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Nephronophthisis (NPH)

Definition

NPH  is an autosomal recessive inherited disease  characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. The estimated incidence varies from 1:50,000 to 1:1,000,000.

On average nephronophthisis is diagnosed 3.5 years after onset of symptoms as a result of the variable and nonspecific presentations. Three age-based clinical subtypes are recongnized: infantile, juvenile, and adolescent/adult. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features; ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type). NPH is a renal ciliopathy. Ciliopathies are disorders of the primary cilium, a sensory organelle present on the apical surface of nearly all cell types, including renal tubular epithelial cells.

Why to perform genetic testing in cases with suspected NPH?

  • To better perform risk stratification and prognosis
  • To identify other relatives at risk to develop the disease

 

Our NPH panel

ADCY3, CEP290, DCDC2, GLIS2,  INVS, IQCB1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, SLC4A1, TRAF3IP1, TMEM67, TTC21B, WDR19

Important: All our panels can be modified based on the phenotype. Please contact us if you have questions

What to expect from this test: The yield of the genetic test is close to 40%

 

Recommended Literature

  • Nephronophthisis. Stokman M., et al., 2016 Jun 23. Gene Reviews. University of Washington, Seattle.
  • Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders. Srivastava S. et al., Front Pediatr. 2017; 5: 287.
  • Nephronophthisis: A review of genotype–phenotype correlation. Fenglan Luo and Yu‐Hong Tao. Nephrology (Carlton). 2018 Oct; 23(10): 904–911.

 

Download here interesting open access manuscripts on NPH