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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]
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 ...
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).
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]
Causes of chronic kidney disease include diabetes, high blood pressure, glomerulonephritis, and polycystic kidney disease. [5] [6] Risk factors include a family history of chronic kidney disease. [2] Diagnosis is by blood tests to measure the estimated glomerular filtration rate (eGFR), and a urine test to measure albumin. [8]
Diabetic nephropathy, also known as diabetic kidney disease, [5] is the chronic loss of kidney function occurring in those with diabetes mellitus. Diabetic nephropathy is the leading causes of chronic kidney disease (CKD) and end-stage renal disease (ESRD) globally. The triad of protein leaking into the urine (proteinuria or albuminuria ...
Removal of the kidney (nephrectomy) is strongly to be avoided. An asymptomatic angiomyolipoma that is growing larger than 3 cm is best treated with an mTOR inhibitor drug. Other renal complications spotted by imaging include polycystic kidney disease and renal cell carcinoma. Repeat chest HRCT in adult women every five to 10 years.
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.