Congenital Nephrotic Syndrome Finnish Type

Common Name(s)

Congenital Nephrotic Syndrome Finnish Type

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. 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.   Although more commonly seen in individuals of Finnish descent, congenital nephrotic syndrome of Finnish type has been reported worldwide. 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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Nephrotic Syndrome Finnish Type" for support, advocacy or research.

werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Nephrotic Syndrome Finnish Type" for support, advocacy or research.

werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital Nephrotic Syndrome Finnish Type" returned 17 free, full-text research articles on human participants. First 3 results:

Novel NPHS1 gene mutation in an Iranian patient with congenital nephrotic syndrome of the Finnish type.
 

Author(s): Sonbol Ameli, Martin Zenker, Ameneh Zare-Shahabadi, Seyed Taher Esfahani, Abbas Madani, Maryam Monajemzadeh, Behnaz Bazargani, Nematollah Ataei, Niloofar Hajezadeh, Nima Rezaei

Journal: Nefrologia. 2013 ;33(5):747-9.

 

Last Updated: 3 Oct 2013

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Neutropenia in congenital nephrotic syndrome of the Finnish type: role of urinary ceruloplasmin loss.
 

Author(s): Tim Ulinski, Bilal Aoun, Julie Toubiana, Renata Vitkevic, Albert Bensman, Jean Donadieu

Journal: Blood. 2009 May;113(19):4820-1.

 

Last Updated: 8 May 2009

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Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.
 

Author(s): Beom Hee Lee, Yo Han Ahn, Hyun Jin Choi, Hee Kyung Kang, Sung-Do Kim, Byoung-Soo Cho, Kyung Chul Moon, Il Soo Ha, Hae Il Cheong, Yong Choi

Journal: J. Korean Med. Sci.. 2009 Jan;24 Suppl():S210-4.

 

Congenital nephrotic syndrome is defined as nephrotic syndrome which manifests in utero or during the first 3 months of life. The prototype of congenital nephrotic syndrome is congenital nephrotic syndrome of Finnish type (CNF, OMIM #602716), which is caused by loss-of-function mutations ...

Last Updated: 5 Feb 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Congenital Nephrotic Syndrome Finnish Type" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.