POLYCYSTIC KIDNEY DISEASE

SUMMARY

1. Autosomal dominant, most common genetic disease of the kidney, associated with a mutation on the short arm of chromosome 16.

2. Onset of polycystic kidney disease occurs at age 20.

3. Clinical - gross/microscopic hematuria (most common), flank pain, CKD, HTN, and cyst infections.

4. Complications - progressive renal failure, HTN, cysts of the kidneys, liver, and pancreas. Associated liver cysts cause hepatomegaly but rarely liver dysfunction. Cerebral aneurysms occur in a very small percent (1-5%).

5. Inx - diagnosis is established when polycystic kidneys are identified on imaging (U/S or CT) during evaluation for hematuria.

6. Screening for aneurysms is recommended only if the patient has 1 or more relatives with a history of SAH or known aneurysm.

Reference(s)

Wilkinson, I., Furmedge, D. and Sinharay, R. (2017). Oxford handbook of clinical medicine. Oxford: Oxford University Press. Get it on Amazon.
Feather, A., Randall, D. and Waterhouse, M. (2020). Kumar And Clark’s Clinical Medicine. 10th ed. S.L.: Elsevier Health Sciences. Get it on Amazon.
Hannaman, R. A., Bullock, L., Hatchell, C. A., & Yoffe, M. (2016). Internal medicine review core curriculum, 2017-2018. CO Springs, CO: MedStudy.
Therapeutic Guidelines. Melbourne: Therapeutic Guidelines Limited. https://www.tg.org.au [Accessed 2021].