Nephronophthisis - Wikipedia
网页Nephronophthisis is a genetic disorder of the kidneys which affects children. [3] It is classified as a medullary cystic kidney disease. The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure. It is a form of ciliopathy. [4]
Clinical manifestations, diagnosis, and treatment of nephronophthisis …
网页2023年4月30日 · Nephronophthisis (NPHP) is a clinical condition caused by a group of autosomal recessive cystic kidney disorders that typically progresses to end-stage kidney disease (ESKD).
Nephronophthisis: MedlinePlus Genetics
网页Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue).
肾单位肾痨/Nephronophthisis - 中文版GeneReviews
网页Nephronophthisis（意思是“正在消失的肾单位）是一种肾性纤毛病。 纤毛病是初级纤毛的失调，纤毛是几乎所有细胞类型的细胞顶表面上存在的感觉细胞器，包括肾小管上皮细胞。
Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf
网页2016年6月23日 · Clinical Characteristics of Nephronophthisis-Related Ciliopathies. Nephronophthisis (NPH) is characterized by polyuria and polydipsia resulting from reduced urine-concentrating ability, chronic tubulointerstitial nephritis, and progression to end-stage kidney disease (ESKD) typically before age 30 years …
Nephronophthisis | About the Disease | GARD - Genetic and Rare …
网页A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, cystic renal disease and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset.
Nephronophthisis - PMC - National Center for Biotechnology …
网页Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease, which represents the most frequent genetic cause for end-stage renal disease up to the third decade of life. Nephronophthisis is caused by mutations in eleven different genes called nephrocystins ( NPHP1-11, NPHP1L ).
Nephronophthisis: a pathological and genetic perspective
网页2023年11月6日 · Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and is one of the most frequent genetic causes for kidney failure (KF) in children and adolescents. Over 20 genes cause NPHP and over 90 genes contribute to renal ciliopathies often involving multiple organs.
Nephronophthisis - PMC - National Center for Biotechnology …
网页2008年7月8日 · Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form).
Nephronophthisis - PubMed
网页Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and the most frequent genetic cause of end-stage renal disease up to the third decade of life. It is caused by mutations in 11 different genes, denoted nephrocystins (NPHP1-11, NPHP1L).