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The polycystic kidney diseases are among the most common life-threatening inherited diseases worldwide and frequently cause kidney failure. Autosomal dominant polycystic kidney disease (ADPKD) is seen predominantly in adults (Fig. 284-1), whereas autosomal recessive polycystic kidney disease (ARPKD) is mainly a disease of childhood. Renal cysts also are seen in several other hereditary kidney diseases (Table 284-1), some of which may have defects in a common signaling pathway with ADPKD and ARPKD. Other inherited tubular diseases manifest primarily with alterations in fluid, electrolyte, acid-base, and mineral balance (Table 284-2).

Table 284-1 Inherited Cystic Kidney Diseases
Figure 284-1

Renal ultrasonogram and contrast-enhanced abdominal CT scan in a 56-year-old woman with autosomal dominant polycystic kidney disease. A. Sonogram of the right kidney showing numerous cysts of varying sizes (arrows). B. Abdominal CT scan demonstrating bilaterally enlarged kidneys with large cysts (arrows). C. Multiple liver cysts (arrowheads) and renal cysts (arrow) are seen in an upper abdominal image.

Autosomal Dominant Polycystic Kidney Disease

Etiology and Pathogenesis

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