One of the most striking features in autosomal dominant polycystic kidney disease (ADPKD) is the difference at onset age of end-stage renal disease (ESRD). Modifier genes may play a role in this phenotypic variability. The mutated nitric oxide synthase 3 gene (NOS3), have a modifier effect on the severity of ADPKD by impairment of NOS3 activity and decreasing of renal vascular nitric oxide prod...

ADPKD (Autosomal Dominant Polycystic Kidney Disease) is a severe genetic disorder with an estimated prevalence less than 4 patients per 10.000 inhabitants in EU. (1). ADPKD is characterised by the formation of renal cysts, which progressively compress normal tissue with loss of renal function and damage to adjacent tissues (2, 3). With progression of the disease patients reach the terminal stag...

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...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease. New data from Paul et al. suggest that mutations in the PKD1 and PKD2 genes may account for all cases of ADPKD. Further improvements in mutation detection methodologies are needed to determine the true relative frequency of PKD1 versus PKD2 as well as to establish the value of mutation type and loc...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease. There are some reports in the literature concerning unilateral ADPKD. However, in adults, only a few cases of unilateral ADPKD with agenesis of contralateral kidney have been reported. We present a case of unilateral ADPKD with agenesis of contralateral kidney in a 66-yr-old man. Radiographic image...

The hereditary forms of polycystic kidney disease autosomal dominant PKD (ADPKD) and recessive (ARPKD) are the main forms. ADPKD is a multifactorial disorder characterized by bilateral renal cysts commonly affects adult patients. most common extrarenal manifestations liver often incidental findings clinically insignificant. A case report has been reported with in kidneys autoimmune hemolytic an...

The development of a polycystic liver is characteristic the monogenic disorders: autosomal dominant kidney disease (ADPKD), recessive (ARPKD), and (ADPLD). Respectively two one genes mainly cause ADPKD ARPKD. In contrast, ADPLD caused by at least six different which combined do not even explain in over half population. Genetic testing performed to confirm likelihood developing PKD if renal ther...

Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent cause of genetic renal disease and accounts for 6-10% of patients on renal replacement therapy (RRT). Very few prospective, randomized trials or clinical studies address the diagnosis and management of this relatively frequent disorder. No clinical guidelines are available to date. This is a consensus statement presenting...

n engl j med 371;24 nejm.org december 11, 2014 2331 5. Pfeffer MA, Brenner BM, McMurray JJ. Aliskiren in type 2 diabetes and cardiorenal end points. N Engl J Med 2013;368:1065-6. 6. Luciano RL, Dahl NK. Extra-renal manifestations of autosomal dominant polycystic kidney disease (ADPKD): considerations for routine screening and management. Nephrol Dial Transplant 2014;29:247-54. 7. Chapman AB, To...

Autosomal-dominant polycystic kidney disease (ADPKD) is a common genetic disorder that frequently leads to renal failure. Mutations in polycystin-1 (PC1) underlie most cases of ADPKD, but the function of PC1 has remained poorly understood. No preventive treatment for this disease is available. Here, we show that the cytoplasmic tail of PC1 interacts with tuberin, and the mTOR pathway is inappro...