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Review
. 2018 Oct;23(10):904-911.
doi: 10.1111/nep.13393. Epub 2018 Jun 21.

Nephronophthisis: A review of genotype-phenotype correlation

Fenglan Luo  1   2 , Yu-Hong Tao  1
Affiliations
Review

Nephronophthisis: A review of genotype-phenotype correlation

Fenglan Luo et al. Nephrology (Carlton). 2018 Oct.

Abstract

Nephronophthisis is an autosomal recessive cystic kidney disease and one of the most common genetic disorders causing end-stage renal disease in children. Nephronophthisis is a genetically heterogenous disorder with more than 25 identified genes. In 10%-20% of cases, there are additional features of a ciliopathy syndrome, such as retinal defects, liver fibrosis, skeletal abnormalities, and brain developmental disorders. This review provides an update of the recent advances in the clinical features and related gene mutations of nephronophthisis, and novel approaches for therapy in nephronophthisis patients may be needed.

Keywords: cystic kidney disease; nephronophthisis; renal ciliopathy.

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Figures

Figure 1
Figure 1
Subcellular localization of different nephrocystin module.
Figure 2
Figure 2
Approach to clinical diagnosis of nephronophthisis (NPHP).
See this image and copyright information in PMC

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