6

7. Diagnosis: Positive family history Positive family history Ultrasound: cysts are usually detectable by age 20 Ultrasound: cysts are usually detectable by age 20 Differential diagnosis: Multiple simple cysts (not progressive like APCKD) Differential diagnosis: Multiple simple cysts (not progressive like APCKD) Dr S Chakradhar 7

8. Complications: UTI UTI Infected cysts most common in women due to ascending infection Infected cysts most common in women due to ascending infection Focal compression of intra-renal arteries by cysts  increased renin production  HTN Focal compression of intra-renal arteries by cysts  increased renin production  HTN If untreated will ACCELERATE progression to ESRD If untreated will ACCELERATE progression to ESRD Nephrolithiasis in 5-15% of APCKD (may form due to poor drainage from distorted calyceal system)  usually Urate stones Nephrolithiasis in 5-15% of APCKD (may form due to poor drainage from distorted calyceal system)  usually Urate stones Dr S Chakradhar 8

9. Management Goal: to preserve renal function: Must treat UTI early Must treat UTI early Screen for HTN, treat aggressively with Antihypertensives (e.g. ACE inhibitors) Screen for HTN, treat aggressively with Antihypertensives (e.g. ACE inhibitors) Adequate hydration to prevent stone formation Adequate hydration to prevent stone formation Instrumentation of the Genito Urinary tract should be avoided Instrumentation of the Genito Urinary tract should be avoided Should avoid contact sports due to greater risk of injury if kidneys are large Should avoid contact sports due to greater risk of injury if kidneys are large As ESRD develops, treat with renal replacement therapy As ESRD develops, treat with renal replacement therapy Screen for cerebral aneurysms Screen for cerebral aneurysms Must provide genetic counselling: 50% chance of transmission by affected parents Must provide genetic counselling: 50% chance of transmission by affected parents Dr S Chakradhar 9

10. CYSTIC DISEASE of Renal Medulla MEDULLARY CYSTIC DISEASE Rare Autosomal recessive disorder Rare Autosomal recessive disorderPathologically Cysts restricted to the renal medulla or corticomedullary border, as well as a triad of Cysts restricted to the renal medulla or corticomedullary border, as well as a triad of Tubular atrophy, tubular basement membrane disintegration, and interstitial fibrosis Tubular atrophy, tubular basement membrane disintegration, and interstitial fibrosis Often results in ESRD during Adolescence/Childhood Often results in ESRD during Adolescence/Childhood Cysts difficult to image due to small size Dr S Chakradhar 10

11. MEDULLARY SPONGE KIDNEY Multiple cystic dilatations in the papillary collecting ducts (medulla) Multiple cystic dilatations in the papillary collecting ducts (medulla) Presents in the 4 th to 6 th decades usually as passage of renal stones Presents in the 4 th to 6 th decades usually as passage of renal stones Benign with respect to the development of renal insufficiency Benign with respect to the development of renal insufficiency Increased incidence of renal calculi, infections, and HTN Increased incidence of renal calculi, infections, and HTN Nephrocalcinosis may be seen on X-ray, Medullary sponge defect seen on IVP Dr S Chakradhar 11