Autosomal Dominant Polycystic Disease Research Articles

Renal cysts in pediatric patients

Renal cysts are relatively common. They may be single, multiple, or innumerable, cortical or medullary. Most renal cysts are spherical, thin-walled, epithelial-lined structures that contain fluid with features of a plasma ultrafiltrate. A clinically useful classification must include characteristics such as age of onset, family history and association with extrarenal lesions, as well as morphologic parameters. Renal dysplasia is disturbed renal histogenesis, either syndromic or non-syndromic, which usually gives rise to morphologically characteristic renal cysts. Two important and distinctive familial forms of renal polycystic disease occur. Autosomal dominant polycystic disease characteristically becomes manifest in adulthood but is becoming increasingly diagnosed in young individuals. Autosomal recessive infantile polycystic disease has complex relationships with "congenital hepatic fibrosis". Other cystic renal lesions are less common in young patients, but their occurrence in association with other abnormalities provokes speculation regarding pathogenesis.

Autosomal dominant polycystic renal disease in children

ADULT-TYPE POLYCYSTIC KIDNEY DISEASE is inherited as an autosomal dominant trait and usually presents after the age of 30? Liver involvement by large cysts may occasionally cause portal hypertension.: By contrast, infantile polycystic renal disease is almost always diagnosed in infancy or early childhood and is inherited by an autosomal recessive mode. :~ Portal dysplasia, which may lead to hepatic fibrosis, can be demonstrated in the majority of patients with infantile polycystic renal disease; when present, its severity appears to have a direct relationship to the age of the child.:' Differentiation between these two forms of polycystic renal disease is important for prognosis and genetic counselling. If they segregated discretely in terms of the age of presentation, an accurate diagnosis could be made on this basis. It has become apparent, however, that adulttype polycystic kidney disease may present in infancy, :'~ and the renal manifestations of infantile polycystic renal disease may only become obvious in older children?:' There are few reports documenting adult-type polycystic renal disease with onset in childhood. This has led to an erroneous conclusion that the condition rarely presents in children. This report describes the clinical and radiologic features of eight children in six kindreds with onset of the adult-type in the first decade of life. The terms infantile and adult polycystic renal disease could be discarded in favor of autosomal recessive and autosomal dominant polycystic renal disease.