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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 ...
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 ...
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.
Other names. Acroosteolysis with osteoporosis and changes in skull and mandible. Specialty. Nephrology. 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. [2]
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 (PKD3) is an autosomal dominant inheritance that leads to renal cysts. It is related to the liver cysts that sometimes causes organ dysfunction. It is usually detected in middle to late aged individuals developing severe cysts in kiddy and liver. However, the renal disease is mild and very few patients have ...
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 ]
The first group, polycystic kidney disease 1 (PKD1)-like, contains polycystin-1 (Previously known as TRPP1), PKDREJ, PKD1L1, PKD1L2, and PKD1L3. Polycystin-1 contains numerous N-terminal adhesive domains that are important for cell-cell contact. [1] This group of subunits also contain a large extracellular domain with numerous polycystin motifs.
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