Evidence map›Paper›PMID 40237890›Full record

ArticleJournal of nephrology2025

Phenotype-genotype correlations in patients with Alport syndrome from the Polish population.

Maria Malarska, Hanna Moczulska, Paulina Pachniak, Karolina Gadzalska, Paulina Jakiel, Monika Gorządek, Ewa Juścińska, Michał Pietrusiński, Marcin Mazerant, Agnieszka Pukajło-Marczyk and 4 more

Abstract read
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Article in Journal of nephrology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
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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

14 authors.

Maria MalarskaDepartment of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213, Lodz, Poland.
Hanna MoczulskaDepartment of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213, Lodz, Poland.
Paulina PachniakDepartment of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213, Lodz, Poland.
Karolina GadzalskaDepartment of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213, Lodz, Poland.
Paulina JakielDepartment of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213, Lodz, Poland.
Monika GorządekDepartment of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213, Lodz, Poland.
Ewa JuścińskaDepartment of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213, Lodz, Poland.
Michał PietrusińskiDepartment of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213, Lodz, Poland.
Marcin MazerantDepartment of Otorhinolaryngology, District Hospital in Radomsko, Radomsko, Poland.
Agnieszka Pukajło-MarczykDepartment of Pediatric Nephrology, Wroclaw Medical University, Wroclaw, Poland.
Katarzyna Kiliś-PstrusińskaDepartment of Pediatric Nephrology, Wroclaw Medical University, Wroclaw, Poland.
Alicja MajosDepartment of General and Transplant Surgery, Medical University of Lodz, Lodz, Poland.
Michał Podgórski3rd Radiology and Imaging Diagnostics Department, Medical University of Lodz, Lodz, Poland.
Agnieszka ZmysłowskaDepartment of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213, Lodz, Poland. agnieszka.zmyslowska@umed.lodz.pl.ORCID http://orcid.org/0000-0001-8781-4469

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAlport syndrome (AS) is a rare inherited kidney disease associated with progressive renal failure and visual and hearing disorders. The purpose of this study was to find genetic variants in patients with suspected Alport syndrome from Central and Southwestern Poland and their association with the clinical course of the disease, and to evaluate the impact of Alport syndrome on pregnancy.

methodsInitially, 90 patients with suspected Alport syndrome were evaluated by molecular-based testing. Clinical analyses, including urinalysis, evaluation of serum parameters, ultrasound, ophthalmologic, cardiovascular and audiology examination, and genetic testing were performed using next-generation sequencing and the Sanger method.

resultsSeventy-seven patients (40.26% male; 59.74% female) with a median age of 6 years were included in the study group, after receiving a diagnosis of Alport syndrome. Twenty pathogenic/potentially pathogenic variants within the COL4A3, COL4A4 and COL4A5 genes were identified in these patients. The c.1871G > A variant in the COL4A5 gene was the most common (53.25%). Isolated hematuria was the most common initial sign of Alport syndrome (70.8%). Genetic testing confirmed Alport syndrome in 85% of symptomatic patients and in 15% of asymptomatic patients. Sensorineural hearing loss (17%) and ocular abnormalities (6%) were also detected in patients in the study group. Isolated hematuria showed a significant association with COL4A5 gene variants (p < 0.001). Genetic variants showed an association with initial clinical symptoms and age at Alport syndrome manifestation.

conclusionsRegular urinalysis and genetic testing should be considered in suspected cases of Alport syndrome for rapid diagnosis and effective patient management.

Indexed as

AutoantigensCollagen Type IVNephritis, HereditaryAdolescentAdultChildChild, PreschoolFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansMaleMutationPhenotypePolandPregnancyAutoantigensCOL4A4 protein, humanCOL4A5 protein, humanCollagen Type IVtype IV collagen alpha3 chainAlport syndromeGenesKidneyNephrology

Identifiers

PMID40237890

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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.