Erdheim-Chester disease는 포말 대식세포에 의한 전신 염증 반응을 일으키는 드문 질환이다. 본 증례는 만성신부전으로 발현하여 원인을 찾는 과정에서 Erdheim-Chester disease를 진단하게 되었다. 만성신부전의 원인으로 Erdheim-Chester disease는 드문 질환이나 원인미상의 후복막섬유화증이 있는 경우 Erdheim-Chester disease에 대한 가능성을 고려하는 것이 중요하다고 판단된다.

Erdheim-Chester disease is a rare non-langerhans cell histiocytic disorder of an unknown cause that may associate with multisystem, rapidly fatal, infiltrative disease. We report here on a case of Erdheim-Chester disease in a 45-year-old man who presented with chronic renal failure. The patient visited a local clinic due to renal failure that was accidentally diagnosed on a routine health examination. At that time, abdominal computed tomography revealed retroperitoneal fibrosis and bilateral hydronephrosis. However, he did not visit hospital for further evaluation. After 1 year, he visited our clinic due to exertional dyspnea that had developed several months previously. The chest and abdominal CT showed interstitial pneumonitis and pleural effusion and there was progressed hydronephrosis and perirenal fibrosis. He was diagnosed with Erdheim-Chester disease based on the characteristic findings of pleural biopsy (interstitial fibrosis, infiltration of macrophge, CD68-positive but S-100 negative). The patient was treated with insertion of a double J catheter and immunesuppression with prednisolone and azathioprine. Erdheim-Chester disease is a rare disease, but it should be considered in those patients displaying chronic renal failure with retroperitoneal fibrosis.(Korean J Med 73:216-222, 2007)