Multiple cysts, some with evidence of remote hemorrhage, are present in this liver from autopsy of a patient with dominant polycystic kidney disease (DPKD). This is an autosomal dominant condition that has the onset of clinical findings in middle aged to elderly adults. DPKD is present in about 1 in 1000 persons. About 85% of cases result from inheritance of an abnormal PKD1 gene located on chromosome 16. This gene codes for a protein known as polycystin 1 that is involved in cell-cell matrix interactions important in tubular epithelial cells. About 10% of DPKD cases, typically with later onset in life, result from an abnormal polycystin 2 gene on chromosome 4 that is involved with calcium and sodium channels. Patients remain asymptomatic as the cysts gradually enlarge until enough renal parenchyma is destroyed, leading to renal failure. The cysts may also involve the liver (40% of cases), spleen, and pancreas. Hemorrhage into the cysts is common. The cysts may also become infected with organisms such as Staphylococcus aureus. Other findings with DPKD include intracranial berry aneurysm and prolapsed mitral valve.
| Our winner is: Dr. S.C. Atri of Allahabad, Uttar Pradesh, INDIA
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