Genetics and pathogenesis of nephronophthisis
- Patrick Niaudet, MD
Patrick Niaudet, MD
- Section Editor — Pediatric Nephrology
- Professor of Pediatrics
- Hôpital Necker-Enfants Malades, Paris, France
- Section Editors
- Tej K Mattoo, MD, DCH, FRCP
Tej K Mattoo, MD, DCH, FRCP
- Section Editor — Pediatric Nephrology
- Professor of Pediatrics
- Wayne State University School of Medicine
- Ronald D Perrone, MD
Ronald D Perrone, MD
- Section Editor — Cystic Disease
- Professor of Medicine
- Tufts University School of Medicine
Nephronophthisis (NPHP) is an autosomal recessive genetically heterogenic disorder with identified mutations in a number of genes that encode proteins involved in the function of primary cilia, basal bodies, and centrosomes.
These gene defects result in the characteristic findings of NPHP:
●Autosomal recessive inheritance
●Reduced urinary concentrating ability with a bland urinary sediment
●Chronic tubulointerstitial nephritis and progression to end-stage renal disease (ESRD) generally before the age of 20 years
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