title: Nephronophthisis and related syndromes.
abstract: OBJECTIVE
  Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and is one of the most common genetic disorders causing end-stage renal disease (ESRD) in children and adolescents. NPHP is a genetically heterogenous disorder with 20 identified genes. NPHP occurs as an isolated kidney disease, but approximately 15% of NPHP patients have additional extrarenal symptoms affecting other organs [e.g. eyes, liver, bones and central nervous system (CNS)]. The pleiotropy in NPHP is explained by the finding that almost all NPHP gene products share expression in primary cilia, a sensory organelle present in most mammalian cells. If extrarenal symptoms are present in addition to NPHP, these disorders are classified as NPHP-related ciliopathies (NPHP-RC). This review provides an update about recent advances in the field of NPHP-RC.
  
  
  RESULTS
  The identification of novel disease-causing genes has improved our understanding of the pathomechanisms contributing to NPHP-RC. Multiple interactions between different NPHP-RC gene products have been published and outline the interconnectivity of the affected proteins and shared pathways.
  
  
  CONCLUSIONS
  The significance of recently identified genes for NPHP-RC is discussed and the complex role and interaction of NPHP proteins in ciliary function and cellular signalling pathways is highlighted.
authors: Division of Pediatric Nephrology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
authors: Matthias T F
authors: MT
authors: Wolf
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000378:metabolism*; D000293:Adolescent; D002648:Child; D002923:Cilia / Q000473:pathology* / Q000502:physiology; D003598:Cytoskeletal Proteins; D005808:Genes, Recessive; D006801:Humans; D007668:Kidney / Q000473:pathology*; D052177:Kidney Diseases, Cystic / Q000150:complications / Q000151:congenital* / Q000473:pathology / Q000503:physiopathology; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D008565:Membrane Proteins / Q000378:metabolism*; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D015398:Signal Transduction
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human
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