CUONG NGUYEN, MSIV

1. CUONG NGUYEN, MSIV 34 YO WHITE FEMALE WITH ABDOMINAL PAIN OSUMC Diagnostic Radiology OCTOBER 15, 2010

2. HPI • 34 year old White female who presented to the hospital with a complaint of abdominal pain and fever x 2 days. • (+) Decreased appetite • (-) Nausea, vomiting, diarrhea

3. Internal medicine was consulted and initially started her on Rocephin 1g qd and did urine and blood cultures • Patient continued to have fever on Rocephin so a CT of the abdomen and pelvis was ordered

7. Dx: Autosomal dominant polycystic kidney disease(ADPK) • Renal cyst infection secondary to UTI was suspected • IR placed a catheter into a cyst and drained purulent and bloody fluid. • Fluid culture grew E. Coli sensitive to ciprofloxacin • Patient was then started on IV ciprofloxacin and her fever and abdominal pain resolved

8. Autosomal Dominant Polycystic Kidney Disease(ADPKD) • Most common inherited renal disorder • Characterized by the formation and progressive enlargement of renal cysts which which are destructive to renal parenchyma and often lead to renal failure (ESRF) in late middle age • Autosomal dominant!!!!!!! • Affects 1/400-1000 people in the US • Accountable for 10-12% all ESRD patients receiving hemodialysis • 200-400 thousand persons with ADPKD in US • ~ 600 new cases per year

9. Autosomal Dominant Polycystic Kidney Disease(ADPKD) • Cyst formation probably begins in utero and symptoms may rarely be present in newborns • Cysts initially involve only portions of the nephrons • Asymptomatic and renal function is retained until 4th- 5th decade of life • Almost all patients experience renal failure by 80 years of age

10. Clinical Presentation • Palpable mass • Abdominal pain • Gross hematuria • Hypertension • Renal failure

11. Complications • Intracystic hemorrhage • Renal stones • Chronic pain symptoms • UTI • Cyst infection

12. Extrarenal Manifestations of ADPKD • Cerebral aneurysms (20%) • Hepatic cysts (60%) • From biliary epithelium • Pancreatic cysts (10%) • Cardiac • Mitral valve prolapse, bicuspid aortic valve, aortic aneurysms, aortic dissections • Colonic diverticula • Abdominal wall and inguinal hernia

13. Causes of death The main causes of death in ADPKD are: • Uremia (ESRD) • Atherosclerosis affecting coronary, intracranial arteries • Sudden rupture of intracranial aneurysms • Sepsis

14. Gross appearance

15. Pathophysiology • Caused by mutations of PKD1 and PKD2 genes on chromosomes 16 and 4 respectively • PKD1 codes for Polycystin-1 protein – function not known; thought to be involved in cell-cell, cell-matrix interactions. • PKD2 codes for Polycystin-2 protein – cation channel involved in regulation of intracellular Ca2+ level.

16. Pathophysiology • These defects result in altered tubular epithelial growth and differentiation • Abnormal extracellular matrix • Increased cell proliferation • Increased fluid secretion • Formation of cysts • PKD1 mutations are more common and account for 90% of all ADPKD cases • PKD1 associated with earlier onset renal failure

17. Differentials • Autosomal recessive polycystic kidney disease • Multiple simple cysts • Von Hippel-Lindau (VHL) disease • Tuberous sclerosis • Acquired uremic cystic kidney disease (hemodialysis) • Medullary sponge kidney • Multicystic dysplastic kidney

18. Diagnosis: Ultrasonography • Ultrasonography is the most widely used technique to diagnose ADPKD • Findings: Diffuse hyperechogenicity, enlarged kidneys, and cysts, usually bilateral • Can detect cysts 1 – 1.5 cm • 99% sensitivity for at risk patients >20 yo • Higher false negatives in people < 20yo • Not recommended as a routine diagnostic procedure in patients < 14yo

19. Diagnosis: Ultrasonography • No exposure to radiation or contrast material • Inexpensive • Also useful for evaluating extra-renal cysts in the abdomen (liver, pancreas)

20. FIGURE 36.48. Autosomal Dominant Polycystic Disease. The kidney of a 57-year-old patient with a family history of cystic renal disease shows replacement of the renal parenchyma with innumerable cysts of varying size. Both kidneys were greatly enlarged.

21. Diagnosis: Computed tomography (CT) • More sensitive than US • Can detect smaller cysts (0.5cm) • Involves radiation exposure • More expensive • Not used routinely for diagnosis or follow up studies • More useful in unclear or more complicated cases in children

22. Diagnosis: MRI • More sensitive than either US or CT • More useful in distinguishing renal cell carcinoma from cyst • Used to monitor kidney size after treatment to assess progress • Not routinely used due to its high cost

23. Diagnosis: Intravenous Urography • Used to be a widely used technique to diagnosed ADPKD • Involves contrast (nephrotoxic) • Only helpful in the diagnosis of advanced ADPKD with distortion of renal calyces • No longer indicated

24. Diagnostic criteria • At risk patients <30 yo • at least 2 renal cysts (unilateral or bilateral) • 30-59 yo • At least 2 cysts in each kidney • 60+ yo • At least 4 cysts in each kidney

25. Treatment • Treatment is primarily supportive care • Control of HTN is important to slow disease progression • ACE-I, ARB • Treating complications of renal failure • Hyperkalemia, hyperphosphatemia, hypocalcemia, acidosis • Treating UTI and renal cyst infections • Avoidings nephrotoxic agents (NSAIDS)

26. Treatment • Surgical drainage and decompression of large cysts is effective for pain relief • ESRD patients require hemodialysis or renal transplantation

27. References • E., William, and Clyde A. Fundamentals of diagnostic radiology. 3rd ed. Lippincott Williams & Wilkins, 2007. 949-950 • D. Ravine, et al. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. The Lancet. Volume 343, Issue 8901, 2 April 1994, Pages 824-827. • Alkis M. Pierides, et al. Autosomal dominant polycystic kidney disease—type 2. Ultrasound, genetic and clinical correlations. Nephrol. Dial. Transplant. (2000) 15 (2): 205-211. • Emedicine.com. (2010). Polycystic kidney disease. Retrieved: October 10, 2010 from http://emedicine.medscape.com/article/244907-overview • Emedicine.com. (2008). Autosomal Dominant Polycystic Kidney Disease. Retrived: October 9, 2010 from http://emedicine.medscape.com/article/376995- imaging • Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet. 2007;369(9569):1287-1301.

28. THANK YOU !!!