Matthias T F Wolf, Friedhelm Hildebrandt

Research output: Contribution to journalReview articlepeer-review

147 Scopus citations


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
Issue number2
StatePublished - Feb 2011


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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Nephrology


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