Congenital nephrotic syndrome: Difficulties of diagnostics and treatment

Abstract

Summary: The brief literature summary covering the congenital nephrotic syndrome (CNS) and two clinical observations of this disease are represented. Symptom complex of nephrotic syndrome manifested by a massive proteinuria, edemas, hypoproteinemia during the first three months after childbirth was the essential in establishing a diagnosis in both patients. In most cases CNS is caused by genetically-mediated defects of the glomerular filtration barrier components. In patients, clinical manifestations (phenotype) were absolutely similar, and etiology (genotype, other reasons) was different. The expert analysis of medical documentation detected diagnostic and therapeutic errors in patient management which in the second observations have led to the death. Based on the described cases, it is shown the necessity of complex approach to examining children with CNS to early diagnose supplemental syndrome variations of pathology, to determine vital and nephrologic prognosis for the disease and to develop therapy management (personalized therapy).