Nephronophthisis
From Wikipedia, the free encyclopedia
 |
This article needs additional citations for verification. Please help improve this article by adding reliable references. Unsourced material may be challenged and removed. (March 2008) |
| Nephronophthisis Classification and external resources |
|
| ICD-10 | Q61.8 |
|---|---|
| ICD-9 | 753.16 |
Nephronophthisis is a genetic disorder of the kidneys which affects children. 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.
Contents |
[edit] Symptoms
Infantile, juvenile, and adolescent forms of nephronophthisis have been identified. Although the range of characterizations is broad, patients typically present with polyuria (production of large volume of urine), polydipsia (excessive liquid intake), and mild proteinuria (the abnormal appearance of protein in the urine), and after several months to years, end-stage kidney disease, a condition necessitating either dialysis or a kidney transplant in order to survive.
Approximately 10% of individuals of with nephronophthisis also have so-called "extra-renal symptoms" which can include blindness, liver problems, mental retardation, and neurologic involvement in which the cerebellum is affected.
[edit] Histology
Histologically, nephronophthisis is characterized by fibrosis and the formation of cysts in a specific region of the kidney. In contrast to other cystic diseases of the kidney in which the kidneys are larger than usual, in nephronophthisis the kidneys are small to normal in size.
[edit] Pathophysiology
From sequencing the DNA of individuals and families with nephronophthisis, scientists have identified thus far 8 different genes in which mutations can cause the disease. These genes are called NPHP1 - NPHP8, and the proteins for which they encode are known as the nephrocystins. Although the biological function of these proteins is not yet known, they all localize at least in part to an organelle in the cell called the primary cilia.
[edit] References
Fanconi, G., Hanhart, E., Von Albertini, A., Uehlinger, E., Dolivo, G., and Prader, A. (1951). Die familiaere juvenile Nephronophthise. (Die idiopathische Parenchymatose). Helv Paediat Acta 6:1-49.
Saunier S., Salomon R., and Antignac C. (2005). Nephronophthisis. Curr Opin Genet Dev 15(3): 324-31.
Hildebrandt, F. and Zhou, W. (2007). Nephronophthisis-associated ciliopathies. J Am Soc Nephrol 18(6): 1855-71.
[edit] External links
Mendelian Online Inheritance in Man (OMIM) 256100[1]
|
|||||||||||||||||||||||
