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.

Nephronophthisis is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.

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 …

2016年6月23日 · 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 (although later-onset ESKD has been reported).

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 …

Nephronophthisis (NPHP) represents an autosomal recessive cystic kidney disease and is one of the most common genetic disorders causing end-stage renal disease (ESRD) in children and adolescents. NPHP is a genetically heterogenous disorder with twenty identified genes.

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 and autosomal dominant tubulointerstitial kidney disease are a group of hereditary disorders that affect the development of microscopic tubules deep within the kidneys that concentrate the urine and reabsorb sodium.

Nephronophthisis is a complex, genetically inherited kidney disorder characterized by inflammation and fibrosis of the kidney's tubules, ultimately leading to chronic kidney disease. It is the most common genetic cause of end-stage renal disease (ESRD) in this demographic.

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.