Polycystic Kidney Disease

From Iusmgenetics

Contents 1 Disease Name 1.1 General background information 1.2 Mode of inheritance 1.3 Single important gene 1.4 Etiology 1.5 Pathogenesis 1.6 Phenotypic information 1.7 Diagnosis 1.8 Treatment 1.9 Recent research 1.10 5 important facts 1.11 Not to be confused with 1.12 Questions and answers

Disease Name

General background information

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.

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

Etiology

Pathogenesis

• Average onset is in the 4th decade.
• Demonstrates 90% penetrance by age 70

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

Diagnosis

Treatment

Recent research

5 important facts

Not to be confused with

Questions and answers