SCIENTIFIC BACKGROUND

AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP83, DCDC2, GLIS2, IFT172, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, PAX2, RPGRIP1L, SDCCAG8, SLC41A1, TMEM216, TMEM237, TMEM67, TTC21B, WDR19, XPNPEP3, ZNF423

Scientific Background

Nephronophthisis (NPHP) is an autosomal recessive inherited tubulointerstitial kidney disease, which belongs to the so-called ciliopathies. It is caused by a dysfunction of primary cilia. The incidence in Europe is estimated at approximately 1:50,000. The kidneys may be affected in isolation, but extrarenal manifestations such as retinitis pigmentosa (Senior-Løken syndrome), oculomotor apraxia (Cogan syndrome) as well as optic nerve coloboma and cerebellar vermis aplasia (Joubert syndrome) are also observed in 10‑40% of patients. The disease is phenotypically and genetically heterogeneous. So far, pathogenic variants in over 25 genes have been identified in association with NPHP. NPHP is divided into infantile (<4 years), juvenile (about 13 years) and adolescent/adult (about 19 years) forms depending on the average age at which terminal renal failure occurs. The most frequent form is juvenile NPHP, in which a homozygous deletion of the NPHP1 gene can be found in about 30-60% of patients. No genetic cause can be found in about 40-60% of NPHP patients.

 

References

Titieni et König 2018, medgen 30:461 / Luo et Tao 2018, Nephrology (Carlton) 23:904 / König et al. 2017, Clin J Am Soc Nephrol 12:1974 / Chaki et al. 2011, Kidney Int 80:1239 / Hoefele et al. 2007, Der Nephrologe 2:372 / Hildebrandt & Omran 2001, Pediatr Nephrol 16:168 / Hildebrandt et al. 1997, Kidney 51:261

GENES

AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP83, DCDC2, GLIS2, IFT172, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, PAX2, RPGRIP1L, SDCCAG8, SLC41A1, TMEM216, TMEM237, TMEM67, TTC21B, WDR19, XPNPEP3, ZNF423

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