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

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

doi:10.1111/bjh.19525

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

Journal article

Peer reviewed

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

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

British journal of haematology, Vol.205(1), pp.316-319

05/12/2024

DOI: 10.1111/bjh.19525

PMCID: PMC11245361

PMID: 38735682

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Abstract

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 glomerular genetic variants had higher albuminuria and lower estimated glomerular filtration rate (adjusted p ≤ 0.015). Using a panel of preselected genes implicated in kidney health, we observed several variants in people with sickle cell nephropathy.

genetic variants

albuminuria

kidney disease

INF2

sickle cell disease

Details

Title: Subtitle: Prevalence of kidney health genetic variants in adults with sickle cell nephropathy
Creators: Maria Armila Ruiz - University of Illinois Chicago
Xu Zhang - University of Illinois Chicago
M Adela Mansilla - University of Iowa
Rima S Zahr - University of Tennessee Health Science Center
Christie P Thomas - University of Iowa
Richard J Smith - University of Iowa
Victor R Gordeuk - University of Illinois Chicago
Santosh L Saraf - University of Illinois Chicago
Resource Type: Journal article
Publication Details: British journal of haematology, Vol.205(1), pp.316-319
DOI: 10.1111/bjh.19525
PMID: 38735682
PMCID: PMC11245361
NLM abbreviation: Br J Haematol
eISSN: 1365-2141
Grant note: R01 HL153161 / NHLBI NIH HHS
Language: English
Electronic publication date: 05/12/2024
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Obstetrics and Gynecology; Nephrology; Otolaryngology; Internal Medicine; Iowa Institute of Human Genetics
Record Identifier: 9984625293102771

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