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Article

Prevalence of kidney health genetic variants in adults with sickle cell nephropathy.

British journal of haematology - 1 Jul 2024

Ruiz Maria Armila, Zhang Xu, Mansilla M Adela, Zahr Rima S, Thomas Christie P, Smith Richard J, Gordeuk Victor R, Saraf Santosh L

Abstract excerpt

The pathophysiology and genetic risk for sickle cell disease (SCD)-related chronic kidney disease (CKD) are not well understood. In 70 adults with SCD-related CKD and without APOL1 inherited in a high-risk pattern, 24 (34%) had pathogenic variants in candidate genes using KidneySeq™. A moderate impact INF2 variant was observed in 20 (29%) patients and those with 3 versus 0-2 pathogenic or moderate impact...

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Share to Anemia, Sickle Cell
Share to Apolipoprotein L1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Genetic Variation

Share to Glomerular Filtration Rate

Share to Prevalence

Share to Renal Insufficiency, Chronic

Source

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Identifiers

PMID: 38735682
DOI: 10.1111/bjh.19525
PMCID: PMC11245361

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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