Immune-complex glomerulonephritis with a membranoproliferative pattern in Frasier syndrome: a case report and review of the literature.
BMC Nephrol
; 21(1): 362, 2020 08 24.
Article
em En
| MEDLINE
| ID: mdl-32838737
ABSTRACT
BACKGROUND:
Mutations in the Wilms tumor 1 gene cause a spectrum of podocytopathy ranging from diffuse mesangial sclerosis to focal segmental glomerulosclerosis. In a considerable fraction of patients with Wilms tumor 1 mutations, the distinctive histology of immune-complex-type glomerulonephritis has been reported. However, the clinical relevance and etiologic mechanisms remain unknown. CASE PRESENTATION A 5-year-old child presented with steroid-resistant nephrotic range proteinuria. Initial renal biopsy revealed predominant diffuse mesangial proliferation with a double-contour and coexisting milder changes of focal segmental glomerulosclerosis. Immunofluorescence and electron microscopy revealed a full-house-pattern deposition of immune complexes in the subendothelial and paramesangial areas. Serial biopsies at 6 and 8 years of age revealed that more remarkable changes of focal segmental glomerulosclerosis had developed on top of the initial proliferative glomerulonephritis. Identification of a de novo Wilms tumor 1 splice donor-site mutation in intron 9 (NM_024426.6c.1447 + 4C > T) and 46,XY-gonadal dysgenesis led to the diagnosis of Frasier syndrome.CONCLUSIONS:
Our findings, together with those of others, point to the importance of heterogeneity in clinicopathological phenotypes caused by Wilms tumor 1 mutations and suggest that immune-complex-mediated membranoproliferative glomerulopathy should be considered as a histological variant.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Glomerulosclerose Segmentar e Focal
/
Glomerulonefrite Membranoproliferativa
/
Síndrome de Frasier
/
Rim
/
Complexo Antígeno-Anticorpo
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
BMC Nephrol
Assunto da revista:
NEFROLOGIA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Japão