Naslov
A long term follow up of two siblings with Alagille syndrome

Autori
Crnković Ćuk, Matea ; Perše, Barbara ; Žaja, Orjena

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
BMJ Archives of diseses in childhood, vol.106 suppl 2 / - Zagreb : BMJ, 2021, 104-105

Skup
10th Congress of European Paediatric Association EPA/UNEPSA jointly held with 14 th Congress of Croatian Paediatric Society

Mjesto i datum
Zagreb, Hrvatska, 07.10.2021. - 09.10.2021

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Alagille syndrome ; cholestasis ; children

Sažetak
Alagille syndrome (AGS) is a rare genetic disorder inherited in autosomal dominant pattern that affects the liver, heart, and other organ systems. Major feature of AGS is liver damage caused by paucity of the bile ducts which leads to chronic cholestasis marked by jaundice, pruritus, xanthomas and sometimes cirrhosis. Common associated anomalies include cardiac anomalies (peripheral pulmonary stenosis), butterfly vertebrae, posterior embryotoxon, dysmorphic facies and renal dysplasia. We present a long-term follow up of two siblings aged 13 and 7 year diagnosed with AGS during infancy. The older sibling, female, presented at 7 weeks with jaundice and history of acholic stools and dark urine. Laboratory tests confirmed cholestasis with elevated liver enzymes, bile acids, alpha-feto- protein and 5’-nucleotidase. Hepatic scintigraphy confirmed severe intrahepatic cholestasis. Ursodeoxicolic acid (UDCA) and phenobarbitone were introduced. Due to dysmorphic facial features (prominent forehead, broad nasal bridge, triangular facies and deep set eyes) AGS was suspected and confirmed by further evaluation

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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