The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis
| العنوان: | The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis |
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| المؤلفون: | Cheryl A. Winkler, Glenda Moonsamy, H Maher, June Fabian, Cecil Levy, Melanie A. Govender, Errol Gottlich, Michèle Ramsay |
| المصدر: | Communications Biology Communications Biology, Vol 2, Iss 1, Pp 1-7 (2019) |
| بيانات النشر: | Springer Science and Business Media LLC, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, Nephrotic Syndrome, Apolipoprotein L1, Drug Resistance, 030232 urology & nephrology, Medicine (miscellaneous), medicine.disease_cause, Gastroenterology, Exon, 0302 clinical medicine, Focal segmental glomerulosclerosis, Child, lcsh:QH301-705.5, Mutation, Molecular medicine, biology, Glomerulosclerosis, Focal Segmental, Intracellular Signaling Peptides and Proteins, Pedigree, Child, Preschool, Female, Steroids, General Agricultural and Biological Sciences, medicine.medical_specialty, Genotype, Black People, Renal function, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Internal medicine, Genetics, medicine, Humans, Alleles, business.industry, Haplotype, Membrane Proteins, medicine.disease, Steroid-resistant nephrotic syndrome, 030104 developmental biology, lcsh:Biology (General), Amino Acid Substitution, Haplotypes, biology.protein, Podocin, business |
| الوصف: | In black African children with focal segmental glomerulosclerosis (FSGS) there are high rates of steroid resistance. The aim was to determine genetic associations with apolipoprotein L1 (APOL1) renal risk variants and podocin (NPHS2) variants in 30 unrelated black South African children with FSGS. Three APOL1 variants were genotyped and the exons of the NPHS2 gene sequenced in the cases and controls. APOL1 risk alleles show a modest association with steroid sensitive nephrotic syndrome (SSNS) and steroid resistant nephrotic syndrome (SRNS). The NPHS2 V260E variant was present in SRNS cases (V/V = 5; V/E = 4; E/E = 11), and was absent in SSNS cases. Haplotype analysis suggests a single mutation origin for V260E and it was associated with a decline in kidney function over a 60-month period (p = 0.026). The V260E variant is a good predictor of autosomal recessive SRNS in black South African children and could provide useful information in a clinical setting. Govender et al. report that the common African mutation V260E in the podocin protein is associated with autosomal recessive steroid resistant nephrotic syndrome in black South African children with biopsy-proven focal segmental glomerulosclerosis. This variant was absent in children with steroid sensitive nephrotic syndrome, indicating its utility in treatment decisions. |
| تدمد: | 2399-3642 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0b8e726456840a7ba28ea36e563a5c9 https://doi.org/10.1038/s42003-019-0658-1 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....e0b8e726456840a7ba28ea36e563a5c9 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 23993642 |
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