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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 dominant polycystic kidney disease (ADPKD) is the most common of all the inherited cystic kidney diseases [12] [13] [14] with an incidence of 1:500 live births. [12] [14] Studies show that 10% of end-stage kidney disease (ESKD) patients being treated with dialysis in Europe and the U.S. were initially diagnosed and treated for ADPKD ...
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 ...
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]
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.
amyotrophic lateral sclerosis, also known as motor neurone disease ('MND), Lou Gehrig's disease or Charcot disease advanced life support: ALT: alanine transaminase: altern. d. every other day (from Latin alterno die) AMA: advanced maternal age (often defined as 35 years or greater) against medical advice antimitochondrial antibody American ...
5310 18763 Ensembl ENSG00000008710 ENSMUSG00000032855 UniProt P98161 O08852 RefSeq (mRNA) NM_000296 NM_001009944 NM_013630 RefSeq (protein) NP_000287 NP_001009944 NP_038658 Location (UCSC) Chr 16: 2.09 – 2.14 Mb Chr 17: 24.55 – 24.6 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Polycystin 1 (PC1) is a protein that in humans is encoded by the PKD1 gene. Mutations of PKD1 are ...