Table 12.

Glossary of terms

Abnormal gene	There are two copies of every gene, one from each of your parents, and many genes make a corresponding protein. If there is a ‘spelling mistake’ in one copy of a gene, the other one may make enough protein so that the protein is not faulty and disease does not develop. This is why we all have thousands of mistakes or ‘mutations’ in our genes and problems never occur. However, sometimes one faulty copy of a gene is enough to make either an imbalance of the corresponding protein or the protein is misfolded. Sometimes the protein is not made at all which can result in disease
Autosomal	The gene in question is located on one of the ‘numbered’ chromosomes (1–22) and not on one of the two sex chromosomes (X or Y) and not in the mitochondrial DNA either. ‘Autosomal dominant’ means that only one of your two copies of the gene has a ‘mutation’ or ‘mistake’ which usually means it has been inherited from one parent. ‘Autosomal recessive’ is when both of your copies of the gene have a ‘mutation’ usually inherited from each of your parents
Chromosome	Thread-like structures are located inside the nucleus of cells that make up your body. They are made of tightly coiled deoxyribonucleic acid (DNA)
Collagen IV	One of the 6 types of collagen protein found in the body. Made by the collagen IV genes (COL4 genes). Collagen IV makes up the structure of basement membranes (a structure on which certain cells grown) in the body
COL4A3, A4, A5	The 3 genes which make the collagen-a3, a4. and a5 proteins which wind together into a ‘triple helix’ structure to form basement membranes in the eye, ear, and kidney
Cortex	The cortex of the kidney is the tissue that surrounds the inside of the kidney organ called the ‘medulla’. The cortex is where the nephrons (blood filtering units) begin
DNA (Deoxyribonucleic acid)	DNA is the long double-stranded molecule that carries genetic information required for the development and function of that person. It is inherited from both of your biological parents
Genetic variant	A permanent change in the sequence (‘spelling’ or ‘code’) of a person’s DNA that makes up a gene
Genotype	The genetic makeup of a person
Haematuria	There is blood in your urine. There are two types of haematuria. ‘Frank’ haematuria which is when the blood is visible and ‘microscopic’ haematuria is when this cannot be seen unless using a microscope or can be tested for with a urine dipstick which is called ‘urinalysis’. Microscopic haematuria is usually described as 1 + , 2 + , 3 + , or 4 + blood on a urine dipstick depending on how much blood is present
Heterozygous	A person has inherited one ‘abnormal’ copy of a gene and one ‘normal’ copy of the same gene i.e. they have two different versions of the same gene due to a ‘spelling mistake’ in one of the copies
Homozygous	Being homozygous for a particular gene means that you have inherited two identical versions of the same gene. This usually means that you have an autosomal recessive condition as both copies of the gene have the same ‘spelling mistake’
Medulla	The inner part of the kidney. Its main job is to control the concentration of urine
Pathogenesis	The process by which disease develops
Phenotype	Symptoms and signs that result from a person’s genotype (genetic makeup). A person’s phenotype is determined by both their genetic makeup and environmental factors
Prognosis	An opinion on the likely future outcome of the condition (how it will turn out)
Proteinuria	There are high levels of protein in the urine. This can be a sign that there is a condition affecting the kidneys. The amount of protein leaking into the urine can be measured either using a urine dipstick (described as 1 + , 2 + , 3 + , or 4 + protein) or by performing urine albumin: creatinine ratio (urine ACR) or urine protein: creatinine ratio (urine PCR)