Genetic Predisposition of Taiwanese Patients with Polycystic Liver Disease
Date Issued
2006
Date
2006
Author(s)
Yang, An-Ming
DOI
zh-TW
Abstract
As a gastroenterologist, patients with liver cysts are frequently encountered in our daily practice. Although most patients with liver cysts are asymptomatic, some patients with multiple massive hepatic cysts may experience abdominal pain, discomfort and shortness of breath correlating with severity of hepatic cystic disease. Also, family clustering was found in patients with polycystic liver disease.
In the previous study, isolated polycystic liver disease has been proved to be independent of autosomal dominant polycystic kidney disease. Recently, germline mutations in PRKCSH and SEC63 genes were found to be responsible for development of PCLD. The PRKCSH gene encode a known protein -Glucosidase II β- which was a subunit of the enzyme Glucosidase acts in the endoplasmic reticulum for maintaining the intact of epithelium. Once the function impaired, liver cysts developed gradually with aging process and caused many pathological conditions.
In our study, we collected patients with liver cysts who received abdominal ultrasonography in a health evaluation center in one year. As far as liver cysts are concerned, the prevalence of liver cysts increased with age. For patients under 30-year-old, the prevalence was 0.17% with the advancing of age, the prevalence reached 14.29% in age 55 to 60 but did not elevated any more. For patients with polycystic liver disease, there is none under 40-year-old, the prevalence in 40 to 45 was 0.15% and increased to 1.5% in 50 to 55 years old. Then, the prevalence keep in that level. Why the prevalence did not increase after the age merits further study.
Then, we collect 20 index cases with polycystic liver disease，10 of these cases with significant family history. We did full length direct gene sequencing for PRKCSH in these patients. The only finding is there is a GAG deletion in exon 11 among 9 of the 20 patients. All mutations reported in the western literature was not found in Taiwanese. This result indicated that then mutations in this gene may be founder effect of Caucasian. However, does the GAG deletion which caused a loss of Glutamic acid associated with polycystic liver? We thus conducted a DNA fragment analysis on this exon among 56 Taiwanese general population. We found that the allele frequency is similar to that of polycystic liver disease patients, therefore, this polymorphism has nothing to do with PCLD. However, whether this polymorphism is associated with the development of liver cyst needs further studies.
Subjects
多囊性肝病
基因
Polycystic Liver Disease
Genetic Predisposition
Type
other
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