Clinical features and multisystem manifestations of Alagille syndrome

Involved system	Clinical features	Overall frequency
Hepatic	Bile duct paucity Conjugated hyperbilirubinemia Chronic cholestasis: Pruritus Xanthomas Malnutrition Hepatic osteodystrophy Fat-soluble vitamin deficiencies Portal hypertension End-stage liver disease	Up to 100%
Cardiac	Structural abnormalities, most commonly: Pulmonary artery stenosis/hypoplasia Tetralogy of Fallot	90 to 97%
Vascular	Intracranial bleeds – Including epidural, subdural, subarachnoid, and intraparenchymal Systemic vascular anomalies – Including aorta, kidney, celiac, superior mesenteric, and subclavian arteries Other – Moyamoya syndrome	15 to 30%
Kidney	Kidney abnormalities, most commonly: Kidney dysplasia Renal tubular acidosis Ureteropelvic obstruction	39%
Skeletal	Vertebral anomalies: Hemivertebra Butterfly vertebra	33 to 93%
Facial	Prominent forehead Deep-set eyes with moderate hypertelorism Pointed chin Saddle or straight nose with bulbous tip	20 to 97%
Ocular	Posterior embryotoxon	78 to 89%

The frequencies reported in this table are derived from studies of patients who present with symptoms^[1-3]. The frequencies of these clinical features is considerably lower among individuals identified by genetic screening of family members of probands^[4].

References:

Emerick KM, Rand EB, Goldmuntz E, et al. Features of Alagille syndrome in 92 patients: Frequency and relation to prognosis. Hepatology 1999; 29:822.
Subramaniam P, Knisely A, Portmann B, et al. Diagnosis of Alagille syndrome-25 years of experience at King's College Hospital. J Pediatr Gastroenterol Nutr 2011; 52:84.
Lykavieris P, Hadchouel M, Chardot C, Bernard O. Outcome of liver disease in children with Alagille syndrome: A study of 163 patients. Gut 2001; 49:431.
Kamath BM, Bason L, Piccoli DA, et al. Consequences of JAG1 mutations. J Med Genet 2003; 40:891.

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Clinical features and multisystem manifestations of Alagille syndrome