Isolated steroid-resistant nephrotic syndrome in a Chinese child carrying a de novo mutation in WT1 gene:a case report and literature review

Isolated steroid-resistant nephrotic syndrome (ISRNS) is caused by mutations in the Wilms' tumor-1 (WT1) gene, which encodes glomerular podocytes and podocyte slit diaphragm.We report a novel 8-year-old female patient with ISRNS carrying a de novo missense mutation in WT1 gene and presenting a...

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Bibliographic Details
Published in:BMC pediatrics 2022-06, Vol.22 (1), p.349-349, Article 349
Main Authors: Li, Yiyang, Tian, Chuan, Wang, Yajun, Ma, Guoda, Chen, Riling
Format: Article
Language:English
Subjects:
Age
Amino acids
Anemia
Case Report
Case reports
Case studies
China
Chromosomes
Drug Resistance - genetics
Drug therapy
Families & family life
Female
Gene mutations
Genes
Genetic aspects
Genomics
Glomerulonephritis
Health aspects
Hepatitis
Humans
Hypertension
Immunosuppressive agents
Intelligence tests
Isolated Steroid-resistant Nephrotic syndrome
Kidney diseases
Mutation
Nephrotic syndrome
Nephrotic Syndrome - genetics
Nephrotic Syndrome - metabolism
Nephrotic Syndrome - pathology
Pathology
Patients
Pediatric research
Pediatrics
Proteins
Remission (Medicine)
Steroids
Transcription factors
Urine
WT1 gene
WT1 Proteins - genetics
WT1 Proteins - metabolism
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Summary:Isolated steroid-resistant nephrotic syndrome (ISRNS) is caused by mutations in the Wilms' tumor-1 (WT1) gene, which encodes glomerular podocytes and podocyte slit diaphragm.We report a novel 8-year-old female patient with ISRNS carrying a de novo missense mutation in WT1 gene and presenting a new type of pathology, have never been reported.We also systematically review previous reports of ISRNS in Chinese children. A 8-year-old Chinese patient who had steroid-resistant nephrotic syndrome,responded poorly to immunosuppressant, and had no extrarenal manifestations. The patient had a female phenotype and karyotype of 46, XX. A new type of renal pathology, proliferative sclerosing glomerulonephritis (PSG),and a de novo missense mutation in WT1 gene, c.748C > T (p.R250W),which have not yet been reported, were identified. She was diagnosed with ISRNS.The patient progressed to end-stage renal disease at the age of 10 years,underwent dialysis and kidney transplant. Renal function and urine protein were normal during 4-year follow-up. WT1 gene testing should be performed to guide treatment for patients with steroid-resistant nephrotic syndrome, especially for isolated cases and female patients.
ISSN:1471-2431
1471-2431
DOI:10.1186/s12887-022-03358-3