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...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and is associated with concerning long-term implications for kidney function and cardiovascular health. Early intervention is needed in order to mitigate these long-term complications. Herein, we review important findings from recent clinical trials in ADPKD and their relevance to affected children...

Mutations in the polycystin genes, PKD1 or PKD2, results in Autosomal Dominant Polycystic Kidney Disease (ADPKD). Although a genetic basis of ADPKD is established, we lack a clear understanding of polycystin proteins' functions as ion channels. This question remains unsolved largely because polycystins localize to the primary cilium - a tiny, antenna-like organelle. Using a new ADPKD mouse mode...

We herein report two rare cases of bilateral renal neoplasms associated with autosomal dominant polycystic kidney disease (ADPKD). Case 1: Bilateral nephrectomy was performed on bilateral renal masses in a 58-year-old man with ADPKD. Case 2: Bilateral nephrectomy was performed on bilateral renal masses in a 32-year-old man with clinically suspected ADPKD. In case 1, angiomyolipoma (AML) and pap...

Autosomal dominant polycystic kidney disease (ADPKD) is a common systemic genetic disease which comprises 8 to 10% of patients treated by dialysis and transplantation. Breakthroughs in molecular genetics and cell biology have led to new insights into cyst formation and growth. Until the specific genetic defects are identified, the management of this disorder will necessarily be empiric. This pa...

Autosomal dominant polycystic kidney disease (ADPKD) is a common hereditary kidney disease caused due to a mutation in PKD1 gene and the PKD2 gene located at chromosome level 16 and chromosome 4. ADPKD often leads to progressive kidney (renal) failure, primarily due to continued enlargement of the cysts and replacement of normal kidney tissue. The present case is of a 70-year-old male diabetic ...

Infection of renal or hepatic cyst is a serious complication of autosomal dominant polycystic kidney disease (ADPKD) and early diagnosis is crucial for the correct management. We report a case of 64-year-old male with ADPKD, who required renal transplantation some years before, with recent recurrent episodes of fever and abdominal pain, who underwent 18F-FDG PET/CT twice at 18 months intervals,...

Autosomal dominant polycystic kidney disease (ADPKD) with concomitant horseshoe is an extremely rare entity. In this case, we report a 45-year-old male patient ADPKD and who demonstrated hypertension, urological complications discomfort symptoms such as pain, breathing difficulties abdominal meteorism. After preoperative assessment planning, the underwent nephrectomy. Bilateral nephrectomy with...

This article is also accessible online at: http://BioMedNet.com/karger Dear Sir, We read with interest the paper by Hayashi et al. [1] reporting the expression of AQP2 and AQP3 in cyst-lining epithelial cells from ADPKD kidneys. The authors suggest that about 30% of the cysts in ADPKD are derived from collecting-duct cells and that these cells remain well differentiated in terms of AQP expressi...

Tung-Min Yu and colleagues report an increased susceptibility to colon, liver, and kidney cancer in patients with autosomal dominant polycystic kidney disease (ADPKD) before receiving renal replacement therapy, when compared with patients without the disease but with a similar (or no) degree of renal impairment. Large studies have shown an excess risk of cancer in patients with chronic kidney d...