Polycystic Disease of the Kidney

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Polycystic Disease of the Kidney

PC Harris, University of Oxford, Oxford, UK

Published online: April 2001

DOI: 10.1038/npg.els.0002124

Full Article on Wiley Online Library

Abstract
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References

A number of genetic diseases cause significant morbidity and mortality due to renal cyst development and result in renal failure. The disorders range in severity from those causing neonatal death to mild cystic disease in old age.

Keywords: autosomal dominant polycystic kidney disease; autosomal recessive polycystic kidney disease; genetic disease; cyst; renal disease pathogenesis

References
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Further Reading
	Brook-Carter PT, Peral B, Ward CJ et al. (1994) Deletion of the TSC2and PKD1genes associated with severe infantile polycystic kidney disease – a contiguous gene syndrome. Nature Genetics 8: 328–332.
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	Dalgaard OZ (1957) Bilateral polycystic disease of the kidneys: a follow-up of two hundred and eighty-four patients and their families. Acta Medica Scandinavica 328: 1–251.
	book Davison AM, Cameron JS, Grünfeld J-P et al.(eds) (1998) Oxford Textbook of Clinical Nephrology, 2nd edn. Oxford: Oxford University Press.
	Fick GM and Gabow PA (1994) Hereditary and acquired cystic disease of the kidney. Kidney International 46: 951–964.
	Gabow PA (1990) Autosomal dominant polycystic kidney disease – more than a renal disease. American Journal of Kidney Disease 16: 403–413.
	Grantham JJ, Geiser JL and Evan AP (1987) Cyst formation and growth in autosomal dominant polycystic kidney disease. Kidney International 31: 1145–1152.
	Harris PC (1997) Autosomal dominant polycystic kidney disease: a genetic perspective. Nephrology 3: 387–395.
	book Watson ML and Torres VE (eds) (1996) Polycystic Kidney Disease. Oxford: Oxford University Press.

Article Title:	Polycystic Disease of the Kidney
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	Figure 1. Kidney from a patient with end-stage autosomal dominant polycystic kidney disease showing multiple fluid-filled cysts of varying sizes. The size marker is approximately the length of a normal adult kidney.
	Figure 2. Diagram of the autosomal dominant polycystic kidney disease proteins, polycystin-1 and polycystin-2. See key for details of functional domains. PKD, polycystic kidney disease.
	Figure 3. Section of neonatal kidney from a patient with autosomal recessive polycystic kidney disease. Several cysts can be seen lined with normal collecting duct epithelium. A number of normal tubules and a glomerulus can also be seen.

Polycystic Disease of the Kidney

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