Mistaken identity: normotensive scleroderma renal crisis

Abstract

A patient presented with neuromuscular, respiratory and cardiac symptoms and was initially diagnosed with amyotrophic lateral sclerosis (ALS), myocardial ischaemia and pneumonia. He developed unexplained progressive kidney failure over the ensuing week, and his kidney biopsy showed thrombotic microangiopathy that led to the correct diagnosis of normotensive scleroderma renal crisis. His clinical presentation and course were consistent with systemic sclerosis and normotensive scleroderma renal crisis. He was treated with an ACE inhibitor (ACEi) and haemodialysis with significant functional improvement over the next 3 months to his prior baseline with the exception of kidney failure. This case highlights a diagnostic challenge requiring astute history and physical examination skills, and the value of a kidney biopsy in providing the final diagnosis.

Figure 1

Light and electron microscopy from kidney biopsy. The glomeruli appeared ischaemic, but not globally sclerotic (A and B). Severe arterial and arteriolar intimal thickening with intimal fragmented erythrocytes, along with microangiopathy, were noted. Mild-to-moderate arteriosclerosis is present. There was no evidence of interstitial inflammation or fibrosis or tubular atrophy. The glomeruli were negative for immune deposits with all stains (IgG, IgA, IgM, C3, C1q, albumin, fibrinogen, κ and λ light chains; data not shown). Ultrastructural evaluation by electron microscopy revealed diffuse epithelial foot process effacement, and thickened and wrinkled glomerular basement membranes, indicating ischaemia (C). Electron dense deposits were absent.