Abstract
Congenital nephrotic syndrome of the Finnish type, due to homozygous mutation of NPHS1, is the most common form of congenital nephrotic syndrome. Angiotensin converting enzyme (ACE) and prostaglandin synthesis inhibition along with supportive albumin infusion therapy, with or without unilateral nephrectomy, has allowed management of the disease without dialysis until transplantation in some cases of congenital nephrotic syndrome. Reported here is a case of heterozygous NPHS1 mutation, with normal NPHS2 gene structure, presenting during prenatal screening and developing nephrotic syndrome within days of birth. The patient has responded well to very low doses of ACE inhibitors and indomethacin alone. This case illustrates the importance of an initial trial of conservative medical therapy in milder presentations of the congenital nephrotic syndrome, especially given the current limitations of diagnostic testing and our inadequate knowledge of the complete spectrum of disorders of podocyte proteins.
References
Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P (2002) Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 11:379–388
Holmberg C, Antikainen M, Ronnholm K, Ala Houhala M, Jalanko H (1995) Management of congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol 9:87–93
Pomeranz A, Wolach B, Bernheim J, Korzets Z, Bernheim J (1995) Successful treatment of Finnish congenital nephrotic syndrome with captopril and indomethacin. J Pediatr 126:140–142
Guez S, Giani M, Melzi ML, Antignac C, Assael BM (1998) Adequate clinical control of congenital nephrotic syndrome by enalapril. Pediatr Nephrol 12:130–132
Licht C, Eifinger F, Gharib M, Offner G, Michalk DV, Querfeld U (2000) A stepwise approach to the treatment of early onset nephrotic syndrome. Pediatr Nephrol 14:1077–1082
Patrakka J, Martin P, Salonen R, Kestila M, Ruotsalainen V, Mannikko M, Ryynanen M, Rapola J, Holmberg C, Tryggvason K, Jalanko H (2002) Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations. Lancet 359:1575–1577
Kestila M, Jarvela I (2003) Prenatal diagnosis of congenital nephrotic syndrome (CNF, NPHS1). Prenat Diagn 23:323–324
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Lemley, K.V. Neonatal nephrotic presentation of a child with heterozygous NPHS1 mutation. Pediatr Nephrol 21, 864–866 (2006). https://doi.org/10.1007/s00467-006-0095-5
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00467-006-0095-5