Frequently Asked Questions
Most people with chronic kidney disease (CKD) may not experience any severe symptoms until their kidney disease is advanced. Symptoms of advanced stage kidney disease include increased fatigue, loss of appetite, swollen feet and ankles, poor sleep, metallic taste, muscle cramping and itchy skin. Low blood count and high potassium are manifestations of CKD that are often discovered with blood test.
Kidney disease is diagnosed by blood test (to measure creatinine) and urine test (to determine if protein is present in the urine).
Diagnosis of diabetes, high blood pressure, lupus, sickle cell disease, family history of kidney disease, and having two copies of the altered APOL1 gene are some of the common risk factors for developing chronic kidney disease (CKD). Obstructions caused by kidney stones, tumor, or enlarged prostate may also increase risk of developing CKD. Individuals born preterm or born with low birth weight tend to have reduced kidney endowment which increases their risk for CKD later in life.
An estimated 37 million American adults (15% of US adults) have chronic kidney disease (CKD). CKD can progress to End Stage Kidney Disease (ESKD). More than 786,000 people in the United States live with ESKD—of which 71% are on dialysis and 29% with a kidney transplant.
Apolipoprotein L1 (APOL1) is a protein that is encoded by the APOL1 gene. There are three major versions of APOL1 gene-G0, G1 and G2. Every individual has two copies of APOL1 gene by inheriting one copy of the gene from each parent. Therefore, an individual may have one of six possible combinations of APOL1—G0G0, G1G1, G2G2, G1G2, G0G1, and G0G2. Carrying G1G1, G2G2, or G1G2 APOL1 increases risk of kidney disease.
APOL1 protein is present both within cells as well as secreted into the blood. The APOL1 in the blood functions protect humans against parasites such as trypanosomes that causes African sleeping sickness. High level of expression of APOL1 G1 or G2 in kidney cells is believed to drive kidney disease.
Kidney disease-causing APOL1 (G1 and G2) genes are carried only by Black Americans and individuals with recent West African ancestry. White Americans mostly carried non-kidney disease causing APOL1 (G0).
Not all carriers of G1 or G2 APOL1 develop kidney disease. Estimated 20% of carriers of G1G1, G2G2, or G1G2 APOL1 develop kidney disease. About 15% of Black Americans (more than 6 million people) carry G1G1, G2G2, or G1G2 APOL1.
All samples and records will be labeled only with the assigned study identity number. The names of participants will not be written on the samples. All study records will be secured, and all samples will be stored safely in a secured location at Duke University.
Only the study team will have access to your samples and record.
The Janus-Kinase (JAK)-STAT signaling pathway is a chain of interactions that communicates information from chemical signals outside of a cell to the nucleus of the cell, resulting in expression of genes. This pathway is involved in processes such as immunity, cell division, and cell death. Increased activity of JAK-STAT pathway may lead to variety of diseases, such as diseases of immune system, rheumatoid arthritis, skin disease, cancers, and APOL1-associated kidney disease.
Baricitinib acts as an inhibitor of Janus kinase by blocking JAK1 and JAK2. Currently, it is used as treatment of rheumatoid arthritis in adults. In JUSTICE trial, the goal is to investigate whether Baricitinib, by blocking APOL1 production, would block slow or block the progression of APOL1-associated kidney disease.
Cytokines are small proteins produced by immune cells and regulate the function of the cell by interacting with JAK-STAT pathway.