Nephronophthisis cannot be detected by urinary screening program

Clin Pediatr (Phila). 2013 Aug;52(8):759-61. doi: 10.1177/0009922812441390. Epub 2012 Apr 20.
No abstract available

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adolescent
  • Biopsy, Needle
  • Cytoskeletal Proteins
  • Female
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Humans
  • Immunohistochemistry
  • Japan
  • Kidney Diseases, Cystic / complications
  • Kidney Diseases, Cystic / congenital*
  • Kidney Diseases, Cystic / genetics
  • Kidney Diseases, Cystic / pathology
  • Kidney Failure, Chronic / prevention & control
  • Mass Screening / methods
  • Membrane Proteins / genetics*
  • Needs Assessment
  • Risk Assessment
  • School Health Services / organization & administration
  • Severity of Illness Index
  • Urinalysis / methods*

Substances

  • Adaptor Proteins, Signal Transducing
  • Cytoskeletal Proteins
  • Membrane Proteins
  • NPHP1 protein, human

Supplementary concepts

  • Nephronophthisis, familial juvenile