Prevalence of kidney health genetic variants in adults with sickle cell nephropathy-Reference-Cited by-同舟云学术

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

Published:2024-05-12 Issue:1 Volume:205 Page:316-319
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Ruiz Maria Armila¹,Zhang Xu¹^ORCID,Mansilla M. Adela²,Zahr Rima S.³^ORCID,Thomas Christie P.²,Smith Richard J.²,Gordeuk Victor R.¹^ORCID,Saraf Santosh L.¹^ORCID

Affiliation:

1. Division of Hematology and Oncology, Sickle Cell Center University of Illinois at Chicago Chicago Illinois USA

2. Department of Internal Medicine University of Iowa Iowa City Iowa USA

3. Division of Pediatric Nephrology and Hypertension University of Tennessee Health Science Center Memphis Tennessee USA

Abstract

SummaryThe 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.

Funder

National Heart, Lung, and Blood Institute

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.19525

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