Polycystic kidney disease for students
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Polycystic kidney disease for students

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Polycystic kidney disease for students Polycystic kidney disease for students Presentation Transcript

  • Polycystic Kidney disease Lecture 52 Cystic Diseases of the Kidney
  • Mutations in genes located on chromosome 16p13.3 (PKD1) and 4q21 (PKD2),
  • Possible mechanisms of cyst formation in polycystic kidney disease
  • Gross Morphology The kidneys are usually bilaterally ENLARGEDand may achieve enormous sizes; weights as high as 4 kg for each kidney have been reported.
  • Morphology • The external surface appears to be composed solely of a mass of cysts, up to 3 to 4 cm in diameter, with no intervening parenchyma. However, microscopic examination reveals functioning nephrons dispersed between the cysts.
  • Morphology • The cysts may be filled with •a clear, serous fluidor, • more usually, with turbid, red to brown, • sometimes hemorrhagic fluid.
  • A and B, Autosomal-dominant adult polycystic kidney disease viewed from the external surface and bisected. The kidney is markedly enlarged and contains numerous dilated cysts.
  • Clinical Features Many of these patients remain asymptomatic until renal insufficiency announces the presence of the disease.
  • Clinical Features • Hemorrhage or progressive dilation of cysts may produce PAIN. • Excretion of blood clots causes RENAL COLIC. The enlarged kidneys, usually apparent on abdominal palpation, may induce a dragging sensation.
  • Clinical Features The disease occasionally begins with the insidious onset of hematuria, followed by other features of progressive chronic kidney disease, such as proteinuria (rarely more than 2 gm/day), polyuria, and hypertension.
  • Clinical features • Patients with PKD2 mutations tend to have an older age at onset and later development of renal failure.
  • Clinical Features • Both genetic and environmental factors influence disease severity. • Progression is accelerated in blacks (largely correlated with sickle-cell trait), in males, and in the presence of hypertension.
  • Clinical Features • Intracranial berry aneurysms, presumably from altered expression of polycystin in vascular smooth muscle, arise in the circle of Willis, and subarachnoid hemorrhages from these account for death in about 4% to 10% of individuals.
  • Extrarenal Manifestations • About 40% have one to several cysts in the liver (polycystic liver disease) that are usually asymptomatic. • The cysts are derived from biliary epithelium. Cysts occur much less frequently in the spleen, pancreas, and lungs.
  • Extrarenal Manifestations • Mitral valve prolapse and other cardiac valvular anomalies occur in 20% to 25% of patients, but most are asymptomatic. • The clinical diagnosis is made by radiologic imaging techniques.
  • Clinical Features • This form of chronic renal failure is remarkable in that patients may survive for many years with azotemia slowly progressing to uremia.
  • PROGNOSIS • Ultimately, • about 40% of adult patients die of coronary or hypertensive heart disease, • 25% of infection, • 15% of a ruptured berry aneurysm or hypertensive intracerebral hemorrhage, and the rest of other causes.