Renovascular hypertension and vascular anomalies in Alagille syndrome

Bérard, Étienne; Sarles, J.; Triolo, Valérie; Gagnadoux, Marie‐France; Wernert, François; Hadchouel, Michelle; Niaudet, Patrick

doi:10.1007/s004670050418

Cited by 62 publications

(43 citation statements)

References 17 publications

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“…7,10,12 Renovascular anomalies have been described in a series of 5 patients with AGS. 16 Angiography demonstrated unilateral or bilateral renal artery stenosis in all of these patients who presented with hypertension. In addition, these 5 patients also all had other abnormalities of their large arteries, namely the aorta, celiac artery, superior mesenteric artery, and subclavian artery.…”

Section: Discussionmentioning

confidence: 85%

Vascular Anomalies in Alagille Syndrome

et al. 2004

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Background-Alagille syndrome (AGS) is a dominantly inherited multisystem disorder involving the liver, heart, eyes, face, and skeleton, caused by mutations in Jagged1. Intracranial bleeding is a recognized complication and cause of mortality in AGS. There are multiple case reports of intracranial vessel abnormalities and other vascular anomalies in AGS. The objective of this study was to characterize the nature and spectrum of vascular anomalies in AGS. Methods and Results-Retrospective chart review of 268 individuals with AGS was performed. Twenty-five patients (9%) had noncardiac vascular anomalies or events. Sixteen patients had documented structural vascular abnormalities. Two had basilar artery aneurysms, 7 had internal carotid artery anomalies, and another had a middle cerebral artery aneurysm. Moyamoya disease was described in 1 patient. Three of the 16 patients had aortic aneurysms, and 2 had aortic coarctations. One of the patients with a basilar artery aneurysm also had coarctation of the aorta. One of the individuals with an internal carotid artery anomaly also had renal artery stenosis. Nine more patients had intracranial events without documented vessel abnormalities. Vascular accidents accounted for 34% of the mortality in this cohort. Conclusions-The vascular anomalies described in our cohort of AGS individuals identify an underrecognized and potentially devastating complication of this disorder. It is a major cause of morbidity and mortality in this population, accounting for 34% of the mortality. We have also reviewed the body of evidence supporting a role for Jagged1 and the Notch signaling pathway in vascular development.

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Section: Discussionmentioning

confidence: 85%

Vascular Anomalies in Alagille Syndrome

et al. 2004

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“…Therefore, JAG1 mutations are thought to cause multiple organ abnormalities. Renal involvement, such as renal tubular dilatation, agenesis or hypogenesis, and renal tubular acidosis, have been reported in 40~70% of patients with Alagille syndrome [7,8]. Here we report a female patient with Alagille syndrome who manifested severe hypertension caused by renal artery stenosis in a solitary functioning kidney.…”

Section: Introductionmentioning

confidence: 81%

“…Renal artery stenosis has recently been reported in Alagille syndrome. Berard et al reported that renal artery stenosis was a complication in five patients with Alagille syndrome [7]. In two of the five patients, renal artery stenosis was recognized at second angiography, indicating that the stenosis might be progressive.…”

Section: Discussionmentioning

confidence: 98%

Successful stenting for renal artery stenosis in a patient with Alagille syndrome

et al. 2005

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A 12-year-old girl with Alagille syndrome manifested severe hypertension caused by renal artery stenosis in a solitary functioning kidney. Percutaneous transluminal angioplasty (PTA) and stenting was performed, but the hypertension persisted. On the next day, acute renal failure occurred with the administration of angiotensin-converting enzyme inhibitor, and migration of the stent was confirmed by angiography. Thus, a second stent was placed with success. Since then, the hypertension has been controlled with anti-hypertensive medication, and the renal function has recovered to normal range.

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“…Additionally, renal and vascular defects are seen in a significant percentage of patients. [2][3][4][5][6] ALGS exhibits highly variable expressivity for each of the affected systems, ranging from no apparent clinical involvement to severe disease leading to transplantation or death. 78 Risk of mortality depends on severity of organ involvement, and is most commonly related to congenital heart disease or intracranial bleeding.…”

Section: Introductionmentioning

confidence: 99%