Alagille syndrome

A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.

Hypercholesterolemia

An increased concentration of cholesterol in the blood.


合計: 7

                       


（表示件数）
PMID (PMCID)
27967296
 MALE Infant
New JAG1 Mutation Causing Alagille Syndrome Presenting With Severe Hypercholesterolemia: Case Report With Emphasis on Genetics and Lipid Abnormalities.
Hannoush ZC, Puerta H, Bauer MS, Goldberg RB.
J Clin Endocrinol Metab. 2017;102(2):350-353.
New JAG1 Mutation Causing Alagille Syndrome Presenting With Severe Hypercholesterolemia: Case Report With Emphasis on Genetics and Lipid Abnormalities.
27967296
 MALE Infant
New JAG1 Mutation Causing Alagille Syndrome Presenting With Severe Hypercholesterolemia: Case Report With Emphasis on Genetics and Lipid Abnormalities.
Hannoush ZC, Puerta H, Bauer MS, Goldberg RB.
J Clin Endocrinol Metab. 2017;102(2):350-353.
Here, we report a unique case of a patient diagnosed with Alagille syndrome who was found to have a previously undescribed frameshift pathogenic mutation in the JAG1 gene and who presented with xanthomatosis and levels of hypercholesterolemia more than 2 times higher than those previously reported in the literature.
28492167
 MALE Child
Management of cholestatic pruritus in children with Alagille syndrome: Case report and literature review.
Ben Ameur S, Chabchoub I, Telmoudi J, Belfitouri Y, Rebah O, Lacaille F, Aloulou H, Mehrzi A, Hachicha M.
Arch Pediatr. 2016;23(12):1247-1250.
In this report, we describe a child with Alagille syndrome who presented with severe pruritus and xanthomas as a consequence of severe hypercholesterolemia and discuss the treatment modalities.
22923029
 FEMALE
Atherosclerosis causing recurrent catastrophic aortopulmonary shunt dehiscence in a patient with Alagille syndrome.
May L, Hanley FL, Connolly AJ, Reddy S.
Pediatr Cardiol. 2013;34(8):1945-8.
This report describes a 3 year-old girl with Alagille syndrome, hepatic cholestasis, systemic hypertension, hypercholesterolemia, hypertriglyceridemia, and tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals (TOF/PA/MAPCAs).
22813814
 MALE Infant
Partial internal biliary diversion for Alagille syndrome: case report and review of the literature.
Sheflin-Findling S, Arnon R, Lee S, Chu J, Henderling F, Kerkar N, Iyer K.
J Pediatr Surg. 2012;47(7):1453-6.
Alagille syndrome is a hereditary disease resulting in chronic cholestasis and hypercholesterolemia that can lead to severe and intractable pruritus and disfiguring and debilitating xanthomas.
16410117
 MIXED_SAMPLE Infant
Relief of intractable pruritus in Alagille syndrome by partial external biliary diversion.
Mattei P, von Allmen D, Piccoli D, Rand E.
J Pediatr Surg. 2006;41(1):104-7; discussion 104-7.
Patients with Alagille syndrome (AGS) may develop pruritus, skin hypertrophy, and xanthomas because of chronic cholestasis and hypercholesterolemia.
6862162
 OTHER Infant, Newborn
Tubulointerstitial nephropathy associated with arteriohepatic dysplasia.
Hyams JS, Berman MM, Davis BH.
Gastroenterology. 1983;85(2):430-4.
An infant with a variant of arteriohepatic dysplasia (characteristic facies, valvular and peripheral pulmonic stenosis, hypercholesterolemia, intrahepatic cholestasis) and a severe tubulointerstitial nephropathy is described.