Nephronophthisis is a ciliopathy. Other known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, Alström syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Specialty: Medical genetics.
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).
Jun 23, 2016 · The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are Bookshelf ID: NBK368475.
Nephronophthisis familial, adult -- spastic quadriparesis: A very rare syndrome characterized mainly by progressive kidney destruction and spasticity and weakness of arms and legs. More detailed information about the symptoms, causes, and treatments of Nephronophthisis familial, adult -- spastic quadriparesis is available below.