Presentation and outcome of Alagille syndrome in paediatric patients at State Academic Hospital in South Africa.

Abstract

Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder in which patients may have characteristic facial features and involvement of the liver, heart, vessels, bones, eyes, kidneys and central nervous system. As there is little published data on ALGS in Africa, our aim was to describe the presentation and outcomes of ALGS in South Africa. The study constitutes a retrospective analysis of 25 patient medical records diagnosed as ALGS at Chris Hani Baragwanath Academic Hospital Pediatric Gastroenterology clinic between January 1992 and January 2020. Twenty-five patients met the diagnostic criteria for ALGS over the period investigated. Eighteen (72%) patients were less than 1 year old at first presentation. Seven patients (28%) had all five main clinical manifestations of ALGS, and the rest had an equal proportion of four and three main clinical manifestations. Cholestasis, one of the main clinical manifestations, was present in 72%; 80.0% had the typical Alagille facial features; 64% had cardiovascular disease, 36% had ocular abnormalities and 40% had skeletal abnormalities. Of the 16 patients, (64%) who presented with cardiovascular disease, seven patients presented with more than one cardiac lesion. As of January 2020, 8 (32%) patients are still being followed up at the pediatric GIT clinic, 13 (52%) patients were lost to follow-up and four patients (16%) were demised. Low- to middle-income countries, with no readily available access to genetic testing, need to rely on diagnostic criteria to make a diagnosis of Alagille syndrome in infants who present with cholestasis.