Studies of the aetiology of neonatal hepatitis and biliary atresia.

Clinical utility gene card for: Alagille Syndrome (ALGS)

“…9,10 1.8 Estimated frequency of the disease (incidence at birth ('birth prevalence') or population prevalence) In 1977, the incidence of ALGS was estimated to be 1 in 70 000 live births. 11 However, given that not all patients with ALGS present with neonatal cholestasis, as the original estimate assumes, this figure is thought to be an underestimate. Based on the work by Kamath et al 10 in 2003 we estimate that the incidence of ALGS is 1 in 30 000-50 000 live births, but due to the variable phenotype it is likely to remain underdiagnosed.…”

Alagille syndrome: pathogenesis, diagnosis and management

“…Cases were first reported by Alagille et 3 leading to the establishment of diagnostic criteria. The prevalence is reported to be 1:70 000, based on the presence of neonatal liver disease, 4 but this is almost certainly a significant underestimate, because it does not take into account the variability and reduced penetrance of the condition, which became clear through family studies and the advent of genetic testing. The majority of cases (B97%) are caused by haploinsufficiency of the JAG1 gene 5,6 on 20p11.2-20p12 (encoding JAGGED1), either due to mutations (the large majority) or deletions at the locus.…”

Cholestatic Jaundice in Infants – An Experience in Tertiary Care Hospital

“…About 70% cases of neonatal cholestasis are due to biliary atresia & Idiopathic neonatal hepatitis (INH) 3 . Idiopathic neonatal hepatitis occurs more commonly in males, especially those born prematurely or with low birth weight; there is a familial incidence of approximately 10% to 20% 4 .…”