An unusual case of nephrotic syndrome.
Pediatr Nephrol
; 39(11): 3205-3208, 2024 Nov.
Article
en En
| MEDLINE
| ID: mdl-38780768
ABSTRACT
BACKGROUND:
Alport syndrome is a genetically heterogenous disorder resulting from variants in genes coding for alpha-3/4/5 chains of Collagen IV, which results in defective basement membranes in the kidney, cochlea and eye. The syndrome has different inheritance patterns and historically, was thought of as a disease affecting solely males. CASE A 15-year-old female presented with pedal oedema, hypertension and proteinuria. She underwent a kidney biopsy which showed findings in keeping with focal segmental glomerulosclerosis. Her condition was refractory to steroids. Steroid-resistant nephrotic syndrome genetics were sent, revealing a rare pathogenic variant in the COL4A5 gene.CONCLUSION:
Heterozygous females with X-linked Alport syndrome can develop chronic kidney disease and hearing loss. Clinicians should be mindful when reviewing kidney histology to include Alport syndrome as a differential for female patients. COL4A3-5 genes should be included in all steroid-resistant nephrotic syndrome genetic panels.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Colágeno Tipo IV
/
Nefritis Hereditaria
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Síndrome Nefrótico
Límite:
Adolescent
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Female
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Humans
Idioma:
En
Año:
2024
Tipo del documento:
Article