Case 54: Point-of-Care Ultrasound in Polycystic Kidney Disease with Hepatic Involvement

EJ Curtis, Colleen Sweeney, Colleen Campbell

A 70-year-old man with a past medical history of hypertension, obstructive hypertrophic cardiomyopathy, atrial fibrillation status-post Watchman procedure, and end-stage renal disease secondary to polycystic kidney disease (status-post renal transplant in 2014, complicated by chronic kidney disease stage 5 of the transplanted kidney) was brought to the emergency department after being found on the floor by his daughter. On arrival, the patient had generalized weakness, lightheadedness, and epigastric pain.

Vital signs: BP: 77/60 mmHg | HR: 103 | RR: 20 | T 37.3C

On physical exam, the patient appeared chronically ill and had scattered ecchymoses on bilateral upper extremities which he attributed to the recent fall. He also had bilateral lower extremity pitting edema which he says is stable since stopping furosemide. His abdomen was tender to palpation in the epigastric region with no rebound or guarding.

A bedside ultrasound was performed to evaluate for the source of abdominal pain.

Figure 1. Hepatorenal Junction

Figure 2. Splenorenal Junction

Figure 3. Multi-cystic liver parenchyma

Discussion:

Blood cultures grew out pseudomonas aeriginosa.  Patients with PKD can get septic from infected cysts however the source of his infection was not clear.

Polycystic kidney disease (PKD) is the most common inherited cause of end stage renal disease (ESRD) with the most common form, Autosomal Dominant PKD (ADPKD) affecting around 500,000 people in the United States and between 1 in 400 to 1 in 1000 births¹. ADPKD is a progressive, multisystem disease associated with extrarenal manifestations of disease most associated with cysts in other organs such as the liver, seminal vesicle, and pancreas though connective tissue disorders including mitral valve prolapse, intracranial aneurysms, and abdominal hernias are also commonly reported². Transplant of kidney is usually more successful after nephrectomy of native kidneys, with 1 year survival >90% and median survival of 18.7 years.

Polycystic liver disease (PLD), the most common extrarenal manifestation of PKD, is characterized by the presence of cysts in greater than 50 percent of the liver³. Between 75 and 90 percent of patients with ADPKD have associate PLD⁴. Notably, there is an inherited form of PLD, which is distinct from PKD but it is less common than PKD and is rarely associated with concurrent renal cysts ⁵.

The presence of innumerable hepatic cysts, as demonstrated in this case, provides a valuable sonographic teaching example for learners. It is critical to recognize that while renal disease is the primary driver of morbidity and mortality in ADPKD, extrarenal manifestations such as polycystic liver disease, intracranial aneurysms, and cardiac valvular disease are important contributors to patient outcomes and should be monitored and included as part of the differential diagnoses when these patients present to the emergency department. 

References:

1. Mahboob M, Rout P, Leslie SW, Bokhari SR. Autosomal Dominant Polycystic Kidney Disease. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. Updated March 20, 2024. Available from: NCBI Bookshelf 
2. Pirson Y. Extrarenal manifestations of autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis. 2010 Mar;17(2):173–80. doi:10.1053/j.ackd.2010.01.003 
3. Henriques MSM, Villar EJM. Chapter 17: The Liver and Polycystic Kidney Disease. In: Li X, editor. Polycystic Kidney Disease [Internet]. Brisbane (AU): Codon Publications; Nov 2015. doi:10.15586/codon.pkd.2015.ch17 
4. Harris PC, Torres VE. Polycystic kidney disease. Annu Rev Med. 2009;60:321–37. doi:10.1146/annurev.med.60.101707.125712 
5. Cnossen WR, Drenth JPH. Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. Orphanet J Rare Dis. 2014 May 1;9:69. doi:10.1186/1750-1172-9-69