High Incidence of COL4A Genetic Variants Among a Cohort of Children With Steroid-Resistant Nephrotic Syndrome From Eastern India

Abstract

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Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life

“…In accordance with our findings, but within an older age range, COL4A variants are emerging as the leading cause of genetic SRNS in south and southeast Asian children 10,12 . Unlike other studies where FSGS was observed in all children with SRNS and COL4A variants, 8,10 our patients had mesangial proliferation only. These findings may correlate with their earlier presentation and subsequent earlier biopsies or represents unsampled FSGS.…”

“…Gast et al 22 postulated that defective expression and trafficking of the glomerular basement membrane matrix could lead to scarring, podocyte loss, and subsequent proteinuria. In accordance with our findings, but within an older age range, COL4A variants are emerging as the leading cause of genetic SRNS in south and southeast Asian children 10,12 . Unlike other studies where FSGS was observed in all children with SRNS and COL4A variants, 8,10 our patients had mesangial proliferation only.…”

“…4,5,7,8 However, NPHS2 variants accounted for 51.4% of Central European patients with CNS, 9 whereas Asian children with SRNS rarely carried a podocin mutation. 6,10,11 Alternatively, they clustered variants of WT1, 11 COQ8B, 6 or COL4A. 10,12 Kidney biopsies from patients with SRNS typically exhibit focal and segmental glomerulosclerosis (FSGS).…”

“…Conversely, NPHS2 mutations predominated between 4 months and 18 years of age 4,5,7,8 . However, NPHS2 variants accounted for 51.4% of Central European patients with CNS, 9 whereas Asian children with SRNS rarely carried a podocin mutation 6,10,11 . Alternatively, they clustered variants of WT1 , 11 COQ8B , 6 or COL4A 10,12 …”

Institute of Child Health, Kolkata, 1956–2022

“…The clinical research department, under the earnest efforts of senior researchers, has been very active, being involved in several important global and national clinical trials in vaccine, drugs for rare diseases and the pediatric COVID vaccine trial [12]. Academic research, which has been the forerunner of Institute activities since its heydays, continues to be pursued with equal zeal by the faculties and students contributing several high impact publications in international and national journals, only a few of which are cited here [13][14][15]. Senior faculty members have contributed to the development of important national guidelines in pediatric infectious diseases [16,17], pediatric nephrology [18,19], pediatric rheumatology diseases [20] and pediatric dermatology [21][22][23].…”