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

• 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

• 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

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

• 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

Autosomal Dominant Polycystic Kidney Disease(ADPKD)

Clinical Presentation

• Palpable mass• Abdominal pain• Gross hematuria• Hypertension• Renal failure

Complications

• Intracystic hemorrhage• Renal stones• Chronic pain symptoms• UTI• Cyst infection

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

Causes of death

The main causes of death in ADPKD are: • Uremia (ESRD)• Atherosclerosis affecting coronary,

intracranial arteries• Sudden rupture of intracranial aneurysms• Sepsis

Gross appearance

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.

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

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

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

• No exposure to radiation or contrast material• Inexpensive• Also useful for evaluating extra-renal cysts in

the abdomen (liver, pancreas)

Diagnosis: Ultrasonography

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.

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

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

• 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

Diagnosis: Intravenous Urography

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

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)

• Surgical drainage and decompression of large cysts is effective for pain relief

• ESRD patients require hemodialysis or renal transplantation

Treatment

References1. E., William, and Clyde A. Fundamentals of diagnostic radiology. 3rd ed. Lippincott

Williams & Wilkins, 2007. 949-9502. 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.

3. 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.

4. Emedicine.com. (2010). Polycystic kidney disease. Retrieved: October 10, 2010 from http://emedicine.medscape.com/article/244907-overview

5. Emedicine.com. (2008). Autosomal Dominant Polycystic Kidney Disease. Retrived: October 9, 2010 from http://emedicine.medscape.com/article/376995-imaging

6. Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet. 2007;369(9569):1287-1301.

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