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Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening inherited human disorders and the most common hereditary kidney disease. [ 1 ] [ 2 ] It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes ...
Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder [5] [6] in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney. [7] These cysts may begin to develop in utero, in infancy, in childhood, or in adulthood. [8]
Cystic kidney disease includes various conditions related to the formation of cysts in one or both kidneys. The most common subset is polycystic kidney disease (PKD), which is a genetic anomaly with two subsets, autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD).
The term "non-dialysis-dependent chronic kidney disease" (NDD-CKD) is a designation used to encompass the status of those persons with an established CKD who do not yet require the life-supporting treatments for kidney failure known as kidney replacement therapy (RRT, including maintenance dialysis or kidney transplantation).
Kidney disease, or renal disease, technically referred to as nephropathy, is damage to or disease of a kidney. Nephritis is an inflammatory kidney disease and has several types according to the location of the inflammation. Inflammation can be diagnosed by blood tests. Nephrosis is non-inflammatory kidney disease.
Polycystic kidney disease (ADPKD) is a life threatening hereditary disorder; it is characterized by the development of fluid-filled cyst formation and expansion of the kidney and other organs. [3] It is an autosomal dominant disease, and it is the most common hereditary disorders with a rate of occurrence of approximately 1 in 1000. [4]
5310 18763 Ensembl ENSG00000008710 ENSMUSG00000032855 UniProt P98161 O08852 RefSeq (mRNA) NM_000296 NM_001009944 NM_013630 RefSeq (protein) NP_000287 NP_001009944 NP_038658 Location (UCSC) Chr 16: 2.09 – 2.14 Mb Chr 17: 24.55 – 24.6 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Polycystin 1 (PC1) is a protein that in humans is encoded by the PKD1 gene. Mutations of PKD1 are ...
Exner syndrome, also known as serpentine fibula polycystic kidney syndrome, [1] is a rare disorder, typified by the afflicted person having oddly formed, s-shaped fibulas as well as the development of numerous cysts in the kidneys.
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