生体肝移植後に腹部内臓動脈瘤が判明したAlagille症候群の2例

抄録

This clinical report describes two rare cases of Alagille syndrome (AGS) in which visceral aneurysms were diagnosed after living-donor liver transplantation (LDLT). The first patient is a 22-year-old man who underwent LDLT in 2009 and had two aneurysms subsequently identified in 2015-one was 12×14.5×15 mm on the inferior pancreaticoduodenal artery (IPDA) and the other 6×7×9 mm on the splenic artery (SPA). Because the IPDA aneurysm displayed a course of progression, coil embolization via interventional radiology (IVR) was performed in 2016. The other patient is a 17-year-old woman who underwent initial LDLT in 2001 followed by re-LDLT in 2002 due to intractable hepatic venous stenosis. In 2016 a fusiform aneurysm with a dimension of 7.5×7.5×17 mm was found in the superior mesenteric artery (SMA) ; however, due to its location in the main trunk of the SMA along with its fusiform nature, the patient was placed on follow-up observation as opposed to aggressive intervention. While identifying the specific causes of aneurysm development in AGS has been an elusive feat, recent studies have suggested the involvement of mutations in JAG1 or NOTCH2 which result in disruptions during smooth muscle differentiation. Given the propensity of AGS patients to develop visceral aneurysm, patients are relegated to continuous imaging examinations and IVR treatment where deemed appropriate throughout the remainder of their lifetimes.