Wilms′ tumour 1 gene mutations in south Indian children with steroid-resistant nephrotic syndrome
| Autor: | Prabha Senguttuvan, Aravind Selvin Kumar, R Padmaraj, K Balakrishnan, S.M.K. Karthickeyan, R Srilakshmi |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Male Pathology medicine.medical_specialty Nephrotic Syndrome Drug Resistance lcsh:Medicine 030105 genetics & heredity Gene mutation medicine.disease_cause urologic and male genital diseases Gastroenterology General Biochemistry Genetics and Molecular Biology law.invention 03 medical and health sciences Exon Focal segmental glomerulosclerosis law Internal medicine steroid-resistant nephrotic syndrome medicine Indian children Humans Child Gonads WT1 Proteins Polymerase chain reaction focal segmental glomerulosclerosis Mutation Denys-Drash syndrome business.industry Glomerulosclerosis Focal Segmental urogenital system lcsh:R Karyotype General Medicine medicine.disease Steroid-resistant nephrotic syndrome Frasier syndrome Child Preschool Kidney Failure Chronic Original Article Female Steroids Denys-Drash syndrome - focal segmental glomerulosclerosis - Frasier syndrome - Indian children - steroid-resistant nephrotic syndrome - Wilms′ tumour 1 business Nephrotic syndrome Wilms’ tumour 1 |
| Zdroj: | Indian Journal of Medical Research, Vol 144, Iss 2, Pp 276-280 (2016) The Indian Journal of Medical Research |
| ISSN: | 0971-5916 |
| Popis: | Background & objectives: Clinically, nephrotic syndrome (NS) is a diverse group of symptoms; about 20 per cent of NS cases are resistant to steroid treatment, and within ten years they progress to end-stage renal disease. The present study was undertaken to identify the mutations of Wilms' tumour 1 (WT1) gene in steroid-resistant NS (SRNS) children. Methods: A total of 173 children with SRNS and 100 children in the control group were enrolled in the study. DNA extraction was done, screened for WT1 (exons 8 and 9) gene amplified by polymerase chain reaction and direct sequencing. Karyotype analyses were done for WT1 mutation cases. Results: WT1 mutations were found in three of 173 SRNS cases (2 girls, 1 boy). All of them had intron 9 (IVS 9 + 4 C>T, 2; IVS + 5 G>A, 1) mutation. Of these three cases, one had familial and another two had sporadic history. Renal histology analysis showed two cases with focal segmental glomerulosclerosis (FSGS) and they had external female genitalia but 46,XY karyotype. Both of them had streak gonads. Of the three cases, one expired. Interpretation & conclusions: The findings of the present study indicate that all females with SRNS-FSGS should be screened for WT1 gene mutation to diagnose whether they have FS for possible gonadectomy. |
| Databáze: | OpenAIRE |
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