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PKD is caused by abnormal genes which produce a specific abnormal protein which has an adverse effect on tubule development. PKD is a general term for two types, each having their own pathology and genetic cause: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). [10] [11]
PKD causes numerous cysts to grow in the kidneys. These cysts are filled with fluid and if they grow excessively, changing the shape of them and making them larger, leading to kidney damage. [3] Mutations in genes PKD1 and PKD2 are responsible for autosomal dominant polycystic kidney disease (ADPKD), which is typically diagnosed in adulthood. [3]
Specialty. 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 ...
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.
Chronic kidney disease (CKD) is a type of long-term kidney disease, in which either there is a gradual loss of kidney function occurs over a period of months to years, or abnormal kidney structure (with normal function). [ 2 ][ 5 ] Initially generally no symptoms are seen, but later symptoms may include leg swelling, feeling tired, vomiting ...
Polycystic kidney disease, which causes large, fluid-filled cysts on the kidneys and sometimes the liver, can cause: Pain in the back or side; Healthy kidneys produce the hormone erythropoietin that stimulates the bone marrow to make oxygen-carrying red blood cells. As the kidneys fail, they produce less erythropoietin, resulting in decreased ...
Medullary cystic kidney disease (MCKD) is an autosomal dominant kidney disorder characterized by tubulointerstitial sclerosis leading to end-stage renal disease.Because the presence of cysts is neither an early nor a typical diagnostic feature of the disease, and because at least four different gene mutations may give rise to the condition, the name autosomal dominant tubulointerstitial kidney ...
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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