Congenital Nephrotic Syndrome: A Cases Report

Authors

1 Neonatal and Maternal Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

2 Neonatal Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

Abstract

Congenital nephrotic syndrome (CNS) can be caused by neonatal infections and renal diseases that usually occur in early infancy. The most common CNS is the Finnish type, which is an autosomal recessively inherited disease characterized by intrauterine onset of massive proteinuria. In this study, we presented a preterm neonate confirmed as the first case of CNS in Iran by genetic study, who was admitted to the Neonatal Intensive Care Unit of Imam Reza Hospital, Mashhad, Iran. The patient’s mother had gestational diabetes mellitus and a history of intrahepatic cholestasis of pregnancy. The newborn was hospitalized at birth because of hypoglycemia. Upon admission, repeat seizure, intraventricular hemorrhage, intracerebral hemorrhage, and edema (specific gravity of more than 58 and sever protein urea) were detected. Furthermore, hypoalbuminemia was observed. The result of the blood culture and cerebral spinal fluid culture were negative. In addition, TORCH and venereal disease research laboratory tests were negative. Finally, genetic study showed a mutation in C3250 DUPG.

Keywords

References

1. Tryggvason K, Patrakka J, Wartiovaara J. Hereditary proteinuria syndromes and mechanisms of proteinuria. N Engl J Med. 2006; 354(13):1387-401.
2. Ovunc B, Ashraf S, Vega-Warner V, Bockenhauer D, Elshakhs NA, Joseph M, et al. Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. Nephron Clin Pract. 2012; 120(3):c139-46.
 3. Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K, et al. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics. 2007; 119(4): e907-19.
4. Jalanko H, Holmberg C. Congenital nephrotic syndrome. Pediatric nephrology. New York: Springer; 2009. P. 601-19.
5. VanDeVoorde R, Witte D, Kogan J, Goebel J. Pierson syndrome: a novel cause of congenital nephrotic syndrome. Pediatrics. 2006; 118(2): e501-5.
6. Gipson DS, Massengill SF, Yao L, Nagaraj S, Smoyer WE, Mahan JD, et al. Management of childhood onset nephrotic syndrome. Pediatrics. 2009; 124(2):747-57.
 7. Schoeb DS, Chernin G, Heeringa SF, Matejas V, Held S, Vega-Warner V, et al. Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol Dial Transplant. 2010; 25(9):2970-6.
8. Lee JH, Han KH, Lee H, Kang HG, Moon KC, Shin JI, et al. Genetic basis of congenital and infantile nephrotic syndromes. Am J Kidney Dis. 2011; 58(6):1042-3.
9. Kestilä M, Lenkkeri U, Männikkö M, Lamerdin J, McCready P, Putaala H, et al. Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. Mol Cell. 1998; 1(4):575-82.
 10. Büscher AK, Kranz B, Büscher R, Hildebrandt F, Dworniczak B, Pennekamp P, et al. Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2010; 5(11):2075-84.
 11. Dagan A, Cleper R, Krause I, Blumenthal D, Davidovits M. Hypothyroidism in children with steroid-resistant nephrotic syndrome. Nephrol Dial Transplant. 2011; 27(6):2171-5.
 12. Kuusniemi AM, Qvist E, Sun Y, Patrakka J, Rönnholm K, Karikoski R, et al. Plasma exchange and retransplantation in recurrent nephrosis of patients with congenital nephrotic syndrome of the Finnish type (NPHS1). Transplantation. 2007; 83(10):1316-23.
13. Hilgers KF, Mann JF. ACE inhibitors versus AT1 receptor antagonists in patients with chronic renal disease. J Am Soc Nephrol. 2002; 13(4):1100-8.
14. White CT, Macpherson CF, Hurley RM, Matsell DG. Antiproteinuric effects of enalapril and losartan: a pilot study. Pediatr Nephrol. 2003; 18(10):1038-43.
15. Kovacevic L, Reid CJ, Rigden SP. Management of congenital nephrotic syndrome. Pediatr Nephrol. 2003; 18(5):426-30.
Iranian Journal of Neonatology
Volume 9, Issue 1
March 2018
Pages 71-74

Files

Share

How to cite

Statistics