Terms for Understanding Kidney Disease & Genomic Research

We created this glossary to help patients and families better understand key terms in kidney disease and genomics. By breaking down complex concepts, we hope to empower you to feel confident in discussing kidney research and your health journey.

Autosomal Dominant: A pattern of inheritance where one copy of a mutated gene from one parent is enough to cause the disease.

Autosomal Recessive: A pattern of inheritance where two copies of a mutated gene (one from each parent) are required to develop the disease. Many genetic kidney diseases follow this pattern.

Computational Biology: The application of computer science and statistics to understand biological problems. It’s a key tool in analyzing genetic information related to kidney diseases.

eGFR (Estimated Glomerular Filtration Rate): A measure of how well the kidneys are filtering waste from the blood. It’s used to determine the stage of kidney disease.

Genetic Testing: A medical test that identifies changes in chromosomes or genes, which can help diagnose or predict the risk of specific kidney diseases.

Genomics: The study of the complete set of DNA. In nephrology, studying the entire genome can allow us to identify specific genetic changes that may cause or contribute to kidney diseases.

Glomerulonephritis: Inflammation of the glomeruli, which can impair kidney function and lead to chronic kidney disease.

Glomerulus: A tiny, ball-shaped structure of capillaries in the kidneys where blood is filtered to form urine. Damage to the glomeruli can lead to kidney diseases.

Hematuria: The presence of blood in the urine, which can be an indicator of kidney disease or other conditions.

Nephrology: The branch of medicine that specializes in the study and treatment of kidney diseases.

Nephron: The basic structural and functional unit of the kidney responsible for filtering blood and forming urine. Each kidney contains about a million nephrons.

Podocyte: A specialized cell in the kidneys that wraps around the capillaries of the glomerulus and plays a crucial role in filtering blood.

Proteinuria: The presence of abnormal amounts of protein in the urine, a sign of kidney disease that indicates the kidneys’ filtering system may be damaged.

Renal: Relating to the kidneys. For example, “renal function” refers to how well the kidneys are working.

Renal Biopsy: A procedure in which a small sample of kidney tissue is taken for examination under a microscope to diagnose kidney diseases.