BACKGROUND Cyst infections is not common in the patients with autosomal dominant polycystic kidney disease (ADPKD) however it may pose major problems to the clinicians because the diagnosis is hampered by lack of reliable imaging techniques for identification of the infected cysts and treatment may be difficult due to poor penetration of antibiotics into the cysts. CASE PRESENTATION We presen...

Polycystin-1, which is encoded by a gene that is mutated in autosomal dominant polycystic kidney disease (ADPKD), is involved in cell-matrix interactions as well as in ciliary signaling. The precise mechanisms by which it functions, however, remain unclear. Here we find that polycystin-1 undergoes a proteolytic cleavage that releases its C-terminal tail (CTT), which enters the nucleus and initi...

Autosomal dominant polycystic disease (ADPKD) is an inherited disorder characterized by the development within renal tubules of innumerable cysts that progressively expand to cause renal insufficiency. Tubule cell proliferation and transepithelial fluid secretion combine to enlarge renal cysts, and 3'-5'-cyclic adenosine monophosphate (cAMP) stimulates that growth. The antidiuretic hormone, arg...

Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are two different genetic diseases. Although these two diseases are associated very rarely, the association is well recognized. This occurs due to a large deletion involving both PKD-1 and TSC-2 genes on chromosome 16. This is also known as TSC-2/PKD-1 contiguous gene syndrome. We report a 26-year-old fema...

A 76-year-old man with autosomal dominant polycystic kidney disease (ADPKD) was admitted complaining of severe edema of bilateral lower extremities. Computed tomography (CT) of his abdomen revealed an enlarged hepatic cyst with intra-cystic hemorrhage, and massive thrombosis in the inferior vena cava (IVC). The extrinsic mechanical stress on the IVC seemed to induce thrombosis within the IVC, a...

A 38-year-old man with known autosomal dominant polycystic kidney disease (ADPKD) was electively admitted to our institution for open bilateral nephrectomies. A routine computed tomography scan had demonstrated a cyst at the upper pole of the left kidney with changes suspicious of malignancy and para-aortic adenopathy. His serum creatinine level was 510 mmol/L and the estimated glomerular filtr...

Autosomal-dominant polycystic kidney disease (ADPKD) affects up to 12 million individuals and is the fourth most common cause for renal replacement therapy worldwide. There have been many recent advances in the understanding of its molecular genetics and biology, and in the diagnosis and management of its manifestations. Yet, diagnosis, evaluation, prevention, and treatment vary widely and ther...

Recent advances in defining the genetic mechanisms of disease causation and modification in autosomal dominant polycystic kidney disease (ADPKD) have helped to explain some extreme disease manifestations and other phenotypic variability. Studies of the ADPKD proteins, polycystin-1 and -2, and the development and characterization of animal models that better mimic the human disease, have also he...

a. We recommend screening for polycystic liver disease in all patients diagnosed with autosomal dominant polycystic kidney disease using abdominal ultrasound (1C). b. We recommend that all female patients with autosomal dominant polycystic kidney disease and liver cysts undergo counseling regarding the risks of pregnancy and exogenous estrogen exposure in worsening liver cyst growth (1C). c. We...

Potter syndrome (PS) is a term used to describe a typical physical appearance, which is the result of dramatically decreased amniotic fluid volume secondary to renal diseases such as bilateral renal agenesis (BRA). Other causes are abstraction of the urinary tract, autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant polycystic kidney disease (ADPKD) and renal hypoplasia. I...