1. What is Fabry disease? Fabry disease is a systemic, X-linked, lysosomal storage disorder that results from the deficient activity of the enzyme α-galactosidase A (α-Gal A) and the lysosomal accumulation of its primary glycolipid substrate, globotriaosylceramide (GL-3). The progressive…
1. Define thrombotic microangiopathy. Thrombotic microangiopathy (TMA) is a pathologic description characterized by arteriole and capillary endothelial vessel wall damage that results in platelet activation, thrombosis, and damaged erythrocytes (schistocytes) leading to ischemia and organ failure. Several different clinical syndromes…
1. Describe the demographics of renal cell carcinoma (RCC). how many cases of RCC are diagnosed annually, and how many deaths are attributable to this disease? Is RCC more common in males or females? What is the median age at…
Dysproteinemias 1. What is myeloma? Myeloma is a hematologic malignancy comprising about 1% of all cancers. It consists of an excess of clonally expanded cytogenetically heterogeneous bone marrow-derived plasma cells with two cardinal features: a monoclonal immunoglobulin (the paraprotein or…
1. What is tumor lysis syndrome (TLS)? TLS is a condition in which widespread necrosis of tumor cells releases toxic amounts of intracellular contents into the circulation, resulting in acute hyperuricemia, hyperkalemia, hyperphosphatemia, hypocalcemia, and acute kidney injury (AKI). 2.…
1. What is onconephrology? Onconephrology focuses on all aspects of kidney disease in patients with malignancy, as well as areas where nephrology intersects with hematology. As the name implies, nephrologists and oncologists are well positioned to collaborate on this area…
1. How do you begin the evaluation of kidney disease in the setting of human immunodeficiency virus (HIV) infection? The differential diagnosis of kidney disease in the setting of HIV infection covers a wide spectrum of kidney disorders including acid-base…
1. What types of viral hepatitis are associated with glomerulonephritis? Chronic carriers of hepatitis B (HBV; 400 million people worldwide) or hepatitis C (HCV; 170 million people worldwide) are at increased risk of developing a variety of glomerular diseases linked…
1. Wasn’t this category previously called postinfectious glomerulonephritis (PIGN)? There has been considerable effort to reclassify glomerular diseases that occur as a result of an infection. PIGN describes a unique clinical and pathogenic sequence of events that lead to an…
1. Which of the vasculitides are most often associated with glomerular disease? The small-vessel vasculitides are most often associated with glomerular disease ( Fig. 33.1 ). Immunoglobulin (Ig)A vasculitis (Henoch-Schölein-purpura) and cryoglobulinemic vasculitis are associated with immune complex deposition. Pauci-immune…