Nephronophthisis and related syndromes

Research output: Contribution to journalReview article

52 Scopus citations

Abstract

Purpose of review 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. Recent findings 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. Summary 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.

Original languageEnglish (US)
Pages (from-to)201-211
Number of pages11
JournalCurrent opinion in pediatrics
Volume27
Issue number2
DOIs
StatePublished - Jan 1 2015

    Fingerprint

Keywords

  • Jeune syndrome
  • Joubert syndrome
  • ciliopathy
  • nephronophthisis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this