Damlin Anna, Kjellberg Felix, Themudo Raquel, Chow Kelvin, Engblom Henrik, Oscarson Mikael, Nickander Jannike
Department of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden; Department of Cardiology, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Department of Clinical Physiology, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
J Cardiovasc Magn Reson. 2024;26(2):101104. doi: 10.1016/j.jocmr.2024.101104. Epub 2024 Sep 25.
Fabry disease (FD) is an X-linked inherited lysosomal storage disease that is caused by deficient activity of the enzyme alpha-galactosidase A. Cardiovascular magnetic resonance (CMR) imaging can detect cardiac sphingolipid accumulation using native T1 mapping. The kidneys are often visible in cardiac CMR native T1 maps; however, it is currently unknown if the maps can be used to detect sphingolipid accumulation in the kidneys of FD patients. Therefore, the aim of this study was to evaluate if cardiac-dedicated native T1 maps can be used to detect sphingolipid accumulation in the kidneys.
FD patients (n = 18, 41 ± 10 years, 44% (8/18) male) and healthy subjects (n = 38, 41 ± 16 years, 47% (18/38) male) were retrospectively enrolled. Native T1 maps were acquired at 1.5T using modified Look-Locker inversion recovery research sequences. Native T1 values were measured by manually delineating regions of interest (ROI) in the renal cortex, renal medulla, heart, spleen, blood, and liver. Endo- and epicardial borders were delineated in the myocardium and averaged across all slices. Blood ROIs were placed in the left ventricular blood pool in the midventricular slice.
There were no differences in native T1 between the FD patients and the healthy subjects in the renal cortex (1034 ± 88 ms vs 1056 ± 59 ms, p = 0.29), blood (1614 ± 111 ms vs 1576 ± 100 ms, p = 0.22), spleen (1143 ± 45 ms vs 1132 ± 70 ms, p = 0.54), or liver (568 ± 49 ms vs 557 ± 47 ms, p = 0.41). Native myocardial T1 was lower in FD patients compared to healthy subjects (951 ± 79 vs 1006 ± 38, p<0.01), and higher in the renal medulla (1635 ± 144 vs 1514 ± 81, p<0.01).
Compared to healthy subjects, patients with FD and cardiac involvement showed no differences in native T1 of the renal cortex. FD patients had higher native T1 in the renal medulla, which is not totally explained by differences in blood native T1 but may reflect a hyperfiltration state in the development of renal failure. The findings suggest that sphingolipid accumulation in the renal cortex in FD patients could not be detected with cardiac-dedicated research native T1 maps.
法布里病（FD）是一种X连锁遗传性溶酶体贮积病，由α-半乳糖苷酶A活性缺乏引起。心血管磁共振（CMR）成像可通过天然T1映射检测心脏鞘脂蓄积。在心脏CMR天然T1图中肾脏通常可见；然而，目前尚不清楚这些图是否可用于检测FD患者肾脏中的鞘脂蓄积。因此，本研究的目的是评估心脏专用的天然T1图是否可用于检测肾脏中的鞘脂蓄积。
回顾性纳入FD患者（n = 18，41±10岁，44%（8/18）为男性）和健康受试者（n = 38，41±16岁，47%（18/38）为男性）。使用改良的Look-Locker反转恢复研究序列在1.5T下采集天然T1图。通过手动勾勒肾皮质、肾髓质、心脏、脾脏、血液和肝脏中的感兴趣区域（ROI）来测量天然T1值。在心肌中勾勒心内膜和心外膜边界，并在所有切片上求平均值。血液ROI置于心室中部切片的左心室血池中。
FD患者与健康受试者在肾皮质（1034±88 ms对1056±59 ms，p = 0.29）、血液（1614±111 ms对1576±100 ms，p = 0.22）、脾脏（1143±45 ms对1132±70 ms，p = 0.54）或肝脏（568±49 ms对557±47 ms，p = 0.41）的天然T1值无差异。与健康受试者相比，FD患者的天然心肌T1较低（951±79对1006±38，p<0.01），而肾髓质中的天然T1较高（1635±144对1514±81，p<0.01）。
与健康受试者相比，有心脏受累的FD患者肾皮质的天然T1无差异。FD患者肾髓质的天然T1较高，这不能完全由血液天然T1的差异来解释，但可能反映了肾衰竭发展过程中的高滤过状态。研究结果表明，心脏专用的研究性天然T1图无法检测到FD患者肾皮质中的鞘脂蓄积。
