Gene for severe Polycystic Kidney Disease can be predicted.

Polycystic kidney disease is the third single most common cause of ESRD in the dialysis population based on US data. It is a disease charachterised by the development of cysts within the kidney which expand over time and damage the structure and function of the organ giving rise to chronic kidney disease then chronic renal failure. The rate of progression varies between patients, however sophisticated genetic tools are capable of distinguishing those who are likely to progress more slowly from those who are likely to need dialysis at a younger age.

The current study by Moumita et. al. published in the Journal of the association of nephrology (JASN) demonstrates that while sophisticated genetic tests are quite well and good, simply taking certain historical details from the patient at interview had a positive predictive value of 100% and sensitivity of 75% to detect the presence of the more severe type of polycystic kidney disease.

When interviewed, if patients had even one relative who had to be dialysed because of chronic kidney disease they were almost guaranteed to have the PKD1 gene. The PKD1 gene is the gene responsible for polycystic kidney disease in 85% of cases and has a median age of onset of kidney disease requiring dialysis at 53 years of age as opposed to PKD2 gene which has a median age of kidney disease requiring dialysis at 72.7 years of age.

This is a simple option for gaining prognostic information which is cheap and easily applied to all patients. However if there is insufficient clinical history then this criteria cannot be applied and gene testing is the way to go.

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