| Nephronophthisis | |
|---|---|
 | |
| Nephronophthisis has an autosomal recessive pattern of inheritance. | |
| Specialty | Medical genetics  |
| Symptoms | Polyuria[1] |
| Types | Infantile, Juvenile and Adult NPH[2] |
| Diagnostic method | Renal ultrasound[2] |
| Treatment | Hypertension and anemia management[2] |
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] Its incidence has been estimated to be 0.9 cases per million people in the United States, and 1 in 50,000 births in Canada.[5]
- ^ Cite error: The named reference
webwas invoked but never defined (see the help page). - ^ a b c Cite error: The named reference
genwas invoked but never defined (see the help page). - ^ "Nephronophthisis". Genetics Home Reference. Retrieved 2015-08-08.
- ^ Hurd TW, Hildebrandt F (2011). "Mechanisms of nephronophthisis and related ciliopathies". Nephron Exp. Nephrol. 118 (1): e9–e14. doi:10.1159/000320888. PMC 2992643. PMID 21071979.
- ^ page 831, Chapter 35, in: Avner, Ellis D.; Harmon, William; Niaudet, Patrick; Yoshikawa, Norishige (2009-08-20). Pediatric Nephrology (Avner, Pediatric Nephrology). Springer. ISBN 978-3-540-76327-7. (stating the incidence in the United States as 9 per 8.3 million people.