What are PKD1 and PKD2?
The PKD1 and PKD2 genes encode the proteins polycystin-1 and polycystin-2, respectively. These two proteins interact to regulate cells in the kidneys and liver, are a part of the process to form tubular structures, and influence growth and fluid secretion function.
What does PKD1 stand for?
PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting) is a Protein Coding gene. Diseases associated with PKD1 include Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease and Autosomal Dominant Polycystic Kidney Disease.
What does the PKD1 gene do?
The PKD1 gene provides instructions for making a protein called polycystin-1. This protein is most active in kidney cells before birth; much less of the protein is made in normal adult kidneys.
What body system does polycystic kidney disease affect?
Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure.
What chromosome is PKD2 on?
Two major genes have been identified and characterized in detail: PKD1 and PKD2, mapping on chromosomes 16p13.
Where is PKD1 located?
PKD1 (polycystic kidney disease 1 (autosomal dominant))
| Alias (NCBI) | PBP |
|---|---|
| HGNC Previous name | polycystic kidney disease 1 (autosomal dominant) |
| LocusID (NCBI) | 5310 |
| Atlas_Id | 41725 |
| Location | 16p13.3 [Link to chromosome band 16p13] |
What is the life expectancy of someone with polycystic kidney disease?
Autosomal dominant polycystic kidney disease is a genetic disorder affecting 1 in 1000 people worldwide and is associated with an increased risk of intracranial aneurysms. The average life expectancy of a patient with ADPCKD ranges from 53 to 70 years, depending on the subtype.
Should you have kids if you have polycystic kidney disease?
About 80% of women with ADPKD have a successful, normal pregnancy and deliver a healthy baby. But two things may lead to complications: high blood pressure (your doctor will call it hypertension) and decreased kidney function.