Case report: Focal segmental glomerulosclerosis in a pediatric atypical progeroid syndrome

• DOI: 10.3389/fped.2022.1032653
• Publication Date: 2022-10-31T07:11:08Z
• Authors: Seoyun Jang; Yo Han Ahn; Jung Min Ko; Jae Sung Ko; Sojung Lim; Hee Gyung Kang
• Keywords: LMNA

Atypical progeroid syndrome (APS) is a rare type of mainly caused by heterozygous missense mutations in the LMNA (MIM 150330) gene. APS has heterogeneous clinical manifestations, and its kidney particularly children, are rarely documented. Here, we report first pediatric case with focal segmental glomerulosclerosis (FSGS). A 10-year-old boy features was referred to nephrology clinic because hyperuricemia. He had dark skin, protruding eyes, beaked nose very thin, suggesting lipodystrophy. been treated for recurrent urinary tract infection during infancy, liver biopsy persisting hepatitis showed steatohepatitis. also hypertrophic cardiomyopathy (HCMP) mitral tricuspid valve regurgitation. Genetic studies were performed considering his multisystem symptoms, he diagnosed as having according exome sequencing findings (c.898G > C, p.Asp300His LMNA). During visit clinic, minimal proteinuria (urine protein/creatinine ratio 0.23 mg/mg), which worsened follow-up. In three years, urine N-acetyl-b-D-glucosaminidase/creatinine increased 1.52 18.7, respectively. The result consistent FSGS, peri-hilar type, showing sclerosis 1 (5%) glomerulus out 21 glomeruli. An angiotensin receptor blocker added manage proteinuria. This FSGS an patient confirmed defect, who manifested features, lipodystrophy, HCMP heart dysfunction, Our suggests that screening proteinuric nephropathy essential managing patients since childhood.