Health  Vol.6 No.12 , June 2014
Congenital Nephrotic Syndrome of the Finnish Type: A Greek Case Report
ABSTRACT
Congenital Nephrotic Syndrome Type 1 (Congenital Nephrotic Syndrome of the Finnish Type—CNF) is an autosomal recessive disorder encoding by nephrin gene mutation which is a (transmembrane protein 1-homolog—NPHS1) structural component of the slit diaphragm responsible for the proper functioning of the renal filtration barrier. In NPHS1 kidneys there is an effacement of the foot processes of the podocytes and impaired glomerular filtration barrier leading to antenatal manifestations and end-renal stage of disease after birth. We present a case of this disease where sonographic appearance of the fetal kidneys had alerted the experts for further genetic investigation for congenital nephrotic syndrome.

Cite this paper
Stasinou, S. , Valasoulis, G. , Georgiou, I. , Maria, K. , Paraskevaidis, E. and Plachouras, N. (2014) Congenital Nephrotic Syndrome of the Finnish Type: A Greek Case Report. Health, 6, 1436-1439. doi: 10.4236/health.2014.612176.
References
[1]   Northrup, M., Mendez-Castillo, A., Brown, J.C., Frazier, S. and Luger, A.M. (2003) Congenital Nephrotic Syndrome, Finnish Type: Sonographic Appearance and Pathologic Correlation. Journal of Ultrasound in Medicine, 22, 1097-1099.

[2]   Kestila, M., Lenkkeri, U., Mannikko, M., Lamerdin, J., McCready, P., Putaala, H., et al. (1998) Positionally Cloned Gene for a Novel Glomerular Protein—Nephrin—Is Mutated in Congenital Nephrotic Syndrome. Molecular Cell, 1, 575-582.
http://dx.doi.org/10.1016/S1097-2765(00)80057-X

[3]   Koziell, A., Grech, V., Hussain, S., Lee, G., Lenkkeri, U., Tryggvason, K., et al. (2002) Genotype/Phenotype Correlations of NPHS1 and NPHS2 Mutations in Nephrotic Syndrome Advocate a Functional Inter-Relationship in Glomerular Filtration. Human Molecular Genetics, 11, 379-388.
http://dx.doi.org/10.1093/hmg/11.4.379

[4]   Lenkkeri, U., Mannikko, M., McCready, P., Lamerdin, J., Gribouval, O., Niaudet, P.M., et al. (1999) Structure of the Gene for Congenital Nephrotic Syndrome of the Finnish Type (NPHS1) and Characterization of Mutations. American Journal of Human Genetics, 64, 51-61.
http://dx.doi.org/10.1086/302182

[5]   Patrakka, J., Kestila, M., Wartiovaara, J., Ruotsalainen, V., Tissari, P., Lenkkeri, U., et al. (2000) Congenital Nephrotic Syndrome (NPHS1): Features Resulting from Different Mutations in Finnish Patients. Kidney International, 58, 972-980.
http://dx.doi.org/10.1046/j.1523-1755.2000.00254.x

[6]   Patrakka, J., Martin, P., Salonen, R., Kestila, M., Ruotsalainen, V., Mannikko, M., et al. (2002) Proteinuria and Prenatal Diagnosis of Congenital Nephrosis in Fetal Carriers of Nephrin Gene Mutations. Lancet, 359, 1575-1577.
http://dx.doi.org/10.1016/S0140-6736(02)08504-5

[7]   Avni, E.F., Vandenhoute, K., Devriendt, A., Ismaili, K., Hackx, M., Janssen, F., et al. (2011) Update on Congenital Nephrotic Syndromes and the Contribution of US. Pediatric Radiology, 41, 76-81.
http://dx.doi.org/10.1007/s00247-010-1793-5

[8]   Kuusniemi, A.M., Merenmies, J., Lahdenkari, A.T., Holmberg, C., Salmela, K., Karikoski, R., et al. (2006) Glomerular Sclerosis in Kidneys with Congenital Nephrotic Syndrome (NPHS1). Kidney International, 70, 1423-1431.
http://dx.doi.org/10.1038/sj.ki.5001779

[9]   Beltcheva, O., Martin, P., Lenkkeri, U. and Tryggvason, K. (2001) Mutation Spectrum in the Nephrin Gene (NPHS1) in Congenital Nephrotic Syndrome. Human Mutation, 17, 368-373.
http://dx.doi.org/10.1002/humu.1111

[10]   Salame, H., Damry, N., Vandenhoudt, K., Hall, M. and Avni, F.E. (2003) The Contribution of Ultrasound for the Differential Diagnosis of Congenital and Infantile Nephrotic Syndrome. European Radiology, 13, 2674-2679.
http://dx.doi.org/10.1007/s00330-003-1920-x

 
 
Top