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Renal Cystic Disease (renal + cystic_disease)

Distribution by Scientific Domains
Medical Sciences50%

Selected Abstracts

Cystic kidney diseases and planar cell polarity signaling

CLINICAL GENETICS, Issue 2 2009
RL Bacallao
Renal cystic diseases are a major clinical concern as they are the most common genetic cause of end-stage renal disease. While many of the genes causing cystic disease have been identified in recent years, knowing the molecular nature of the mutations has not clarified the mechanisms underlying cyst formation. Recent research in model organisms has suggested that cyst formation may be because of defective planar cell polarity (PCP) and/or ciliary defects. In this review, we first outline the clinical features of renal cystic diseases and then discuss current research linking our understanding of cystic kidney disease to PCP and cilia. [source]

Successful liver transplantation in a child with Caroli's disease

PEDIATRIC TRANSPLANTATION, Issue 4 2008
Constance Meier
Abstract:, CD is a rare autosomal recessive disease, characterized by multifocal cystic dilatation of intrahepatic bile ducts. The course of the disease is characterized by intrahepatic cholelithiasis, recurrent episodes of cholangitis, because of cholelithiasis, hepatic abscesses often ending in death caused by uncontrolled infection. Other conditions such as choledochal cyst and renal cystic disease are frequently associated, and patients have a higher risk for the development of cholangiocarcinoma. Endoscopic drainage of the bile duct is palliative and ineffective. OLT appears to be the treatment of choice. In monolobar cases partial liver resection has been shown to be a curative therapeutic option. We report on the course of disease in a Turkish girl who was diagnosed with CD in the neonatal period. At the age of 8.2 yr, she received OLT and is in good health 57 months post-transplantation. [source]

Renal oncocytosis and multiple papillary adenomas with oncocytoma as dominant nodule coexisting with papillary carcinoma in a patient with diabetic glomerulosclerosis, acquired renal cystic disease and B cell lymphoma,

APMIS, Issue 10 2008
Roberta Mazzucchelli
First page of article [source]

Cystic kidney diseases and planar cell polarity signaling

CLINICAL GENETICS, Issue 2 2009
RL Bacallao
Renal cystic diseases are a major clinical concern as they are the most common genetic cause of end-stage renal disease. While many of the genes causing cystic disease have been identified in recent years, knowing the molecular nature of the mutations has not clarified the mechanisms underlying cyst formation. Recent research in model organisms has suggested that cyst formation may be because of defective planar cell polarity (PCP) and/or ciliary defects. In this review, we first outline the clinical features of renal cystic diseases and then discuss current research linking our understanding of cystic kidney disease to PCP and cilia. [source]