Multiple gene mutations in cytomegalovirus positive infantile nephrotic syndrome: a case report

Authors

  • Abhishek Abhinay Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India
  • Swetketu Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India
  • Devesh Kumar Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India
  • Rajniti Prasad Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India
  • Ankur Singh Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India
  • Nitish Kumar Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India https://orcid.org/0000-0001-5490-3924

DOI:

https://doi.org/10.18203/2349-3291.ijcp20241380

Keywords:

Congenital nephrotic syndrome, Cytomegalovirus infection, Finnish type, Ganciclovir, NPHS 1

Abstract

The term “infantile” is used for those cases of nephrotic syndrome (NS) that manifest from 3 months to 1 year of age. These are rare diseases attributable to both genetic and certain congenital infections. The prognosis depends on the type of mutation and whether remission occurs with specific therapy in the latter. However, multiple other gene mutations may be found associated with these that hold individual significance. Here, we report a case of an 11-month-old child with infantile NS having novel gene mutations NPHS 2 gene and the gut-associated lymphoid tissues (GALT) on Exon 4 and Exon 5 gene respectively. The presence of hepatomegaly and poor nutritional status instigated us to investigate congenital infections. Positive IgM and IgG values of cytomegalovirus (CMV) in the TORCH profile and a positive urinary polymerase chain reaction confirmed CMV infection, though we were unable to establish whether it was congenital or acquired postnatally. The child was managed with injectable gancyclovir along with supportive therapy which showed partial remission after a period of 10 days and discharge on angiotensin converting enzyme (ACE) inhibitor and diuretic. The coexistence of the multiple gene mutations might have caused the severity of the phenotype. Also, identification and treatment at earlier notice might have an impact on the outcome of the disease. The authors emphasize the importance of performing a genetic test in cases of infantile NS and also working up for acquired causes on an individualized basis.

References

Reynolds BC, Oswald RJ. Diagnostic and management challenges in congenital nephrotic syndrome. Pediatric Health Med Therap. 2019;17:157-67.

Sinha R, Vasudevan A, Agarwal I, Sethi SK, Saha A, Pradhan S, et al. Congenital Nephrotic syndrome in India in the current era: a multicenter case series. Nephron. 2020;144(1):21-9.

Rios-Barnes M, Fortuny C, Alarcón A, Noguera-Julian A. Renal Involvement in Congenital Cytomegalovirus Infection: A Systematic Review. Microorganisms. 2021;9(6):1304.

Qiu L, Zhou J. Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report. BMC Pediatrics. 2016;16(1):1-7.

Lotfi S, Mohammdzadeh A, Farhat A, Saeidi R, Mirmohammadi M. Congenital Nephrotic Syndrome: A Cases Report. Iranian J Neonatol IJN. 2018;9(1):71-4.

Li L, Yi Z, Xi H, Ma L, Shao H, Wang W, et al. Congenital nephrotic syndrome associated with 22q11. 2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286+ 5G> A mutation. Italian J Pediatrics. 2019;45:1-6.

AlHassan A, AlKadhem SM, Alkhalifah F, Almajed JM, Alwabari ME, Alkhalifah FH. Congenital Nephrotic Syndrome With a Novel Presentation in Saudi Arabia. Cureus. 2020;12(9):1-5.

Li Z, Zhuang L, Han M, Li F. A case report of congenital nephrotic syndrome caused by new mutations of NPHS1. J Inte Med Res. 2021;49(8):03000605211038133.

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Published

2024-05-27

Issue

Section

Case Reports