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

[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

[edit] Diagnosis

[edit] Treatment

[edit] Recent research

[edit] 5 important facts

[edit] Not to be confused with

[edit] Questions and answers