ArticleJournal, genetic engineering & biotechnology2026
Comprehensive gene profiling by Next-Generation sequencing in a cohort of Egyptian pediatric Atypical HUS.
Article in Journal, genetic engineering & biotechnology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAtypical hemolytic uremic syndrome (aHUS) is a rare, severe condition in children, resulting from uncontrolled complement activation caused by genetic factors or autoantibodies; it usually has a poor prognosis. Early identification of the underlying genetic variants is crucial for guiding management and predicting outcomes. This study aimed to identify gene mutations in Egyptian children with aHUS at an early stage. This would enable the selection of the most appropriate treatment options and help prevent adverse outcomes for the patients.
methodsThis is an observational cohort study, included 21 children with a clinical diagnosis of aHUS who presented to the Pediatric Nephrology Unit and general wards of Cairo University Children's Hospital between June 2022 and January 2024 with a follow-up duration of 12 months (median). All patients underwent whole exome sequencing (WES). Clinical data, treatment regimens, and outcomes were recorded and analyzed.
resultAmong the 21 patients, around one third had negative WES results while 28.57 % showed CFHR 3/CFHR1 deletion. Most patients progressed to chronic kidney disease (52.4 %), while 28.6 % recovered their kidney functions following plasmapheresis. A significant association was observed between WES category and disease relapse (p = 0.021); patients with CFHR3 deletion, CFHR5 deletion, or MMUT variant developed at least one attack of relapse.
conclusionsEgyptian children with aHUS demonstrate marked genetic heterogeneity. A substantial proportion lacked identifiable pathogenic variants, highlighting the complexity of the disease. CFHR3/CFHR1 deletion was the most frequent finding. Genetic profiling remains crucial for anticipating relapse risk and guiding therapeutic decisions, particularly in resource-limited settings.
Indexed as
Identifiers
What 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.