Juvenile nephronophthisis
Overview
A rare inherited kidney disorder characterized by formation of cysts inside the kidney, kidney fibrosis and tubular atrophy which leads to progressive kidney failure.
Symptoms
* Thickening of kidney filtration tissues * End-stage kidney disease usually by 10-13 years of age * Polyuria * Enuresis * Polydipsia * Inability to concentrate urine * Kidney failure * Metabolic acidosis * Anemia * Growth retardation * Renal salt wasting * Impaired kidney function
Causes
Several genes responsible for juvenile nephronophthisis have been identified, including NPHP1, NPHP3, and NPHP4,. Deletions and/or mutations in NPHP1 have been identified in 30% of those with juvenile nephronophthisis, with or without cerebellar or other features. In addition, the AHI1 and CEP290 genes are associated with Joubert syndrome and complications of retinal dystrophy and/or nephronophthisis. However, these do not explain all cases of juvenile nephronophthisis, and the genetics of this disorder remain complex. It is likely that other genes that cause this condition exist.
Treatment
Presently, there is no cure for juvenile nephronophthisis. It is recommended that affected individuals see the appropriate specialists necessary to help monitor their various clinical features. Suggested specialists include a nephrologist (kidney specialist), ophthalmologist (eye doctor), geneticist and neurologist, as well as any others recommended by your doctor.