A CASE PRESENTATION OF A CHILD WITH NEPHROTIC SYNDROME AND COMMON VARIABLE IMMUNODEFICIENCY

Abstract

A 9-year-old boy presented with severe generalized oedema, weight gain. The results of laboratory tests revealed normal creatinine, hypoproteinemia, hypoalbuminaemia, and nephrotic range proteinuria (10 g/day). A diagnosis of idiopathic NS was made, and steroid treatment (prednisolone 60 mg/day) was started. After 4 weeks of therapy proteinuria decreased but it did not become negative. Resistant oedema also was present for a long time. H`e was treated with 3 high-pulse doses of methylprednisolone followed by steroid therapy. During conformation period he didn’t show steroid sensitivity and steroid-resistant NS was confirmed. We couldn’t perform nephrobiopsy or genetic testing, so therapy with cyclophosphamide was started. He achieved partial remission and even 1 year after finishing immunosuppressive therapy he presents with mild isolated proteinuria, and using of enalapril continues. In his past medical history there were recurrent infections, pneumonias, fungal infection of skin, episode of herpes zoster and signs of physical retardation. During treatment of NS, we also met frequent sinopulmonary infections and the consultation with immunologist was performed. Immunological tests showed reduction in serum concentrations of immunoglobulin (Ig)G, in combination with low levels of IgA and IgM, poor response to immunizations (Tetanus anatoxin) and heterozygouse mutation TNFRSF13B gene. With the history of recurrent infections and low Ig levels, he was diagnosed as having CVID. Replacement therapy with IVIG (600 mg/kg every 3 weeks) was initiated.