We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Prevalence of kidney health genetic variants in adults with sickle cell nephropathy.
- Authors
Ruiz, Maria Armila; Zhang, Xu; Mansilla, M. Adela; Zahr, Rima S.; Thomas, Christie P.; Smith, Richard J.; Gordeuk, Victor R.; Saraf, Santosh L.
- Abstract
Summary: 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.
- Subjects
GENETIC variation; SICKLE cell anemia; KIDNEY diseases; ADULTS; GLOMERULAR filtration rate; NEPHROLOGY
- Publication
British Journal of Haematology, 2024, Vol 205, Issue 1, p316
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.19525