Evidence map›Paper›PMID 37833944›Full record

ReviewInternational journal of molecular sciences2023

Underlying Genetics of aHUS: Which Connection with Outcome and Treatment Discontinuation?

Andrea Spasiano, Daniela Palazzetti, Lucrezia Dimartino, Francesca Bruno, Rocco Baccaro, Francesco Pesce, Giuseppe Grandaliano

Open access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
2.8field-weighted citation impact, top 9% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

14 citing papers in PubMed, 17 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 2 institutions in 1 country.

Andrea SpasianoDepartment of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.ORCID 0000-0002-6044-7256
Daniela PalazzettiDepartment of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Lucrezia DimartinoDepartment of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Francesca BrunoDepartment of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Rocco BaccaroDepartment of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Francesco PesceDivision of Renal Medicine, Fatebenefratelli Isola Tiberina-Gemelli Isola, 00186 Rome, Italy.
Giuseppe GrandalianoDepartment of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Università Cattolica del Sacro Cuore · ITFatebenefratelli Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Atypical hemolytic uremic syndrome (aHUS) is a rare disease caused by a genetic dysregulation of the alternative complement pathway, characterized by thrombocytopenia, hemolytic anemia, and acute kidney injury, and included in the group of thrombotic microangiopathies. With the introduction of humanized monoclonal antibodies that inhibit C5 activation, the natural history of aHUS completely changed, with a better prognosis, a quick recovery of renal function, and a significant reduction of end-stage renal disease incidence. Nowadays, there is an increasing interest in the molecular and genetic bases of this severe disease. The aim of this narrative review is to provide readers with a practical guide about different possible involved genes, elucidating the specific role of each transcribed protein in the pathogenesis of aHUS. Moreover, we analyzed the main current evidence about the relationship among genetic mutations, outcomes, and the risk of recurrence of this manifold disease.

Indexed as

Acute Kidney InjuryAtypical Hemolytic Uremic SyndromeKidney Failure, ChronicThrombotic MicroangiopathiesHumansMutationaHUSatypical hemolytic uremic syndromeCFHgeneticsMCP

Identifiers

PMID37833944
PMCPMC10572301
OpenAlexW4386996772

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.