Multiple cysts in the liver autosomal dominant polycystic liver disease.
A 45-year-old woman was admitted because of abdominal pain and a feeling of fullness. Ultrasound and CT scan of the abdomen showed a massively enlarged liver with hundreds of cysts and displacement of the right kidney. There were no cysts in the kidneys. Because several members of her family also had multiple cysts in the liver, the diagnosis of autosomal dominant polycystic liver disease (PCLD) was made. Genetic analysis demonstrated a protein kinase C substrate 80 K-H (PR KCSH) gene mutation (1338-2A>G) and confirmed the clinical diagnosis. A brief review of the genetics and possible treatments is given.
Karimbeg
A A
AA
Department of Internal Medicine, Zaans Medical Centre, Zaandam, the Netherlands.
Loffeld
R J L F
RJ
D002135:Calcium-Binding Proteins; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D003560:Cysts / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D005959:Glucosidases; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008099:Liver / Q000000981:diagnostic imaging*; D008107:Liver Diseases / Q000175:diagnosis* / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D010750:Phosphoproteins; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy*; D011860:Radiography, Abdominal; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography
D002135:Calcium-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; D010750:Phosphoproteins; D005959:Glucosidases; C070368:PRKCSH protein, human