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Polycystic Kidney Disease

Polycystic Kidney Disease. Anne Campbell 1.23.2014. Polycystic Kidney Disease. Genetic Disease Normal kidney tissue is replaced with fluid filled cysts 600K People suffer from PKD. Characteristics of PKD. Enlargement of the Kidneys Formation of fluid filled cysts Pain.

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Polycystic Kidney Disease

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  1. Polycystic Kidney Disease Anne Campbell 1.23.2014

  2. Polycystic Kidney Disease • Genetic Disease • Normal kidney tissue is replaced with fluid filled cysts • 600K People suffer from PKD

  3. Characteristics of PKD • Enlargement of the Kidneys • Formation of fluid filled cysts • Pain

  4. Characteristics of PKD • Renal Failure • Complications with other organs • 2 types of PKD

  5. Recessive vs. Dominant Autosomal Recessive PKD Autosomal Dominant PKD • Rare • Infantile • Must inherit 2 copies to express symptoms • 25% chance • Common type of PKD • Adult PKD • Can inherit from a single parent • 50% chance

  6. Autosomal Dominant PKD • 10% of cases arise spontaneously • Symptoms appear around 20-30 years of age • 20-30 lb kidneys • No cure, treat symptoms (high blood pressure, pain)

  7. Autosomal Recessive PKD • Signs can begin before birth • Enlarged, abnormal kidneys • Developmental issues • Kidney failure early on • Liver scarring- worsens with age • No cure, treat symptoms • Worse cases- live only hours or days

  8. Genetics of PKD • Autosomal Dominant: PKD1 and PKD2 (chr.16 and chr.4) • Polycystin-1 and polycystin-2 • Autosomal Recessive: PKDH1 (chr.6)

  9. References • http://sonoworld.com/fetus/page.aspx?id=2100 • http://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/#genetic • http://www.mayoclinic.org/diseases-conditions/polycystic-kidney-disease/basics/causes/con-20028831

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