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Xu, R. Nephronophthisis. Encyclopedia. Available online: https://encyclopedia.pub/entry/4503 (accessed on 28 September 2026).
Xu R. Nephronophthisis. Encyclopedia. Available at: https://encyclopedia.pub/entry/4503. Accessed September 28, 2026.
Xu, Rita. "Nephronophthisis" Encyclopedia, https://encyclopedia.pub/entry/4503 (accessed September 28, 2026).
Xu, R. (2020, December 23). Nephronophthisis. In Encyclopedia. https://encyclopedia.pub/entry/4503
Xu, Rita. "Nephronophthisis." Encyclopedia. Web. 23 December, 2020.
Nephronophthisis
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/nephronophthisis

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). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.

genetic conditions

References

  1. Benzing T, Schermer B. Clinical spectrum and pathogenesis of nephronophthisis.Curr Opin Nephrol Hypertens. 2012 May;21(3):272-8. doi:10.1097/MNH.0b013e3283520f17. Review.
  2. Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, HanuschH, Brandis M. A novel gene encoding an SH3 domain protein is mutated innephronophthisis type 1. Nat Genet. 1997 Oct;17(2):149-53.
  3. Hurd TW, Hildebrandt F. Mechanisms of nephronophthisis and relatedciliopathies. Nephron Exp Nephrol. 2011;118(1):e9-14. doi: 10.1159/000320888.
  4. Saunier S, Calado J, Benessy F, Silbermann F, Heilig R, Weissenbach J,Antignac C. Characterization of the NPHP1 locus: mutational mechanism involved indeletions in familial juvenile nephronophthisis. Am J Hum Genet. 2000Mar;66(3):778-89.
  5. Wolf MT, Hildebrandt F. Nephronophthisis. Pediatr Nephrol. 2011Feb;26(2):181-94. doi: 10.1007/s00467-010-1585-z.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 793
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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