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Is Cytomegalovirus a Partaker or a By-stander in Congenital Nephrotic Syndrome? : A novel mutation update.
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Received 11 December 2021
Accepted 23 December 2021
DOI:
https://doi.org/10.7199/ped.oncall.2022.46
CITE THIS ARTICLE
Lohia S, Khamkar A M, Jose G E, Pote P D. Is Cytomegalovirus a Partaker or a By-stander in Congenital Nephrotic Syndrome? : A novel mutation update.. Pediatr Oncall J. 2021 Dec 23. doi: 10.7199/ped.oncall.2022.46
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CASE REPORTS
Is Cytomegalovirus a Partaker or a By-stander in Congenital Nephrotic Syndrome? : A novel mutation update.
Shraddha Lohia
1
, Anilkumar M Khamkar
2
, Georgeena Elsa Jose
3
, P. D. Pote
3
.
1
Pediatric Nephrologist, Noble Hospital and Research Center, Hadapsar, Pune, India,
2
Academic Head NICU and Senior Consultant Neonatologist, Noble Hospital and Research Center, Hadapsar, Pune, India,
3
Department Of Pediatrics, Noble Hospital and Research Center, Hadapsar, Pune, India.
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Abstract
Congenital nephrotic syndrome (CNS) is a rare and serious disease of infants, which is due to a genetic and or an infectious cause. First case is an 11-week old baby, a completely worked-up case which includes the tetrad of clinical manifestations (neurological, gastro-intestinal and renal), virological findings (positive CMV antibody and DNA PCR), histo-pathological findings and novel genetic mutation (c.712+1G>C) in NPHS 1 gene. On the contrary, the second case is an 8-week old baby with isolated renal involvement of CMV infection. CMV IgM was positive but CMV DNA polymerase chain reaction (PCR) was negative. Parents were unwilling to do a genetic work up. In the first case partial remission of renal symptoms were achieved with Ganciclovir in four weeks, but she succumbed due to sepsis after being followed up for 730 days. The pediatrician of the second child skipped Ganciclovir and gave four weeks steroid trial. Due to absence of remission, renal biopsy was done and Tacrolimus was started. No recurrence of proteinuria was observed during the 14-month follow-up period. The need of anti-CMV therapy in isolated renal involvement of congenital CMV infection is questionable as the insult to the kidney has already occurred. It also highlights the dilemma perceived by a pediatrician, in starting anti-CMV therapy when CMV IgM antibodies are positive but CMV DNA PCR result is negative. This paper emphasizes the importance of performing a genetic test in every case of CNS to rule out any hereditary causes.
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