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Medical genetics. 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 ...
Polycystic kidney disease. 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 ...
Cystic kidney disease. Cystic kidney disease refers to a wide range of hereditary, developmental, and acquired conditions [1] and with the inclusion of neoplasms with cystic changes, over 40 classifications and subtypes have been identified. Depending on the disease classification, the presentation may be at birth, or much later into adult life.
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.
Autosomal recessive polycystic kidney disease. Autosomal recessive polycystic kidney disease (ARPKD) is the recessive form of polycystic kidney disease. It is associated with a group of congenital fibrocystic syndromes. [5] Mutations in the PKHD1 (chromosomal locus 6p12.2) cause ARPKD. [6][7]
Polycystin 1. Polycystin 1 (PC1) is a protein that in humans is encoded by the PKD1 gene. [5][6] Mutations of PKD1 are associated with most cases of autosomal dominant polycystic kidney disease, a severe hereditary disorder of the kidneys characterised by the development of renal cysts and severe kidney dysfunction. [7]
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