Natural History of Clinical, Laboratory, and Echocardiographic Parameters of a Primary Hyperoxaluria Cohort on Long Term Hemodialysis.
Natural History of Clinical, Laboratory, and Echocardiographic Parameters of a Primary Hyperoxaluria Cohort on Long Term Hemodialysis.
复制标题
DOI：
10.3389/fmed.2021.592357
复制
发表时间：
2021
影响因子：
3.9
通讯作者：
Milliner DS
中科院分区：
文献类型：
--
作者：
Sas DJ;Enders FT;Gunderson TM;Mehta RA;Olson JB;Seide BM;Banks CJ;Dehmel B;Pellikka PA;Lieske JC;Milliner DS
背景：原发性高草酸尿1型（PH1）是一种罕见的单基因疾病，其特征是肝脏产生过量的草酸，导致复发性肾结石、肾钙质沉着症和进行性肾损害，通常需要肾脏替代治疗（RRT）。虽然系统草酸沉积是众所周知的，但在RRT过程中PH1的自然历史还没有系统的描述。在这项研究中，我们描述了一组接受RRT治疗的PH1患者的临床、实验室和超声心动图特征。方法：纳入罕见肾结石联盟PH登记处的PH1患者进展到需要RRT，在RRT开始后3-36个月进行≥2次血浆草酸（pOx）测量，并且在6至18个月之间至少有一对pOx测量进行回顾性分析。临床、超声心动图和实验室结果均来自登记处。结果：我们队列中的17例PH1患者的平均总HD小时/周为17.4 (SD 7.9；范围7.5-36)，RRT开始年龄范围为0.2-75.9岁。血浆草酸盐（pOx）随RRT时间的平均变化为−0.74[−2.9,1.4]μmol/L/月，平均pOx从未低于50 μmol/L。随着RRT治疗时间的推移，草化病在多个器官系统中逐渐发展。13例患者超声心动图显示左心室整体纵向应变加重与痘相关（p < 0.05）。结论：即使一组PH1患者接受强化RRT治疗，他们的透析前痘仍高于目标，并且出现越来越多的草酸中毒证据。超声心动图数据提示心功能障碍可能与pOx升高有关，并可能随着时间的推移而恶化。
Background: Primary hyperoxaluria type 1 (PH1) is a rare monogenic disorder characterized by excessive hepatic production of oxalate leading to recurrent nephrolithiasis, nephrocalcinosis, and progressive kidney damage, often requiring renal replacement therapy (RRT). Though systemic oxalate deposition is well-known, the natural history of PH1 during RRT has not been systematically described. In this study, we describe the clinical, laboratory, and echocardiographic features of a cohort of PH1 patients on RRT. Methods: Patients with PH1 enrolled in the Rare Kidney Stone Consortium PH Registry who progressed to require RRT, had ≥2 plasma oxalate (pOx) measurements 3–36 months after start of RRT, and at least one pair of pOx measurements between 6 and 18 months apart were retrospectively analyzed. Clinical, echocardiographic, and laboratory results were obtained from the Registry. Results: The 17 PH1 patients in our cohort had a mean total HD hours/week of 17.4 (SD 7.9; range 7.5–36) and a range of age of RRT start of 0.2–75.9 years. The average change in plasma oxalate (pOx) over time on RRT was −0.74 [−2.9, 1.4] μmol/L/month with the mean pOx never declining below 50 μmol/L. Over time on RRT, oxalosis progressively developed in multiple organ systems. Echocardiography performed on 13 subjects showed worsening of left ventricular global longitudinal strain correlated with pOx (p < 0.05). Conclusions: Even when a cohort of PH1 patients were treated with intensified RRT, their predialysis pOx remained above target and they developed increasing evidence of oxalosis. Echocardiographic data suggest that cardiac dysfunction could be related to elevated pOx and may worsen over time.
登录
查看更多内容
影响因子：
3.1
作者：
Haroon, Sabrina;Davenport, Andrew
通讯作者：
Davenport, Andrew
影响因子：
19.6
作者：
Hoppe, B;Kemper, MJ;Langman, CB
通讯作者：
Langman, CB
影响因子：
--
作者：
MOORHEAD, PJ;COOPER, DJ;TIMPERLEY, WR
通讯作者：
TIMPERLEY, WR
影响因子：
5.7
作者：
Phelan, Dermot;Collier, Patrick;Thomas, James D.
通讯作者：
Thomas, James D.
影响因子：
2.8
作者：
Bellavia, Diego;Pellikka, Patricia A.;Miller, Fletcher A., Jr.
通讯作者：
Miller, Fletcher A., Jr.