Congenital nephrotic syndrome (CNS) is a rare and severe disorder that manifests in utero or during the first 3 months of life and is amenable to prenatal diagnosis. We report a case of CNS of the Finnish-type, the most common form of the disease, in a Lebanese newborn admitted to the neonatal intensive care unit for generalized edema. The diagnosis was confirmed by the presence of two compound heterozygous mutations in the NPHS1 gene. Despite optimal conservative treatment, the course of the disease was characterized by numerous complications resulting from massive protein loss. This case report illustrates the complexity of managing severe forms of CNS, especially in the neonatal period. We discuss its diagnostic, evolutionary, and therapeutic aspects, as well as the importance of genetic testing.
What is already known about the topic?
1. Congenital nephrotic syndrome is a group of rare and severe pathologies that manifest in utero or during the first 3 months of life.
2. It must be distinguished from infantile nephrotic syndrome, which manifests during the first year of life.
3. Genetic forms are the most common, but secondary forms should be systematically excluded and, if applicable, treated.
4. Steroid resistance is the rule.
5. Management consists of daily albumin infusion, early bilateral nephrectomy, and renal transplantation.
What does this article bring up for us?
1. This article reports a severe case of congenital nephrotic syndrome of the Finnish type secondary to two compound heterozygous NPHS1 mutations.
2. Conservative treatment combined with unilateral nephrectomy was performed.
3. It provides a recent literature review on diagnostic and therapeutic recommendations in the neonatal period.
Keywords
Congenital nephrotic syndrome, NPHS1 mutation, conservative treatment, unilateral nephrectomy