Patients with autosomal dominant polycystic kidney disease become symptomatic and are diagnosed usually at adulthood. The rate of nephrolithiasis in these patients is 5-10 times the rate in the general population, and both anatomic and metabolic abnormalities play role in the formation of renal stones. However, nephrolithiasis is rare in childhood age group. In this paper, an 11-year-old child ...

We report a case of a 46-year-old woman with hypertension and autosomal dominant polycystic kidney disease who presented with chest pain and was found to have spontaneous coronary artery dissection (SCAD) on diagnostic catheterization. We review the pathogenesis, management and prognosis of SCAD. We conclude that in patients with polycystic kidney disease who present with angina pectoris and po...

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disease characterized by a malformation complex which includes cystically dilated tubules in the kidneys and ductal plate malformation in the liver. The disorder is observed primarily in infancy and childhood, being responsible for significant pediatric morbidity and mortality. All typical forms of ARPKD are caused by mutatio...

The average weight of a kidney is approximately 135 gm, measuring on average 10 × 6 × 4 cm. In hereditary conditions, autosomal dominant and autosomal recessive polycystic kidney disease, the shape, size, and the weight can be significantly abnormal, causing progressive renal failure, often necessitating dialysis or renal transplant for survival. We report a case of adult polycystic kidney dise...

In light of recent developments in the fields of genetics, molecular, cell and developmental biology, the kidney is receiving increasing attention as a model system for organ development and human diseases. Gene disruption experiments have provided evidence for the essential role of a number of proteins in the earliest phase of nephron development, but very little is known about the identity of...

BACKGROUND/AIMS Cystic epithelia in polycystic kidney disease display features similar to malignant cells. Thiazolidinediones have been shown to have anti-neoplastic properties, therefore we tested the hypothesis that pioglitazone reduces cyst formation, improves renal function, and prolongs survival in a mouse model of polycystic kidney disease. METHODS PC-Pkd1-KO mice, which have homozygous...

The association of congenital hepatic fibrosis (CHF) with autosomal recessive polycystic kidney disease (ARPKD) is well known and occurs in approximately 50% of cases. However the association of CHF with autosomal dominant polycystic kidney disease (ADPKD) is less well known and less well documented. We report a child with neonatal onset of hypertension due to ADPKD who later develops portal hy...

Polycystic liver disease (PCLD) is characterized by the growth of fluid-filled cysts of biliary epithelial origin in the liver. Although the disease is often asymptomatic, it can, when severe, lead to complications requiring surgical therapy. PCLD is most often associated with autosomal dominant polycystic kidney disease (ADPKD); however, families with an isolated polycystic liver phenotype wit...

Renal cystic diseases encompass a broad group of disorders with variable phenotypic expression. Cystic disorders can present during infancy, childhood, or adulthood. Often, but not always, they can be distinguished by the clinical features including age at presentation, renal imaging characteristics, including cyst distribution, and the presence/distribution of extrarenal manifestations. It is ...

BACKGROUND Autosomal dominant polycystic kidney disease, the most frequent inherited polycystic disease, is a systemic disorder characterised by the development of numerous and bilateral kidney cysts leading to chronic renal failure. Extrarenal cysts are located mainly in the liver but also in various organs including the pancreas. To our knowledge, complications of pancreatic cysts in this dis...