Definition
Autosomal-dominant polycystic kidney disease is the most common genetically transmitted renal cystic disease.
Clinical Features
Incidence
The incidence is estimated between 1:500 and 1:1000.
Age
Most patients present in the third to fourth decade of life; however pediatric cases can occur.
Sex
Slight male predominance is reported (male-to-female ratio 3:2).
Site
The kidneys are mostly affected bilaterally.
Treatment
Renal dialysis is the standard of care followed by renal transplant, when necessary.
Outcome
Renal failure occurs in roughly 59% of patients.
The most frequent clinical findings are positive family history, flank mass, hematuria, hypertension, and azotemia. Hepatic fibrosis and biliary dysgenesis may be present. Renal cell adenoma and carcinoma can be seen among the cysts.
Macroscopy
The kidneys are enlarged but reniform with an outer surface displaying innumerable cysts ranging in size from a few millimeters to several centimeters (Fig. 1).
References and Further Reading
Koptides, M., & Deltas, C. C. (2000). Autosomal dominant polycystic kidney disease: Molecular genetics and molecular pathogenesis. Human Genetics, 107, 115ā126.
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CaliĆ², A., Segala, D., Martignoni, G. (2019). Autosomal-Dominant (Adult) Polycystic Kidney Disease. In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_4783-1
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DOI: https://doi.org/10.1007/978-3-319-28845-1_4783-1
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