Autosomal dominant polycystic kidney disease is increasingly diagnosed during childhood, primarily because of increased availability and sensitivity of ultrasonography, and less commonly because of symptoms. If early treatment of symptoms and signs, especially hypertension, can lead to diminution in the progression of the disease, it behooves pediatricians to be aware of the ramifications of this disease. Autosomal recessive polycystic kidney disease is the more commonly symptomatic disease in childhood. Information leading to the genetic loci and the pathogenetic features of these diseases is explored in this review, and clinical features and prenatal diagnostic considerations in autosomal dominant disease are discussed. Because of enhanced interest in these genetic renal diseases that lead to end-stage renal disease, we can anticipate innovative therapeutic strategies and improved survival in the future.
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