Congenital kidney anomolies

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Mutation and Genetic Drift

av Ung Ryan

Organigram

av Emma Spence

Fragile X

av Kerry Burns

Chronic Renal Failure

av R G

Small Shrunken Kidney

Large size Kidney

Congenital/Aquired kidney anomolies

Aquired

Acquired (dialysis-associated) cysts

Associated with development of renal cell carcinoma – occurring in 7% of patients dialyzed for 10 years or more

Cortical and medullary location Numerous; filled with clear fluid

Renal Medullary Diseases

Familial Juvenile Nephronopthisis

Corticomedullary Junction cysts

Autosomal recessive with 3 genes (NPH1,NPH2 &NPH3)

Adult onset Medullary

Most common genetic cause of end-stage kidney disease in children and young adults

Cysts are at the corticomedullary Junction

Present with Salt wasting, polyuria

Polycystic Kidney

Juvenile Polycyctic Kidney ARPKD

Perinatal lethal is the most common Associated with portal hypertension

Clinical subtype depends upon % of collecting duct involment.

Defect in the gene that codes for Fibrocystin Results in Dilated collecting ducts (spongelike)

Autosomal Recessive (PKHD 2) Chromosome 6

Adult Polycystic Kidney

Cysts are found in Corticomedullary area

Bilateral Presentation in 4,5,6th decade

ADult or (Autosomal Dominant)

PKD 1 gene (Polycystin 1)

Death is common (10%) from a berry aneurysism

Hepatic cysts are most common co-manifestations along with Hypertension and miral valve prolapse and flank pain & hematuria