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

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.