منابع مشابه
Polycystic kidney disease.
A number of inherited disorders result in renal cyst development. The most common form, autosomal dominant polycystic kidney disease (ADPKD), is a disorder most often diagnosed in adults and caused by mutation in PKD1 or PKD2. The PKD1 protein, polycystin-1, is a large receptor-like protein, whereas polycystin-2 is a transient receptor potential channel. The polycystin complex localizes to prim...
متن کاملBeyond polycystic kidney disease
Tuberous sclerosis(TS) is an autosomal dominant disease caused by mutations in TSC1 and TSC2 genes. TSC2 gene is located in chromosome 16p13.3, adjacent to PKD1 gene, responsible for the autosomal dominant polycystic kidney disease. In a rare subgroup of patients, the presence of a deletion which simultaneously affects the TSC2 and PKD1 genes has been confirmed. TSC2/PKD1-Contiguous Gene Syndro...
متن کاملIsolated polycystic liver disease.
Isolated polycystic liver disease (PCLD) is an autosomal dominant disease with genetic and clinical heterogeneity. Apart from liver cysts, it exhibits few extrahepatic manifestations, and the majority of patients with this condition are asymptomatic or subclinical. However, a small fraction of these patients develop acute liver cyst-related complications and/or massive cystic liver enlargement,...
متن کاملPolycystic liver disease.
A 54-year-old man had an asymptomatic elevation of cytolysis-related enzymes, GGT, and alkaline phosphatase, detected at a routine laboratory study. The patient reported no alcohol abuse, no history of liver disease, and no constitutional syndrome. Physical examination showed a good general status, normal colored skin and mucosas, and no stigmata of chronic liver disease. The abdomen was soft, ...
متن کاملPolycystic liver disease.
A 57-year-old woman with a past history of serous ovarian cystadenoma was admitted to hospital complaining of progressive abdominal bloating for the last six months. Physical examination revealed an increase in abdominal perimeter. The rest of the physical examination was normal. Alkaline phosphatase and gamma-glutamyl-transpeptidase were marginally raised, while the rest of the liver function ...
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ژورنال
عنوان ژورنال: Journal of Bone and Mineral Research
سال: 2010
ISSN: 0884-0431
DOI: 10.1359/jbmr.2000.15.2.373