Congenital Nephrotic Syndrome Masquerading as Respiratory Illness

ABSTRACT

Congenital nephrotic syndrome is rare and is often found incidentally while investigating other disorders. The diagnosis is made by typical clinical features and laboratory tests in infants < 3 months of age. It may be inherited, sporadic, acquired, or associated with a syndrome. We present the case of a former premature infant with respiratory distress at 3 months of age who was subsequently diagnosed with Finnish-type congenital nephrotic syndrome resulting from an unusual mode of inheritance.

Congenital nephrotic syndrome - Finnish type - renal failure - proteinuria - prematurity - NPHS1

REFERENCES

• 1 Hamed R M, Shomaf M. Congenital nephrotic syndrome: a clinico-pathologic study of thirty children.  J Nephrol. 2001;  14 104-109
• 2 Mahan J D, Mauer S M, Sibley R K et al.. Congenital nephrotic syndrome: evolution of medical management and results of renal transplantation.  J Pediatr. 1984;  105 549-557
• 3 Ahvenainen E K, Hallman N, Hjelt L. Nephrotic syndrome in newborn and young infants.  Ann Paediatr Fenn. 1956;  2 227-241
• 4 Hallman N, Norio R, Rapola J. Congenital nephrotic syndrome.  Nephron. 1973;  11 101-110
• 5 Kestila M, Mannikko M, Holmberg C et al.. Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19.  Am J Hum Genet. 1994;  54 757-764
• 6 Patrakka J, Kestila M, Wartiovaara J et al.. Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.  Kidney Int. 2000;  58 972-980
• 7 Niaudet P. Genetic forms of nephrotic syndrome.  Pediatr Nephrol. 2004;  19 1313-1318
• 8 Lenkkeri U, Mannikko M, McCready P et al.. Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations.  Am J Hum Genet. 1999;  64 51-61
• 9 Kestila M, Lenkkeri U, Mannikko M et al.. Positionally cloned gene for a novel glomerular protein—nephrin—is mutated in congenital nephrotic syndrome.  Mol Cell. 1998;  1 575-582
• 10 Huttunen N P, Rapola J, Vilska J, Hallman N. Renal pathology of congenital nephrotic syndrome of Finnish type: a quantitative light microscopic study on 50 patients.  Int J Pediatr Nephrol. 1980;  1 10-16
• 11 Ryynanen M, Seppala M, Kuusela P et al.. Antenatal screening for congenital nephrosis in Finland by maternal serum alpha-fetoprotein.  Br J Obstet Gynaecol. 1983;  90 437-442
• 12 Savage J M, Jefferson J A, Maxwell A P et al.. Improved prognosis for congenital nephrotic syndrome of the Finnish type in Irish families.  Arch Dis Child. 1999;  80 466-469
• 13 Holmberg C, Jalanko H, Koskimies O et al.. Renal transplantation in small children with congenital nephrotic syndrome of the Finnish type.  Transplant Proc. 1991;  23(1 Pt 2) 1378-1379