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nephronophthisis
Epidemiology:
- most common genetic cause of ESRD in childhood/adolescence [1]
Pathology:
1) may be associated with retinal pigment degeneration (retinal renal dysplasia syndrome)
2) shrunken kidneys
3) cystic changes in the renal medulla
4) alterations of tubular basement membranes,
5) renal tubular atrophy & dilatation
6) sclerosing tubulointerstitial nephropathy, renal interstitial fibrosis
7) renal cyst development predominantly at the corticomedullary junction
8) enlarged kidneys
9) renal concentrating defect &/or salt wasting [1]
10) may be associateed with hepatic fibrosis
11) situs inversus may be present
12) retinitis pigmentosa [1]
Genetics:
- autosomal recessive
- nephronophthisis 1 is associated with defects in NPHP1
- nephronophthisis 2 is associated with defects in NPHP2
- nephronophthisis 3 is associated with defects in NPHP3
- nephronophthisis 4 is associated with defects in NPHP4
- nephronophthisis 9 is associated with defects in NEK8
Clinical manifestations:
1) presents in childhood
2) polyuria
3) polydipsia
4) nocturia
5) progressive renal failure in young adulthood
Interactions
disease interactions
Specific
retinal renal dysplasia syndrome
General
genetic disease of the kidney
polycystic kidney disease
Database Correlations
OMIM correlations
References
- Medical Knowledge Self Assessment Program (MKSAP) 11, 17.
American College of Physicians, Philadelphia 1998, 2015
- OMIM :accession 604387
- Chaki M, Hoefele J, Allen SJ et al
Genotype-phenotype correlation in 440 patients with NPHP-
related ciliopathies.
Kidney Int. 2011 Dec;80(11):1239-45.
PMID: 21866095 Free PMC Article