Renal failure as first manifestation of familial sarcoidosis

Abstract

To the Editors: Sarcoidosis is a systemic illness of unknown origin characterised by the presence of epithelioid, noncaseating granulomas in multiple organs, most commonly the lungs, eyes and skin. Renal disease is uncommon; however, it is an indication to perform a diagnostic and prognostic renal biopsy, and to put the patient on treatment with high and prolonged steroid doses. The presence of several cases in the same family is well known, as is the association with other chronic inflammatory disorders, favouring a genetic, environmental and/or immunological aetiology 1. We report a case of a 40-yr-old male referred to the nephrologist because of high levels of creatinine. He had been a 5 pack-yr smoker until 8 yrs previous and had worked as a salesperson in a large store. Except for mild asthenia, polyuria and polydipsia, he remained asymptomatic. Physical examination was entirely normal. Abdominal ultrasonography showed bilateral nephrocalcinosis and spleen enlargement, and the patient was admitted for further evaluation. Red and white blood cell counts were normal. Serum chemistry showed the following (normal ranges in parentheses): creatinine 3.2 mg·dL−1 (0.7–1.3 mg·dL−1); calcium 13.5 mg·dL−1 (8,2–10,6 mg·dL−1); 1,25-dihydroxyvitamin D 62,2 ng·dL−1 (10–50 ng·dL−1); parathyroid hormone 8.7 pg·mL−1 (11–72 pg·mL−1); angiotensine converting enzyme 178 IU·L−1 (18–55 IU·L−1); and 24-h urine calcium excretion 976 mg·day−1 (10–300 mg·day−1). Thyroid hormone levels, immunoglobulin (Ig) levels and antigliadin IgA levels were normal. Chest radiography showed bilateral diffuse interstitial infiltrates and a high-resolution computed tomography scan further showed hilar, mediastinal and axilar adenopathy. There were interlobar septal thickening and peripheral and subpleural small nodules related to pulmonary vessels. A 2-IU purified protein derivative RT-23 test showed no induration after 72 h. The ECG was normal, as was the ocular exam. Pulmonary function test results were …