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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 ...
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.
Gabow 1990 talks about autosomal dominant polycystic kidney disease and how this disease is genetic. They go on to say "Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease, affecting a half million Americans. The clinical phenotype can result from at least two different gene defects.
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).
Creutzfeldt–Jakob disease: CKD Chronic kidney disease: CLOVES syndrome Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities syndrome CML Chronic myelogenous leukemia: CMs Chiari malformations: CMT disease Charcot–Marie–Tooth disease: CMT1A Charcot–Marie–Tooth disease type 1A CMT1B
Bright's disease is a historical classification of kidney diseases that are described in modern medicine as acute or chronic nephritis. [1] It was characterized by swelling and the presence of albumin in the urine , and was frequently accompanied by high blood pressure and heart disease .
polycystic kidney disease: PKP: penetrating keratoplasty: PKU: phenylketonuria (PKU card—see Guthrie test) PLAT: tissue plasminogen activator: PLIF: posterior lumbar interbody fusion (a type of spinal fusion) PLT: platelets: PM: post meridiem (in the afternoon) PMB: post-menopausal bleeding (bleeding after menopause) PMD: primary medical ...