Nephronophthisis 1
Juvenile nephronophthisis 1 is an atosomal recessive disorder characterized by medullary cysts and progressive renal failure.
Epidemiology
Juvenile nephronophthisis 1 is the most common of all types of nephronophthisis. It accounts for most of end stage renal disease during childhood and adolescence (6-10%). The incidence is 1:50,000 live births.
Systematic
Nephronophthisis
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Nephronophthisis 1
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NPHP1
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Nephronophthisis 2
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Nephronophthisis 3
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Nephronophthisis 4
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Nephronophthisis 5
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Nephronophthisis 6
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Nephronophthisis 9
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References:
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Kiser RL et al. (2004) Medullary cystic kidney disease type 1 in a large Native-American kindred. [^] |
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Saunier S et al. (2000) Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. [^] |
| 3. |
Hildebrandt F et al. (1997) A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. [^] |
