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Congenital nephrotic syndrome Finnish type


Other Names for this Disease

  • CNF
  • Congenital nephrotic syndrome 1
  • Finnish congenital nephrosis
  • Nephrosis 1, congenital, Finnish type
  • Nephrosis, congenital
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Overview

Congenital nephrotic syndrome of Finnish type is a genetic condition of the kidney that presents in utero or within the first three months of life.[1] The syndrome is characterized by nephrotic syndrome (a group of symptoms including protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, and swelling), which progresses rapidly to end-stage kidney disease.[2][1]  Although more commonly seen in individuals of Finnish descent, congenital nephrotic syndrome of Finnish type has been reported worldwide. [1] Congenital nephrotic syndrome of Finnish type is inherited in an autosomal recessive fashion and is caused by mutations in a gene called NPHS1. At this time, kidney transplantation seems to be the only treatment available for this condition.[1]
Last updated: 8/31/2009

References

  1. Lee BH, Ahn YH, Choi HJ, Kang HK, Kim S, Cho B et al. J Korean Med Sci. 2009; http://jkms.org/Synapse/Data/PDFData/0063JKMS/jkms-24-S210.pdf. Accessed 8/31/2009.
  2. Nephrotic syndrome. MedlinePlus Medical Encyclopedia. August 14, 2007; http://www.nlm.nih.gov/MEDLINEPLUS/ency/article/000490.htm. Accessed 8/31/2009.
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  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
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Other Names for this Disease
  • CNF
  • Congenital nephrotic syndrome 1
  • Finnish congenital nephrosis
  • Nephrosis 1, congenital, Finnish type
  • Nephrosis, congenital
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.