Many diseases may cause cysts. Some are particularly prone to be confused with PCKD, although PKD1 and PKD2 together account for the great majority of polycystic diseases.
The most common difficulty is distinguishing between PKD and simple or degenerative cysts. Simple cysts are few in number and more often unilateral. Acquired cystic disease is usually seen in small kidneys.
| Disease, OMIM # |
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|
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| Polycystic kidney disease of adults (APKD1) | PKD1, 16 |
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Polycystin 1. Classic PKD. |
| APKD2 | PKD2, 4 |
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Polycystin 2. Forms regulated cation channel with polycystin 1. Milder phenotype |
| APKD3 | PKD3, ? |
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Gene not identified |
| Infantile polycystic kidney disease (IPKD, ARPKD) | PKHD1, 6 |
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Gene not identified. With hepatic disease. In practice unlikely to be confused. |
| Orofacial digital syndrome | CXORF5, X |
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CXORF5. Lethal to males. Lots of kidney cysts; can look quite like APKD |
| Acquired cystic disease | none |
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|
Particularly when disease is slowly progressive |
| Tuberous sclerosis | TSC1, 9 |
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Hamartin |
| Tuberous sclerosis | TSC2, 16 |
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Tuberin; TSC2 is adjacent to PKD1 so a deletion can lead to a genuine overlap syndrome |
| von Hippel Lindau | VHL, 3 |
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Tumour suppressor |
Link to OMIM (Online Mendelian Inheritance in Man) for further information on individual diseases
This fine picture of renal cysts is taken from WebPathGuy's site, see our eulogy to it (and a caution about the length of his pages) here.
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