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Diseases

Genetic and Rare Diseases Information Center (GARD)

Congenital nephrotic syndrome Finnish type


Other Names for this Disease
  • Nephrosis 1, congenital, Finnish type
  • Congenital nephrotic syndrome 1
  • Nephrosis, congenital
  • Finnish congenital nephrosis
  • NPHS1
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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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In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital nephrotic syndrome Finnish type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Nephrosis 1, congenital, Finnish type
  • Congenital nephrotic syndrome 1
  • Nephrosis, congenital
  • Finnish congenital nephrosis
  • NPHS1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.