Home About us Current issue Ahead of Print Back issues Submission Instructions Advertise Contact Login   

Search Article 
Advanced search 
Saudi Journal of Kidney Diseases and Transplantation
Users online: 827 Home Bookmark this page Print this page Email this page Small font sizeDefault font size Increase font size 

Table of Contents   
Year : 2016  |  Volume : 27  |  Issue : 1  |  Page : 150-152
Recurrence of nephrotic syndrome following kidney transplantation in a child with congenital nephrotic syndrome

Department of Pediatric Nephrology, Shiraz Nephrology-Urology Research Center, Shiraz University of Medical Sciences, Shiraz, India

Click here for correspondence address and email

Date of Web Publication15-Jan-2016


Recurrence of original disease is a common threat in the field of transplantation. Recurrence of nephrotic syndrome is not common in children with congenital nephrotic syndrome (CNS). We report a case of a female child with CNS who presented with nephrotic state at first month of age and became dialysis dependent at 17 months of age. After seven months of continuous ambulatory peritoneal dialysis, she received a kidney from a deceased donor. Eight months after transplantation, she presented with a full-blown feature of nephrotic syndrome. She responded well to rituximab.

How to cite this article:
Derakhshan A, Derakhshan D, Fallahzadeh MH, Basiratnia M. Recurrence of nephrotic syndrome following kidney transplantation in a child with congenital nephrotic syndrome. Saudi J Kidney Dis Transpl 2016;27:150-2

How to cite this URL:
Derakhshan A, Derakhshan D, Fallahzadeh MH, Basiratnia M. Recurrence of nephrotic syndrome following kidney transplantation in a child with congenital nephrotic syndrome. Saudi J Kidney Dis Transpl [serial online] 2016 [cited 2022 Nov 26];27:150-2. Available from: https://www.sjkdt.org/text.asp?2016/27/1/150/174192

   Introduction Top

Congenital nephrotic syndrome (CNS) is defined as nephrotic syndrome presenting in the first three months of age. [1] Congenital nephrotic syndrome of the Finnish type (CNSF) is referred to a severe form of the disease that was originally reported in Finnish newborns in 1956, [2] and, in most of them, mutations in the NPHS1 gene is responsible for the disease. [3] Also, there are several reports in the nonFinnish group with mutations in the NPHS1 gene. [4],[5] Mutations in other genes can also present with CNS. [6]

A majority of the babies with CNS are born prematurely with a large placenta and edema is mostly evident soon after birth; 82% of them are diagnosed in the first week and the remaining within two months. [3]

Regarding the improvements in the management and survival of these patients, problems associated with the transplantation has gained special concern. One of the major problems is recurrence of proteinuria in the grafts.

   Case Report Top

We report here a three-year-old girl who presented with nephrotic syndrome at the first month of age. Edema had been noticed in the first week of life, which became generalized at the end of the second week, and she was admitted when she was 18 days old. Her parents were cousins. There was a history of large size placenta, but the exact size was not measured. Her birth weight was 2600 g. On physical examination, she had generalized edema and ascites. Her weight was 3.5 kg, blood pressure 70/50 mm Hg, head circumference 35 cm and length 47 cm. Her laboratory data were as follow: BUN 13 mg/dL, creatinine 0.6 mg/dL, serum albumin 1.2 g/dL, cholesterol 450 mg/ dL, triglyceride 310 mg/dL, thyroxine T4 2 μg/dL and TSH 20 mIU/L. A genetic study for mutations in the NPHS1 and other genes was not possible in our center. Also, considering the straightforward clinical features, a kidney biopsy was not performed, but the TORCH study was negative. Supportive measures including albumin infusion, levothroxine, vitamins, magnesium, calcium, angiotensin-converting enzyme inhibitor (ACEI) and angiotensin receptor blockers (ARBs) were started for her. She was discharged from the hospital but she was on daily albumin infusion in an outpatient unit for about two months that was changed to every other day and then twice weekly. At one year of age, she developed a rise in her serum creatinine levels to 1.3 mg/dL and at 17 months of age, she became dialysis dependent. With progression of renal failure, her albumin requirement was decreased. Continuous ambulatory dialysis (CAPD) was started for her and she was simultaneously put on our deceased donor waiting list.

Seven months later, she received a kidney from a deceased donor. Her transplantation course was uneventful except for an episode of CMV infection, which was treated with intravenous ganciclovir followed by oral valganciclovir (valcyte). Meanwhile, her serum creatinine (0.6 mg/dL) and other laboratory values were normal. Her immunosuppressive regimen was tacrolimus (Prograf), mycophenolate mofetil (Cellcept) and low-dose prednisolone. Seven months after transplantation, her laboratory values were normal as follows: serum (albumin 4.1 g/dL, BUN 9 mg/dL, creatinine 0.6 mg/dL, cholesterol 165 mg/dL, TG 96 mg/dL), Hb 13.1 g/dL and normal urinalysis.

One month later, i.e. eight months after transplantation, she developed generalized edema associated with ascites and full-blown features of nephrotic syndrome with the following laboratory data: serum albumin 1.4 mg/dL, creatinine 0.6 mg/dL, BUN 24 mg/dL, cholesterol 641 mg/dL, TG 423 mg/dL, Hb 13.9 gm and 24-h urine protein 2.4 g. Viral markers were negative. The allograft biopsy was normal in the light microscopic study, but effacement of podocyte foot processes was evident on electron microscopy.

Conservative therapy including albumin infusion was performed for her and also three weekly infusions of rituximab (each time, 375 mg/m 2 ) were given and oral cyclophosphamide was given in place of mycophenolate mofetil (Cellcept). She had complete remission one month after initiation of rituximab with the following laboratory data: albumin 4.1 g/dL, BUN 18 mg/dL, creatinine 0.6 and urine protein/creatinine ratio 0.11. After three months, mycophenolate was restarted and oral cyclophosphamide was stopped. After 24 months of follow-up, she is still in remission.

   Discussion Top

Primary CNS is caused by gene mutations in the com-ponents of the glomerular filtration barrier. CNSF is the classic type of this group and is caused by mutations in the nephrin gene (NPHS1), which is presented in the new-born period, with edema, massive proteinuria and severe hypoproteinemia. [1],[3],[4] Other gene mutations were also involved in CNS. [6],[7] It was primarily reported from Finland and then there had been reports from all over the world in different ethnic groups. [1],[3],[4],[5]

Development of peritoneal dialysis in most centers has improved the management of these patients, and bilateral nephrectomy with initiation of early dialysis prevents the complications associated with the nephrotic stage of the disease. [1],[8],[9] In some centers, they practice unilateral nephrectomy to decrease the frequency of albumin infusion and to postpone the timing of dialysis and transplantation. [10],[11]

There are some reports on the recurrence of nephrotic syndrome in children with CNS in the transplanted kidney. [12],[13],[14] In one of the reports, recurrence occurred in 25% of the cases. In the majority of the cases, recurrences occurred soon after transplantation. Auto-anti-bodies was detected against nephrin (NPHS1) in the majority of the cases because of the lack of nephrin in the native kidneys. In another series, recurrence was not seen in a two-year follow-up. [15] Recurrences are treated with plasma exchange, cyclophosphamide and, recently, with rituximab. [16],[17]

Although in our case kidney biopsy and genetic study were not performed at the initial presentation, regarding the timing of presentation with generalized edema and large size of placenta, there is no doubt about the diagnosis of CNS. The only confusion is about the rapid progression to end-stage kidney disease.

The importance of this case in our region is that, nowadays our infants with CNS are reaching transplantation. We should be aware of this issue among these children and also the value of treatment with rituximab.

The limitations that we had were lack of initial genetic study and also our inability for Anti-NPHS1-antibody measurement.

   Acknowledgments Top

The authors would like to thank Dr. Simin Torabinezhad and Dr. Mohammad Owji for light and electron microscopy study of the transplanted kidney biopsy.

   References Top

Jalanko H, Holemberg C. Congenital nephrotic syndrome. In: Avner ED, Harmon WE, Niaudet P, Yoshikawa N, eds. Pediatric Nephrology. 6th ed. Tiergartenstraße: Springer-Verlag Berlin Heidelberg; 2009. p. 601-19.  Back to cited text no. 1
Ahvenainen EK, Hallman N, Hjelt L. Nephrotic syndrome in newborn and young infants. Ann Paediatr Fenn 1956;2:227-41.  Back to cited text no. 2
Patrakka J, Kestilä M, Wartiovaara J, et al. Congenital nephrotic syndrome (NPHS1): Features resulting from different mutations in Finnish patients. Kidney Int 2000;58:972-80.  Back to cited text no. 3
Aya K, Tanaka H, Seino Y. Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. Kidney Int 2000;57:401-4.  Back to cited text no. 4
Gigante M, Monno F, Roberto R, et al. Congenital nephrotic syndrome of the Finnish type in Italy: A molecular approach. J Nephrol 2002;15:696-702.  Back to cited text no. 5
Machuca E, Benoit G, Nevo F, et al. Genotypephenotype correlations in non-Finnish congenital nephrotic syndrome. J Am Soc Nephrol 2010;21:1209-17.  Back to cited text no. 6
Hinkes BG, Mucha B, Vlangos CN, 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:e907-19.  Back to cited text no. 7
Kim MS, Primack W, Harmon WE. Congenital nephrotic syndrome: Preemptive bilateral nephrectomy and dialysis before renal transplantation. J Am Soc Nephrol 1992;3:260-3.  Back to cited text no. 8
Ghane Sharbaf F, Bitzan M, Szymanski KM, et al. Native nephrectomy prior to pediatric kidney transplantation: Biological and clinical aspects. Pediatr Nephrol 2012;27:1179-88.  Back to cited text no. 9
Kovacevic L, Reid CJ, Rigden SP. Management of congenital nephrotic syndrome. Pediatr Nephrol 2003;18:426-30.  Back to cited text no. 10
Coulthard MG. Management of Finnish congenital nephrotic syndrome by unilateral nephrectomy. Pediatr Nephrol 1989;3:451-3.  Back to cited text no. 11
Patrakka J, Ruotsalainen V, Reponen P, et al. Recurrence of nephrotic syndrome in kidney grafts of patients with congenital nephrotic syndrome of the Finnish type: Role of nephrin. Transplantation 2002;73:394-403.  Back to cited text no. 12
Srivastava T, Garola RE, Kestila M, et al. Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol 2006;21:711-8.  Back to cited text no. 13
Wang SX, Ahola H, Palmen T, Solin ML, Luimula P, Holthöfer H. Recurrence of nephrotic syndrome after transplantation in CNF is due to autoantibodies to nephrin. Exp Nephrol 2001;9:327-31.  Back to cited text no. 14
Mahan JD, Mauer SM, Sibley RK, Vernier RL. Congenital nephrotic syndrome: Evolution of medical management and results of renal transplantation. J Pediatr 1984;105:549-57.  Back to cited text no. 15
Kuusniemi AM, Qvist E, Sun Y, et al. Plasma exchange and retransplantation in recurrent nephrosis of patients with congenital nephrotic syndrome of the Finnish type (NPHS1). Transplantation 2007;83:1316-23.  Back to cited text no. 16
Chaudhuri A, Kambham N, Sutherland S, et al. Rituximab treatment for recurrence of nephrotic syndrome in a pediatric patient after renal transplantation for congenital nephrotic syndrome of Finnish type. Pediatr Transplant 2012;16:E183-7.  Back to cited text no. 17

Correspondence Address:
Ali Derakhshan
Department of Pediatric Nephrology, Shiraz Nephrology-Urology Research Center, Shiraz University of Medical Sciences, Shiraz
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1319-2442.174192

Rights and Permissions


    Similar in PUBMED
    Search Pubmed for
    Search in Google Scholar for
    Email Alert *
    Add to My List *
* Registration required (free)  

   Case Report

 Article Access Statistics
    PDF Downloaded492    
    Comments [Add]    

Recommend this journal