Senior–Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report

Chronic kidney disease in Senior-Løken syndrome is often diagnosed late, leading to a poor clinical outcome. Early diagnosis and timely management of renal complications can prevent the progression to end-stage renal disease.

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Publication Details

Journal
Journal of Medical Case Reports
Published
2025-11-28
DOI
https://doi.org/10.1186/s13256-025-05655-8
Primary Topic
Genetic and Kidney Cyst Diseases
Type
article
Field-Weighted Citation Impact
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article

Senior–Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report

Sibel Gökçay Bek, İrem Demirtas
Journal of Medical Case Reports
Genetic and Kidney Cyst Diseases
article

Senior–Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report

Sibel Gökçay Bek, İrem Demirtas
article en

Abstract

Chronic kidney disease in Senior-Løken syndrome is often diagnosed late, leading to a poor clinical outcome. Early diagnosis and timely management of renal complications can prevent the progression to end-stage renal disease.

Journal of Medical Case ReportsVol. 19(1)
Kocaeli Üniversitesi (TR)
Openalex Percentile: Top 61%
Genetic and Kidney Cyst Diseases
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Senior–Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report — Sibel Gökçay Bek, İrem Demirtas · Journal of Medical Case Reports (2025) | TGRS Research Map | TGRS