Year: 2026
Type: preprint
Study design: Case Report
Abstract: We report the case of a 15-year-old boy diagnosed with congenital nephrotic syndrome (CNS) at one month of age. The genetic testing with exome sequencing identified 2 mutations in the NPHS2 gene. He started treatment with an ACE inhibitor at 9 months. Kidney biopsy conducted at the age of 5 revealed no glomerulosclerosis. He has maintained clinical stability with controlled proteinuria (significant but non-nephrotic range), and no impairment of kidney function. This case shows an atypical evolution of CNS. Considering the identified mutation it would be expected a poor prognosis with early kidney failure and need of kidney replacement therapy. However, this boy, currently 15 years old, has shown a favorable evolution under treatment with an ACE inhibitor.
Source: Research Square
Institution: Unidade Local de Saúde de Coimbra
Language: English
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7225584752