ArticlePediatric nephrology (Berlin, Germany)2025
Cracking the code: an integrated electronic medical record approach to early diagnosis of genetic kidney disease in children with microscopic haematuria.
Article in Pediatric nephrology (Berlin, Germany), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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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.
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Who cites it
2 citing papers in PubMed.
- Picking Up the Phone: Clinical Perspectives on Recontacting Patients and Their Families.Journal of paediatrics and child health · 2026Review
- Using Large Genomic Biobanks to Generate Insights into Genetic Kidney Disease.Seminars in nephrology · 2025Review
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMicroscopic haematuria (MH) is a common incidental finding in childhood that typically resolves spontaneously but, if persistent, can be a sign of underlying genetic kidney disease. Best practice indicates that all MH samples should be followed up to ensure resolution. Repeat sampling often does not occur, and an opportunity to diagnose and manage genetic kidney disease is missed, with substantial resultant preventable morbidity. The quality gap between recommended follow-up and actual practice represented an opportunity to improve care.
methodsA retrospective audit of the electronic medical record (EMR) was carried out to identify patients with documented MH but in whom follow-up results within the reference range were lacking. Digital tools were used to link bulk communication functions within the EMR. Families were contacted and offered repeat testing. Persistent findings of MH were referred to the Kidney Genomics Clinic (KGC).
resultsThere were 1,335 children/families contacted. The overall response rate was 21%. Two hundred sixty-two children had normal repeat urinalysis. There were 16 children with MH. Fifteen underwent genomic testing. Five children were diagnosed with Alport syndrome (AS), and subsequently, two family members were.
conclusionsIt is feasible to support the early diagnosis of genetic kidney disease using digital health tools. The lack of true interoperability within healthcare systems remains a barrier. This issue prevented the solution from being fully digital and created a manual element of follow-up. Prospective digital solutions are being explored to improve follow-up rates of incidental findings of MH and facilitate early diagnosis of genetic kidney disease.
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Registered trials
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