Renal calculi in a patient with Erdheim-Chester disease

Area of Science:

• Histiocytosis
• Rare Diseases
• Oncology

Background:

• Erdheim-Chester Disease (ECD) is a rare, non-inherited disorder characterized by lipid-laden monocyte infiltration.
• It primarily affects long bones, causing cortical sclerosis and distinctive radiographic findings.
• Extraskeletal involvement occurs in up to 50% of cases, notably in retroperitoneal and renal tissues.

Observation:

• This report details a patient with long-standing ECD and extensive extraskeletal manifestations.
• Significant renal infiltration by ECD was observed.
• The patient presented with left hydronephrosis secondary to a proximal ureteric calculus.

Findings:

• The case illustrates a rare complication of Erdheim-Chester Disease involving the urinary tract.
• Ureteric obstruction by a calculus in a patient with known ECD was identified.
• The interplay between ECD-related renal infiltration and stone formation leading to hydronephrosis is presented.

Implications:

• This case underscores the importance of considering ECD in patients with unexplained renal complications.
• It highlights the potential for ECD to cause significant urinary tract obstruction.
• Further research into the management of renal involvement in ECD is warranted.