TY - JOUR
T1 - Clinical profile of autosomal dominant polycystic liver disease
AU - Qian, Qi
AU - Li, Airong
AU - King, Bernard F.
AU - Kamath, Patrick S.
AU - Lager, Donna J.
AU - Huston, John
AU - Shub, Clarence
AU - Davila, Sonia
AU - Somlo, Stefan
AU - Torres, Vicente E.
N1 - Funding Information:
Supported by National Institutes of Health grant DK51041 (to S.S. and V.E.T.), Mayo Clinic General Clinical Research Center grant M01-RR00585, and Yale Liver Center Training grant T32 DK07356 (to A.L.). A.L. and S.S. are members of the Yale Center for the Study of Polycystic Kidney Disease (grant P50 DK57328).
PY - 2003/1/1
Y1 - 2003/1/1
N2 - Most reports on the natural history, manifestations, and treatment of polycystic liver disease are based on the disease as it manifests in patients with autosomal dominant polycystic kidney disease (ADPKD). The purpose of this study was to develop a clinical profile of isolated autosomal dominant polycystic liver disease (ADPLD) using nonaffected family members as controls. The study included 146 probands, known affected relatives, and first-degree relatives of affected individuals. Participants underwent a formalized medical history interview and physical examination, ultrasonographic examination of the liver and kidneys, magnetic resonance angiography of the brain, and echocardiography. Thirty-eight of the 49 individuals diagnosed with polycystic liver disease before participation in the study were or had been symptomatic. Of 97 previously undiagnosed at-risk individuals, 23 were affected, 39 were unaffected, and 35 were indeterminate. Compared with patients with a negative or indeterminate diagnosis, those with polycystic liver disease had slightly higher levels of serum alkaline phosphatase and total bilirubin and lower levels of total cholesterol and triglycerides. Female patients had a significantly higher mean cyst score than male patients. The cysts were found to arise from the dilatation of biliary microhamartomas and from peribiliary glands. Structural mitral leaflet abnormalities were detected more frequently in affected than in indeterminate or nonaffected individuals. A vascular phenotype was detected in 5.6% of the patients with isolated ADPLD diagnosed clinically and/or by linkage analysis but in none of the unaffected patients. In conclusion, isolated ADPLD is underdiagnosed and genetically distinct from polycystic liver disease associated with ADPKD but with similar pathogenesis, manifestations, and management.
AB - Most reports on the natural history, manifestations, and treatment of polycystic liver disease are based on the disease as it manifests in patients with autosomal dominant polycystic kidney disease (ADPKD). The purpose of this study was to develop a clinical profile of isolated autosomal dominant polycystic liver disease (ADPLD) using nonaffected family members as controls. The study included 146 probands, known affected relatives, and first-degree relatives of affected individuals. Participants underwent a formalized medical history interview and physical examination, ultrasonographic examination of the liver and kidneys, magnetic resonance angiography of the brain, and echocardiography. Thirty-eight of the 49 individuals diagnosed with polycystic liver disease before participation in the study were or had been symptomatic. Of 97 previously undiagnosed at-risk individuals, 23 were affected, 39 were unaffected, and 35 were indeterminate. Compared with patients with a negative or indeterminate diagnosis, those with polycystic liver disease had slightly higher levels of serum alkaline phosphatase and total bilirubin and lower levels of total cholesterol and triglycerides. Female patients had a significantly higher mean cyst score than male patients. The cysts were found to arise from the dilatation of biliary microhamartomas and from peribiliary glands. Structural mitral leaflet abnormalities were detected more frequently in affected than in indeterminate or nonaffected individuals. A vascular phenotype was detected in 5.6% of the patients with isolated ADPLD diagnosed clinically and/or by linkage analysis but in none of the unaffected patients. In conclusion, isolated ADPLD is underdiagnosed and genetically distinct from polycystic liver disease associated with ADPKD but with similar pathogenesis, manifestations, and management.
UR - http://www.scopus.com/inward/record.url?scp=0037219154&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0037219154&partnerID=8YFLogxK
U2 - 10.1053/jhep.2003.50006
DO - 10.1053/jhep.2003.50006
M3 - Article
C2 - 12500201
AN - SCOPUS:0037219154
SN - 0270-9139
VL - 37
SP - 164
EP - 171
JO - Hepatology
JF - Hepatology
IS - 1
ER -