Necessity of genetic testing on asymptomatic proteinuria before the progression of nephrotic syndrome in children with focal segmental glomerulosclerosis
- PMID: 37162573
- DOI: 10.1007/s00467-023-06016-7
Necessity of genetic testing on asymptomatic proteinuria before the progression of nephrotic syndrome in children with focal segmental glomerulosclerosis
Comment on
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High prevalence of pathogenic variants in Japanese children with steroid-resistant nephrotic syndrome without edema detected by urine screening program.Pediatr Nephrol. 2023 May;38(5):1693-1694. doi: 10.1007/s00467-022-05863-0. Epub 2023 Jan 4. Pediatr Nephrol. 2023. PMID: 36598598 No abstract available.
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Ascertaining pathogenicity of genetic variants: caution required.Pediatr Nephrol. 2023 May;38(5):1695-1696. doi: 10.1007/s00467-023-05909-x. Epub 2023 Feb 21. Pediatr Nephrol. 2023. PMID: 36809442 No abstract available.
References
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- Hanafusa H, Hidaka Y, Yamaguchi T, Shimojo H, Tsukahara T, Murase T, Matsuoka D, Chiba N, Shimada S, Morokawa H, Omori N, Minoura H, Nagano C, Takano K, Nakamura K, Wakui K, Fukushima Y, Uehara T, Nakazawa Y, Iijima K, Nozu K, Kosho T (2021) Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis. Am J Med Genet A 185:2175–2179 - DOI - PubMed
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