Evidence map›Paper›PMID 41258563›Full record

ArticleMolecular biology reports2025

Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease.

Khalda S Amr, Hala T El-Bassyouni, Eman Rabie, Fatina I Fadel, Nahla Mohamed Teama, Abeer Selim, Khaled Hamed, Rasha Helmy, Manal Abd El-Salam, Hoda A Ahmed

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Article in Molecular biology reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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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

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Khalda S AmrMedical Molecular Genetics Department, Human Genetics & Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.
Hala T El-BassyouniClinical Genetics Department, Human Genetics & Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.
Eman RabieMedical Molecular Genetics Department, Human Genetics & Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.
Fatina I FadelDepartment of Pediatrics and Transplantation Units, Faculty of Medicine, Cairo University, Kasr Alaini, Egypt.
Nahla Mohamed TeamaDepartment of Internal Medicine and Nephrology, Ain Shams University, Cairo, Egypt.
Abeer SelimDepartment of Pediatrics, Medical Research and Clinical Studies Institute, National Research Centre, Cairo, Egypt.
Khaled HamedClinical Genetics Department, Human Genetics & Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.
Rasha HelmyDepartment of Pediatrics and Transplantation Units, Faculty of Medicine, Cairo University, Kasr Alaini, Egypt.
Manal Abd El-SalamDepartment of Pediatrics, Faculty of Medicine (for girls), Al-Azhar University, Cairo, Egypt.
Hoda A AhmedMedical Molecular Genetics Department, Human Genetics & Genome Research Institute, National Research Centre (NRC), Cairo, Egypt. hoda_radwan80@yahoo.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundWhole Exome sequencing (WES) is emerging as the primary diagnostic strategy for chronic kidney disease (CKD), a major public health concern, and its diagnostic yield is dependent on the patient selection criteria and techniques used.

methodsThis study aimed to investigate molecular defects in patients with clinically suspected monogenic CKD using WES. A total of 160 pediatric and adult patients presenting with diverse chronic kidney disorders were enrolled; 134 were subjected to WES analysis.

resultsWES identified genetic causes in 89 patients, with a diagnostic yield of 66.4%. A total of 55 variants were characterized among our CKD patients, including 45 different pathogenic or likely pathogenic variants and ten variants of uncertain significance. The diagnostic yield for the pediatric group was 76.4%, which was greater than that of the adult group (23.6%). Among the 89 patients, the molecular diagnosis aligned with the initial clinical findings in 63 patients (70.7%), refined the clinical diagnosis in five patients (5.6%), and led to a complete reclassification of the original diagnosis in 21 patients (23.6%).

conclusionsOur findings demonstrate the robust diagnostic and clinical genetic value of WES in a broad spectrum of kidney diseases.

Indexed as

Exome SequencingRenal Insufficiency, ChronicAdolescentAdultAgedChildChild, PreschoolExomeFemaleGenetic Predisposition to DiseaseHumansInfantMaleMiddle AgedMutationYoung AdultChronic kidney diseaseDiagnostic yieldMonogenic kidney diseaseNephrogeneticsWhole exome sequencing

Identifiers

PMID41258563

What Socratic holds

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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 Socratic graph.