Download - Polycystic kidney disease for students
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Polycystic Kidney disease
Lecture 52
Cystic Diseases of the Kidney
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Mutations in genes located on chromosome 16p13.3 (PKD1) and 4q21 (PKD2),
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Possible mechanisms of cyst formation in polycystic kidney disease
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Gross MorphologyThe kidneys are usually bilaterally
ENLARGED and may achieve
enormous sizes; weights as high as 4 kg for each kidney have been reported.
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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.
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Morphology• The cysts may be filled with
•a clear, serous fluid or,
• more usually, with turbid, red to brown,
• sometimes hemorrhagic fluid.
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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.
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Clinical FeaturesMany of these patients remain
asymptomatic until renal insufficiency announces the presence of the disease.
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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.
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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.
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Clinical features• Patients with PKD2 mutations
tend to have an older age at onset and later development of renal failure.
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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.
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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.
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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.
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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.
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Clinical Features
• This form of chronic renal failure is remarkable in that patients may survive for many years with azotemia slowly progressing to uremia.
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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.
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