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Polycystic kidney disease [PDF]
Nature Reviews Disease Primers, 2017 Cystic kidneys are common causes of end-stage renal disease, both in children and in adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are cilia-related disorders and the two main forms of monogenic cystic kidney diseases.
C. Bergmann +5 more
semanticscholar +9 more sources
MicroRNAs and Polycystic Kidney Disease [PDF]
Kidney Medicine, 2020 Important advances have been made regarding the diagnosis and management of polycystic kidney diseases. Care of patients with polycystic kidney diseases has moved beyond supportive care for complications and chronic kidney disease to new potentially ...
Dantong Li, Liangzhong Sun
doaj +4 more sources
Polycystic horseshoe kidney [PDF]
Clinical and Experimental Nephrology, 2013 The association between ADPKD and horseshoe kidney is rare (1 in 134,000 to 1 in 8 million cases), and is reported in fewer than 20 cases in the literature. Co-occurrence of these diseases may lower the age of renal failure and favour the occurrence of symptoms. In this case, we performed a laparoscopic partial nephrectomy of the left renal unit of the
Riccio E +3 more
+11 more sources
The American Journal of the Medical Sciences, 1917 n ...
Braasch,, Clark, John G.
openaire +2 more sources
Kidney: polycystic kidney disease [PDF]
WIREs Developmental Biology, 2014 Polycystic kidney disease (PKD) is a life‐threatening genetic disorder characterized by the presence of fluid‐filled cysts primarily in the kidneys. PKD can be inherited as autosomal recessive (ARPKD) or autosomal dominant (ADPKD) traits. Mutations in either the PKD1 or PKD2 genes, which encode polycystin 1 and polycystin 2, are the underlying cause of
Gregory B. Vanden Heuvel +2 more
openaire +3 more sources
Polycystic Kidney Disease [PDF]
New England Journal of Medicine, 1989 The Polycystic Kidney Disease (PKD) is a genetic disease which is characterized by the gradual emergence of cystic lesions in the kidneys, which replace the renal parenchyma causing deterioration of its function to stage 5. The PKD is one of the causes of Chronic Kidney Disease on renal replacement therapy (RRT).
Lavie, C.J. +3 more
openaire +4 more sources
Horseshoe polycystic kidney [PDF]
Clinical Kidney Journal, 2013 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.
Martin Drage, Hannah Maple
openaire +3 more sources
Journal of Cell Science, 2020 Approximately 15% of autosomal dominant polycystic kidney disease (ADPKD) is caused by variants in PKD2. PKD2 encodes polycystin-2, which forms an ion channel in primary cilia and endoplasmic reticulum (ER) membranes of renal collecting duct cells ...
T. Vien +9 more
semanticscholar +1 more source
Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies.
American Society of Nephrology. Clinical Journal, 2020 Autosomal dominant polycystic kidney disease is the most common monogenic cause of ESKD. Genetic studies from patients and animal models have informed disease pathobiology and strongly support a "threshold model" in which cyst formation is triggered by ...
M. Lanktree +4 more
semanticscholar +1 more source