Polycystic Kidney Disease
From Iusmgenetics
(Difference between revisions)
(Created page with '==Disease Name== ===General background information=== ===Mode of inheritance=== *Autosomal dominant **One of the most common dominant diseases in humans. *1/300 - 1/1000 births…') |
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*Average onset is in the 4th decade. | *Average onset is in the 4th decade. | ||
*Demonstrates 90% penetrance by age 70 | *Demonstrates 90% penetrance by age 70 | ||
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| + | *ADPCKD (autosomal dominant polycystic kidney disease) is an example of the two-hit hypothesis. | ||
| + | **Pts likely inherit one defective allele (the first "hit") and acquire a second "hit" on the other allele and therefore develop the disease. | ||
===Phenotypic information=== | ===Phenotypic information=== | ||
Current revision as of 13:17, 28 November 2011
Contents |
[edit] Disease Name
[edit] General background information
[edit] Mode of inheritance
- Autosomal dominant
- One of the most common dominant diseases in humans.
- 1/300 - 1/1000 births
- Accounts for 8-10% of end-stage renal disease in the USA.
- Polycystic Kidney Disease is a good example of a two hit disease.
[edit] Single important gene
- PKD1 and PKD2 (polycystin-1 and polycystin-2)
- PKD1 accounts for 85% of cases
- PKD1 demonstrates allelic heterogeneity
- PKD1 has a high mutation rate so there are many disease-causing alleles and no common mutations
[edit] Etiology
[edit] Pathogenesis
- Average onset is in the 4th decade.
- Demonstrates 90% penetrance by age 70
- ADPCKD (autosomal dominant polycystic kidney disease) is an example of the two-hit hypothesis.
- Pts likely inherit one defective allele (the first "hit") and acquire a second "hit" on the other allele and therefore develop the disease.
[edit] Phenotypic information
- Cysts on the kidneys (100% of cases)
- Blood in urine
- Adenomas
- Hypertension
- Kidney stones
- Systemic signs: heart, liver (75% of pts), pancreas, cerebral vasculature
