1. 34 YO WHITE FEMALE WITH ABDOMINAL PAIN
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/ people in the US
Accountable for 10-12% all ESRD patients receiving hemodialysis
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. Posterior acoustic enhancement effect
FIGURE 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 30-59 yo 60+ 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,
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
Alkis M. Pierides, et al. Autosomal dominant polycystic kidney disease—type 2. Ultrasound, genetic and clinical correlations. Nephrol. Dial. Transplant. (2000) 15 (2):
Emedicine.com. (2010). Polycystic kidney disease. Retrieved: October 10, from
Emedicine.com. (2008). Autosomal Dominant Polycystic Kidney Disease. Retrived: October 9, 2010 from imaging
Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet. 2007;369(9569):

28. THANK YOU !!!