Adult polycystic liver and kidney diseases are separate entities

Abstract

In 22 cases of either adult polycystic liver (PLD) or polycystic kidney (APCD) disease, considered as one dominantly inherited entity, both diseases occurred together only once. Early microscopical cystic lesions that are typical of PLD were found in another case of APCD. In this medicolegal autopsy series the incidence of PLD was 0.05% and that of APCD 0.08%.Cerebrdl haemorrhage or cerebral aneurysms wcrc found in 50% of APCD cases but in none of the cases with only PLD (~(0.01). Of the cases with PLD, 50% had associated renal cysts and 10% of the cases with APCD had associated liver cysts. The same medicolegal autopsy material yielded a prospective series of 95 male cases, where, however, kidney cysts were normally present in over 50% and liver cysts in about 20% of the cases of similar age. Thus, a part of the association between cystic disease of the liver and kidney may have been based on the common occurrence of cysts in old age.V. Meyenburg's complex was the microscopic alteration associated with cysts in PLD. It was associated as well with liver cysts in APCD suggesting that an intricate relation between PLD and APCD does occur in part of the cases, in this series characterized by large size APCD kidneys.The results indicate that in adults PLD is an entity of its own, expressed in most of the cases independently of APCD.

Isolated polycystic liver disease genes define effectors of polycystin-1 function

“…The MAF threshold was chosen conservatively because of uncertainty about the actual prevalence of radiographically defined PCLD. Autopsy studies have suggested prevalence ranging from 1:400 to 1:2,000, with the largest study showing 1:1,300 (25)(26)(27). We found 1,266 sequence variants meeting these criteria in the 102 probands.…”

PRKCSH Genetic Mutation Was Not Found in Taiwanese Patients with Polycystic Liver Disease

“…Prevalence has been reported to be 0.03% in Finnish [15], and 4.65% in patients above 40 years old by Caremani et al [16]. Single and multiple hepatic cysts have relatively high prevalence of 2.5-10% among general population [1,17].…”

Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p

“…Polycystic liver disease (PCLD) is a rare autosomal dominant inherited disorder that is estimated to be present in 0.05-0.13% of the population (Karhunen and Tenhu 1986;Kwok and Lewin 1988). The pathology dictates the presence of multiple Xuid-Wlled cysts scattered throughout the liver parenchyma.…”