Nephronophthisis

Matthias T F Wolf, Friedhelm Hildebrandt

Research output: Contribution to journalArticle

102 Citations (Scopus)

Abstract

Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and the most frequent genetic cause of end-stage renal disease up to the third decade of life. It is caused by mutations in 11 different genes, denoted nephrocystins (NPHP1-11, NPHP1L). As an increasing number of these genes are identified, our knowledge of nephronophthisis is changing, thereby improving our understanding of the pathomechanisms in NPHP. Recent publications have described ciliary expression of nephrocystins together with other cystoproteins, such as polycystins 1 and 2 and fibrocystin. These findings have shifted our focus to a pathomechanism involving defects in ciliary function (ciliopathy) and planar cell polarity (PCP). In addition, discoveries of new nephrocystin genes have shown that the disease spectrum of NPHP is much broader than previously anticipated. Different forms of mutations within the same NPHP gene can cause different disease severity. In this review, we highlight the different hypotheses on the pathomechanisms for NPHP and underline the clinical variability of this disease. The clinical spectrum has become even more complex with the possibility of oligogenicity in NPHP.

Original languageEnglish (US)
Pages (from-to)181-194
Number of pages14
JournalPediatric Nephrology
Volume26
Issue number2
DOIs
StatePublished - Feb 2011

Fingerprint

Genes
Cystic Kidney Diseases
Cell Polarity
Mutation
Chronic Kidney Failure
Ciliopathies
polycystic kidney disease 2 protein
polycystic kidney disease 1 protein

Keywords

  • Ciliopathy
  • Cystic kidney disease
  • Joubert syndrome
  • Meckel-Gruber syndrome
  • Molecular genetics
  • Nephronophthisis
  • Senior-Loken syndrome

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health

Cite this

Nephronophthisis. / Wolf, Matthias T F; Hildebrandt, Friedhelm.

In: Pediatric Nephrology, Vol. 26, No. 2, 02.2011, p. 181-194.

Research output: Contribution to journalArticle

Wolf, MTF & Hildebrandt, F 2011, 'Nephronophthisis', Pediatric Nephrology, vol. 26, no. 2, pp. 181-194. https://doi.org/10.1007/s00467-010-1585-z
Wolf, Matthias T F ; Hildebrandt, Friedhelm. / Nephronophthisis. In: Pediatric Nephrology. 2011 ; Vol. 26, No. 2. pp. 181-194.
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