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Introduction to Polycystic Kidney Disease
Causes of Polycystic Kidney Disease
- A second gene called PKD2, on chromosome 4, was identified and mutations in this gene are responsible for causing Type II ADPKD in 10-15% of ADPKD patients.
- In 2002, the gene responsible for ARPKD on chromosome 6, called PKHD1 was discovered.
- Familial nephronophthisis is caused by a mutation of NPH1, NPH2, NPH3, NPH4, and NPH5 genes.
- Medullary cystic kidney disease is caused by a mutation in either the MCKD1 or MCKD2 gene.
Cellular Factors and Polycystic Kidney Disease
In every cell in the body there is a balance between cellular reproduction and proliferation and cellular death (apoptosis). It is thought that part of the progressive destruction of normal kidney tissue in ADPKD and ARPKD is due to abnormally persistent apoptosis (cell death) that may allow the cystic process to continue unchecked.
Hormonal Factors and Polycystic Kidney Disease
A hormone called epidermal growth factor (EGF) appears to be involved with cyst formation in PKD. Certain cells lining the cysts appear to be very sensitive to being stimulated by EGF. There is a high concentration of EGF in cystic fluid which may be a source of stimulation for the proliferation of cystic cells.
