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Article

Steroid-Resistant Focal Segmental Glomerulosclerosis with Alport-like Glomerular Basement Membrane Lesions Due to a MYO1E Mutation: A Pediatric Case Report.

International journal of molecular sciences - 20 Mar 2026

Angioi Andrea, Piras Doloretta, Lepori Nicola, Bianco Paola, Floris Matteo, Cabiddu Gianfranca, Barreca Antonella, Pani Antonello

Abstract excerpt

Steroid-resistant nephrotic syndrome (SRNS) in childhood frequently reflects monogenic podocytopathies in which immunosuppression is ineffective. Biallelic variants in MYO1E, encoding the class I myosin Myo1E, cause a distinctive form of focal segmental glomerulosclerosis (FSGS) often accompanied by "Alport-like" multilamination of the glomerular basement membrane (GBM). Early recognition has therapeutic and...

Topics

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Child
Child, Preschool
Drug Resistance
Glomerular Basement Membrane
Glomerulosclerosis, Focal Segmental

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nephritis, Hereditary

Nephrotic Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 41898697
DOI: 10.3390/ijms27062838
PMCID: PMC13026958

Genes

MYO1E
C3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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