Multisystemic Beryllium Disease: An Exceptional Case Revealed by a Urinary Tract Granulomatosis

• Published in: International journal of molecular sciences 2024-08, Vol.25 (15), p.8166
• Main Authors: Jacobs, Lucas, Taghavi, Maxime, Fallas, Jennifer, Geers, Caroline, Libertalis, Mark, Smet, Julie, Nortier, Joëlle, Mesquita, Maria do Carmo Filomena
• Format: Article
• Language: English
• Subjects: Antigens; Asthma; Berylliosis - diagnosis; Berylliosis - pathology; Beryllium; Biopsy; Chronic kidney failure; Creatinine; Granulomas; Health aspects; Humans; Kidney cancer; Kidney diseases; Lungs; Lymphatic system; Male; Medical imaging; Middle Aged; Pantoprazole; Pathogenesis; Patients; Plasma; Sarcoidosis; Skin; Toxicity; Tuberculosis; Urine; Urogenital system; Workers
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms25158166

Chronic beryllium disease (CBD), or berylliosis, is an interstitial lung disease caused by the chronic inhalation of finely particulate beryllium, frequently mistaken for sarcoidosis. It is rarely associated with skin nodular lesions, asymptomatic granulomatous hepatitis or calcium nephrolithiasis. To date, it has never been reported as a diffused multi-organ granulomatous disease. A 60-year-old Pakistani man, a former excavation worker with ancient history of suspected sarcoidosis, underwent a left nephroureterectomy for suspected papillary kidney carcinoma. The histopathological analysis showed a benign non-necrotic granulomatous infiltration of the renal pelvis and ureter. Six months later, he suffered from two consecutive episodes of acute kidney failure. Bladder biopsies found similar noncaseous granulomatosis and kidney biopsies showed interstitial nephritis. Known for suspected asthma, sleep apnea, and usual interstitial pneumonia, the patient would regularly consult for episodes of pyrexia, chills, nocturnal coughing, and wheezing. As kidney function gradually worsened, he ultimately started hemodialysis and was transferred to our facility. A positive blood beryllium lymphocyte proliferation test confirmed the diagnosis of CBD. This original report is the first description of multi-organ berylliosis with diffused urothelial granulomatosis and pseudo-tumor. The patient's pulmonary disease is minimal compared with renal and urinary tract involvement, eventually responsible for end-stage kidney disease. Berylliosis usually responds to glucocorticoids. This case report highlights the importance of evoking the diagnosis of CBD in the presence of any granulomatosis, even extra-thoracic, especially if associated with pulmonary symptoms, however atypical.