ArticleEJIFCC2021
A Puffy Child - A Rare Case of Steroid Resistant Nephrotic Syndrome with ANLN Mutation.
Article in EJIFCC, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- Clinical and genetic diagnosis of a patient with focal segmental glomerulosclerosis due to a novel variant of the ANLN gene.CEN case reports · 2026Article
- Effects of a novel ANLN E841K mutation associated with SRNS on podocytes and its mechanism.Cell communication and signaling : CCS · 2023Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent advances in genomics have uncovered the molecular mechanisms involved in the broad spectrum of variation associated with steroid-resistant nephrotic syndrome. Over 50 monogenic causes of steroid-resistant nephrotic syndrome have been discovered; however, these genes are implicated in only a small proportion of cases. Using a combination of whole-exome sequencing and genome-wide linkage studies, a missense mutation in anillin (ANLN) has been identified as a cause of focal segmental glomerulosclerosis, a pattern of glomerular injury associated with steroid-resistant nephrotic syndrome. We report a case of 2-year-6-month-old male child, who presented with severe edema and oliguria for 6 weeks. He was found to be an early steroid non-responder, hence renal biopsy and genetic testing were ordered. These findings were in favour of focal segmental glomerulosclerosis, a common cause of childhood steroid-resistant nephrotic syndrome. It is important to identify the causative agent to avoid unnecessary immunosuppressive therapy and its associated risks.
Indexed as
Identifiers
34819827PMC8592633W3217645721What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.