Evidence map›Paper›PMID 42389199›Full record

ArticleClinical kidney journal2026

Clinical impact of genetic testing in inherited kidney diseases.

Lea M Merz, Sarah Stopp, Ilona Krey, Fabian Baalmann, Emilia Marczak, Nora Liebmann, Olga Hempel, Bastian M Krüger, Marie Engesser, Anne-Christin Teichmann and 10 more

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Article in Clinical kidney journal, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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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

20 authors.

Lea M MerzDepartment of Pediatric Nephrology, University of Leipzig Medical Center, Leipzig, Germany.
Sarah StoppDivision of Nephrology, University of Leipzig Medical Center, Leipzig, Germany.
Ilona KreyInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Fabian BaalmannDivision of Nephrology, University of Leipzig Medical Center, Leipzig, Germany.
Emilia MarczakDepartment of Pediatric Nephrology, University of Leipzig Medical Center, Leipzig, Germany.
Nora LiebmannDepartment of Pediatric Nephrology, University of Leipzig Medical Center, Leipzig, Germany.
Olga HempelDepartment of Pediatric Nephrology, University of Leipzig Medical Center, Leipzig, Germany.
Bastian M KrügerDivision of Nephrology, University of Leipzig Medical Center, Leipzig, Germany.
Marie EngesserDivision of Nephrology, University of Leipzig Medical Center, Leipzig, Germany.
Anne-Christin TeichmannInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Franziska SchnabelInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Rami A JamraInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Johannes LemkeInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.ORCID https://orcid.org/0000-0002-4435-6610
Carsten BergmannMedizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.
Tom H LindnerDivision of Nephrology, University of Leipzig Medical Center, Leipzig, Germany.
Jonathan de FalloisDivision of Nephrology, University of Leipzig Medical Center, Leipzig, Germany.ORCID https://orcid.org/0000-0002-6448-1881
Johannes MünchDivision of Nephrology, University of Leipzig Medical Center, Leipzig, Germany.
Jan HalbritterDivision of Nephrology, University of Leipzig Medical Center, Leipzig, Germany.ORCID https://orcid.org/0000-0002-1377-9880
Katalin DittrichDepartment of Pediatric Nephrology, University of Leipzig Medical Center, Leipzig, Germany.
Friederike PetzoldDivision of Nephrology, University of Leipzig Medical Center, Leipzig, Germany.ORCID https://orcid.org/0000-0003-3530-2888

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Inherited kidney diseases (IKDs) and congenital anomalies of the kidney and urinary tract (CAKUT) are a clinically heterogeneous subset of chronic kidney disease and rank among the leading causes of kidney failure (KF), especially in younger patients. Although next-generation sequencing has expanded diagnostic opportunities, data linking genetic findings to clinical outcomes across both adults and children remain limited. Methods: We enrolled 256 patients with suspected IKD (175 adults, 81 children) at a single tertiary center between 2020 and 2023. Genetic testing was performed using targeted panels or exome sequencing, including copy number variant (CNV) and Results: Pathogenic variants were identified in 38.7% of patients. Five genes ( Conclusions: Genetic testing provided clinically relevant diagnoses in nearly 40% of patients with suspected IKD, enabling more accurate prognostication and patient stratification. High yield in cystic disease and pediatric tubular proteinuria, sex-specific survival differences, and CNV analysis highlight the value of integrating genetics into routine nephrology care to guide diagnosis, management, and family counselling.

Indexed as

ADPKDchronic renal failureFSGSnephrotic syndromepediatricsprognosis

Identifiers

PMID42389199
PMCPMC13320241

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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.