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A 35-year-old female asked:

Is it normal for 35 y/o non-alcoholic female w/o family history of pkd to develop multiple painful bilateral renal cysts, high urine output & high bp?

2 doctor answers7 doctors weighed in
Dr. Quresh Khairullah
Nephrology and Dialysis 44 years experience
See bow: Pkd can occur without known family history as it can be asymptomatic. Cysts can be painful without any reason.
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Dr. Rex Mahnensmith
A Verified Doctoranswered
46 years experience
Isolated PKD: PKD is autosomal dominant. One PKD allele is all that is needed to express PKD. Expression is over 90%. What you report is not normal, nor usual. Over 90% of expressed, affected persons have an affected parent. Yet, old data indicate that ~10% of affected persons do not have a parent with expressed PKD. Yet new data reveal that PKD gene mutations do exist in a parent without expression.
Created for people with ongoing healthcare needs but benefits everyone.
Dr. Rex Mahnensmith
A Verified Doctor commented
A US doctor answered Learn more
Provided original answer
So, you have an additional acquired mutation on one of two chromosomes. Either 16 or 4. Likely, a parent has minor mutations, were genetic mapping done. Now, lets face the dx. Control bp with diet, low salt, and best meds -- ACEI . Eliminate saturated fats. Reduce protein. Enroll in a tolvaptan trial. Get into an expert pkd care setting.
Oct 30, 2014

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