2024 Volume 37 Pages 9-14
Congenital nephrotic syndrome (CNS) due to ARHGDIA gene mutation is rare and few cases have been reported. A boy who developed CNS at 1 month of age presented with rapidly progressing renal dysfunction. He was transferred to our hospital and treated with maintenance peritoneal dialysis following continuous hemodialysis. In addition to nephrotic syndrome and renal dysfunction, he also had microcephaly, micrognathia, and strabismus. During his hospitalization, He also developed epilepsy. Genetic testing revealed a homozygous novel nonsense variant in the ARHGDIA gene (c.153C>G: (p.Tyr51*)) . His mother had the same heterozygous mutation, and an uniparental disomy from his mother was suspected as the cause of his homozygous mutation. In previous reports, nephrotic syndrome caused by this gene develops in the CNS and steroid-resistant nephrotic syndrome in early childhood, both of which lead to end-stage renal failure. The complications included intellectual disability, seizures, and visual and hearing impairments. There were no cases showing microcephaly or micrognathia like this case. Case series are needed to clarify the phenotype of ARHGDIA gene mutation.
