Patient will present as → a 34-year-old male with hematuria and flank/abdominal pain. He denies any recent trauma. He reports a history of recurrent urinary tract infections, and his family history is significant for his mother, who died of a "brain bleed" at age 42. Vital signs are significant for a blood pressure of 158/105 mmHg. On physical exam, there is a late systolic crescendo murmur with a midsystolic click and tenderness upon palpation of the abdominal flanks. An ultrasound of the abdomen shows bilateral anechoic renal cysts with posterior enhancement.
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Polycystic kidney disease is characterized by the growth of numerous cysts in the kidneys. The cysts are made of epithelial cells from the renal tubules. The cysts replace the mass of the kidneys and reduce function, leading to kidney failure
"Polycystic kidney disease frequently presents with abdominal or flank pain with microscopic or gross hematuria. A family history is present in up to 75% of cases. Whenever patients present with resistant hypertension and a palpable abdominal mass, the diagnosis of ADPKD should be entertained."
Adult polycystic kidney disease (ADPKD) is one of the most common human genetic disorders (autosomal dominant)
- > 30 years old, + family history, and abdominal mass (flank)
- In a young patient with hypertension and flank/abdominal pain, think PKD
- Accounts for 5-10% of patients with end-stage renal disease
- 10% have brain aneurysms (so be worried about the complaint of the worst headache ever), 50% of patients end up on dialysis
- Cardiovascular abnormalities
- mitral valve prolapse
- left ventricular hypertrophy
The diagnostic test of choice is ULTRASONOGRAPHY, which shows fluid-filled cysts, CT scan will show large renal size and multiple thin-walled cysts
- Ultrasound is also indicated to test family members of patients
- Anemia may be noted on complete blood count
- Urinalysis: proteinuria, hematuria, and commonly, pyuria and bacteriuria
- Genetic studies for PKD1 and PKD2 can detect the presence of mutation before symptoms develop
There is no cure for ADPKD - treatment is supportive to ease symptoms and prolong life
- Control hypertension BP < 130/80 with an ACE-inhibitor or angiotensin receptor blocker (ARB)
- Infections should be treated vigorously with antibiotics
- Dialysis or transplantation should be considered when renal insufficiency becomes life-threatening
Osmosis | |
Autosomal dominant polycystic kidney disease (ADPKD) is an autosomal dominant condition. The majority of cases are thought to result from genetic mutations in the PDK1 and PKD2 genes which are located on chromosomes 16 and 4, respectively. The disease is characterized by cystic enlargement of the renal tubules. Patients are generally asymptomatic early in the disease, with the most common initial presenting symptom being hypertension. Nearly all patients with ADPKD experience progressive deterioration in renal function leading to chronic kidney disease. Patients are also at risk for various extrarenal manifestations including liver cysts, mitral valve prolapse, and intracranial aneurysms. Nephroprotective agents like ACE inhibitors or ARBs are helpful but many patients will require hemodialysis.
Play Video + QuizQuestion 1 |
adult polycystic kidney disease | |
renal cyst Hint: Renal cysts and renal cell carcinoma generally present unilaterally. | |
horseshoe kidney Hint: A horseshoe kidney (fusion of the renal tissue) may be palpated bilaterally; otherwise, the patient is asymptomatic. | |
renal cell carcinoma Hint: Renal cysts and renal cell carcinoma generally present unilaterally. |
Question 2 |
urinary tract infection Hint: Urinary tract infection would not fit this patient scenario, as she has no dysuria, and UA is negative for leukocytes, leukocyte esterase, nitrites, and bacteria | |
glomerulonephritis Hint: In the absence of RBC casts and clinical signs and symptoms, this would not be glomerulonephritis. | |
renal calculi Hint: Renal calculi would not cause abdominal fullness and hypertension and would be symptomatic on presentation. | |
urinary sample contamination Hint: The urine sample is not contaminated as there are no squamous epithelial cells reported. | |
polycystic kidney disease |
List |
References: Merck Manual · UpToDate