[논문]A patient with multiple arterial stenosis diagnosed with Alagille syndrome: A case report

Lee, Yoon Ha; Jeon, Yong Hyuk; Lim, Seon Hee; Ahn, Yo Han; Lee, Sang-Yun; Ko, Jung min; Ha, II-Soo; Kang, Hee Gyung

doi:10.5734/jgm.2021.18.2.142

A patient with multiple arterial stenosis diagnosed with Alagille syndrome: A case report 원문보기

Journal of genetic medicine, v.18 no.2, 2021년, pp.142 - 146

Lee, Yoon Ha (Department of Pediatrics, Seoul National University Hospital) , Jeon, Yong Hyuk (Department of Pediatrics, Seoul National University Hospital) , Lim, Seon Hee (Department of Pediatrics, Uijeongbu Eulji Medical Center, Eulji University) , Ahn, Yo Han (Department of Pediatrics, Seoul National University Hospital) , Lee, Sang-Yun (Department of Pediatrics, Seoul National University Hospital) , Ko, Jung min (Department of Pediatrics, Seoul National University Hospital) , Ha, II-Soo (Department of Pediatrics, Seoul National University Hospital) , Kang, Hee Gyung (Department of Pediatrics, Seoul National University Hospital)

Abstract ▼ AI-Helper

Alagille syndrome (AGS) is a rare autosomal dominant inherited disorder, with major clinical manifestations of bile duct paucity, cholestasis, cardiovascular anomaly, ophthalmic abnormalities, butterfly vertebrae, and dysmorphic facial appearance. It is caused by heterozygous mutations in JAG1 or NOTCH of the Notch signaling pathway presenting with variable phenotypic penetrance and involving multiple organ systems. The following case report describes a unique case of a 16-year-old female with AGS who presented with the primary complaint of renovascular hypertension. She had a medical history of ventricular septal defect and polycystic ovary syndrome. The patient had a dysmorphic facial appearance including frontal bossing, bulbous tip of the nose, a pointed chin with prognathism, and deeply set eyes with mild hypertelorism. Stenoocclusive changes of both renal arteries, celiac artery, lower part of the abdominal aorta, and left intracranial artery, along with absence of the left internal carotid artery were found on examination. Whole exome sequencing was performed and revealed a pathologic mutation of JAG1, leading to the diagnosis of AGS. Reverse phenotyping detected butterfly vertebrae and normal structure and function of the liver and gallbladder. While the representative symptom of AGS in most scenarios is a hepatic problem, in this case, the presenting clinical features were the vascular anomalies. Clinical manifestations of AGS are diverse, and this case demonstrates that renovascular hypertension might be in some cases a presenting symptom of AGS.

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Turnpenny PD, Ellard S. Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet 2012;20:251-7.

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Kamath BM, Spinner NB, Emerick KM, Chudley AE, Booth C, Piccoli DA, et al. Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation 2004;109:1354-8.

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Spinner NB, Gilbert MA, Loomes KM, Krantz ID. Alagille syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, eds. GeneReviews ® . Seattle (WA): University of Washington, Seattle, 1993-2021.
Doi H, Iso T, Sato H, Yamazaki M, Matsui H, Tanaka T, et al. Jagged1-selective notch signaling induces smooth muscle differentiation via a RBP-Jkappa-dependent pathway. J Biol Chem 2006;281:28555-64.

상세보기
Flynn JT, Kaelber DC, Baker-Smith CM, Blowey D, Carroll AE, Daniels SR, et al.; Subcommittee on Screening and Management of High Blood Pressure in Children. Clinical practice guideline for screening and management of high blood pressure in children and adolescents. Pediatrics 2017;140:e20171904.

상세보기
Patel PA, Cahill AM. Renovascular hypertension in children. CVIR Endovasc 2021;4:10.

상세보기
Kamath BM, Baker A, Houwen R, Todorova L, Kerkar N. Systematic review: the epidemiology, natural history, and burden of Alagille syndrome. J Pediatr Gastroenterol Nutr 2018;67:148-56.

상세보기
Yucel H, Hoorntje SJ, Bravenboer B. Renal abnormalities in a family with Alagille syndrome. Neth J Med 2010;68:38-9.

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Shrivastava R, Williams A, Mikhail A, Roberts D, Richards M, Aithal V. An unusual cause of hypertension and renal failure: a case series of a family with Alagille syndrome. Nephrol Dial Transplant 2010;25:1501-6.

상세보기
Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 1999;29:822-9.

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Kohaut J, Pommier R, Guerin F, Pariente D, Jacquemin E, Martelli H, et al. Abdominal arterial anomalies in children with Alagille syndrome: surgical aspects and outcomes of liver transplantation. J Pediatr Gastroenterol Nutr 2017;64:888-91.

상세보기
Raas-Rothschild A, Shteyer E, Lerer I, Nir A, Granot E, Rein AJ. Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome. Am J Med Genet 2002;112:75-8.

상세보기
Sanada Y, Naya I, Katano T, Hirata Y, Yamada N, Okada N, et al. Visceral artery anomalies in patients with Alagille syndrome. Pediatr Transplant 2019;23:e13352.

상세보기
Gilbert MA, Bauer RC, Rajagopalan R, Grochowski CM, Chao G, McEldrew D, et al. Alagille syndrome mutation update: comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Hum Mutat 2019;40:2197-220.

상세보기
Dedic T, Jirsa M, Keil R, Rygl M, Snajdauf J, Kotalova R. Alagille syndrome mimicking biliary atresia in early infancy. PLoS One 2015;10:e0143939.

상세보기
Osibogun O, Ogunmoroti O, Michos ED. Polycystic ovary syndrome and cardiometabolic risk: opportunities for cardiovascular disease prevention. Trends Cardiovasc Med 2020;30:399-404.

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A patient with multiple arterial stenosis diagnosed with Alagille syndrome: A case report 원문보기

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