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TürkiyeDiagnosis and screening

Genetic testing in 63 adults with suspected inherited kidney disease in Ankara: Alport was the most common diagnosis

Peer-reviewed publication

A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.

At Ankara University, 63 adults with kidney disease of unknown cause underwent genetic testing. A genetic diagnosis was made in 54% of patients. 67.6% of the diagnoses found were in the Alport syndrome group. Among those with suspected Alport, the test's diagnostic rate was 75%. The tests changed the diagnosis in some patients.

What does it mean for patients and families?

If there is kidney disease in the family, or hearing and eye findings, genetic testing can help with diagnosis. This may be even more important in families where marriage between relatives is common.

Source

PubMed (Journal of Clinical Practice and Research): Diagnostic Yield and Clinical Utility of Genetic Testing in Turkish Adults with Suspected Inherited Kidney Disease: Insights from a Population with High Parental Consanguinity.

Scientific paper: Diagnostic Yield and Clinical Utility of Genetic Testing in Turkish Adults with Suspected Inherited Kidney Disease: Insights from a Population with High Parental Consanguinity. Journal of Clinical Practice and Research, 2026. DOI: 10.14744/cpr.2026.44798 · PubMed 42305280

The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).

This page is translated from the Turkish original.

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This page was translated from Turkish by the Doktorclub editorial team.