Directory of Congenital Nephrosis Resources

Home > Health > Conditions and Diseases > Genitourinary Disorders > Kidney > Congenital Nephrosis

Congenital nephrosis was the first monogenic entity found to be enriched in the Finnish population. This nephrotic syndrome of newborns is due to a deficiency of nephrine, a transmembrane podocyte adhesion molecule at the glomerular slit diaphragm. The disease is detected soon after delivery of a baby with a large placenta. Proteinuria, ascites, edema, and hypoproteinemia are the main findings; causing to failure to thrive and susceptibility to infections. The nephrotic manifestations are resistant to conventional drug therapy and without renal transplantation the patients succumb during the first two years of life.

Resources in This Category

• Congenital Nephrotic Syndrome, Finnish Type

  http://www.orpha.net/data/patho/GB/uk-CNF.pdf
  Orphanet description of the disease by Professor Patrick Niaudet.

• Human Laminin β2 Deficiency Causes Congenital Nephrosis with Mesangial Sclerosis and Distinct Eye Abnormalities

  http://hmg.oxfordjournals.org/content/13/21/2625.full.pdf
  Full text of paper by Zenker et al.

• Online Mendelian Inheritance in Man

  http://omim.org/entry/256300
  Detailed references and diagnostic information.

Related Categories

• Home > Health > Conditions and Diseases > Genitourinary Disorders > Congenital Anomalies
• Home > Regional > Europe > Finland > Health > Conditions and Diseases

 

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