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Nephronophthisis
- Source :
- Pediatric Nephrology (Berlin, Germany)
- Publisher :
- Springer Nature
-
Abstract
- Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form). In the juvenile form, a urine concentration defect starts during the first decade, and a progressive deterioration of renal function is observed in the following years. Kidney size may be normal, but loss of corticomedullary differentiation is often observed, and cysts occur usually after patients have progressed to end-stage renal failure. Histologic lesions are characterized by tubular basement membrane anomalies, tubular atrophy, and interstitial fibrosis. The infantile form is characterized by cortical microcysts and progression to end-stage renal failure before 5 years of age. Some children present with extrarenal symptoms: retinitis pigmentosa (Senior-Løken syndrome), mental retardation, cerebellar ataxia, bone anomalies, or liver fibrosis. Positional cloning and candidate gene approaches led to the identification of eight causative genes (NPHP1, 3, 4, 5, 6, 7, 8, and 9) responsible for the juvenile NPH and one gene NPHP2 for the infantile form. NPH and associated disorders are considered as ciliopathies, as all NPHP gene products are expressed in the primary cilia, similarly to the polycystic kidney disease (PKD) proteins.
- Subjects :
- Pathology
medicine.medical_specialty
Positional cloning
Ciliopathy
Genes, Recessive
Senior–Løken syndrome
Ciliopathies
Senior-Løken syndrome
Cystic kidney disease
Nephronophthisis
medicine
Polycystic kidney disease
Chronic renal failure
Humans
Cilia
Pediatrics, Perinatology, and Child Health
Child
Educational Review
Kidney
Polycystic Kidney Diseases
business.industry
Chronic tubulointerstitial nephritis
medicine.disease
medicine.anatomical_structure
Nephrology
Pediatrics, Perinatology and Child Health
Kidney Failure, Chronic
Nephritis, Interstitial
business
Retinitis Pigmentosa
Subjects
Details
- Language :
- English
- ISSN :
- 0931041X
- Volume :
- 24
- Issue :
- 12
- Database :
- OpenAIRE
- Journal :
- Pediatric Nephrology
- Accession number :
- edsair.doi.dedup.....d56a6d490c0dc231d9da6afb687020b8
- Full Text :
- https://doi.org/10.1007/s00467-008-0840-z