Systemic karyomegaly with primary pulmonary presentation

Summary Systemic karyomegaly is a distinct disorder characterized by progressive renal failure and enlarged, bizarre renal tubular epithelial cells. We report the first case of systemic karyomegaly with primary pulmonary presentation and present the first detailed characterization of the karyomegalic cells in lung tissue. A 33-year-old woman was evaluated for chronic and progressive restrictive lung disease, ultimately necessitating single-lung transplantation. Her post-transplant course was marked by graft dysfunction, respiratory decline and renal failure culminating in her death 97 days post-transplant. At autopsy, karyomegalic cells were identified in her kidneys, prompting a careful examination of her native lung and other tissue. Karyomegalic cells were identified in the alveolar epithelium and airway walls. Viral studies were negative. DNA ploidy studies revealed an abnormal ploidy status of the karyomegalic cells. The identification and characterization of systemic karyomegaly with symptomatic lung involvement expands the differential diagnosis for relatively young patients presenting with interstitial lung disease.