镰状细胞肾病成人中肾脏健康遗传变异的流行情况。
Prevalence of kidney health genetic variants in adults with sickle cell nephropathy.
机构信息
Division of Hematology and Oncology, Sickle Cell Center, University of Illinois at Chicago, Chicago, Illinois, USA.
Department of Internal Medicine, University of Iowa, Iowa City, Iowa, USA.
出版信息
Br J Haematol. 2024 Jul;205(1):316-319. doi: 10.1111/bjh.19525. Epub 2024 May 12.
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.
镰状细胞病（SCD）相关慢性肾脏病（CKD）的病理生理学和遗传风险尚不清楚。在 70 名患有 SCD 相关 CKD 且未携带高风险模式的 APOL1 遗传的成年人中，使用 KidneySeq™ 在 24 名（34%）患者中发现候选基因中的致病性变异。在 20 名（29%）患者中观察到中度影响 INF2 变异，与 0-2 种致病性或中度影响肾小球遗传变异相比，具有 3 种致病性或中度影响肾小球遗传变异的患者蛋白尿更高，估算肾小球滤过率（调整后 p≤0.015）更低。使用一组预先选定的与肾脏健康相关的基因进行检测，我们在镰状细胞肾病患者中观察到了几种变异。
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