Alagille syndrome in Argentina: Clinical findings and insights from 20 years in a tertiary hospital
Hector Gustavo Boldrini 1, Belen Pallitto1, Guillermo Vera1, Victoria Fernandez de Cuevas1, Lorena Cavalieri1, Camila Sanchez1, Tatiana Bendersky1, Daniel D´Agostino1.
1Pediatric Gastroenterology, Hepatology and Liver Trasplant, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina
Objectives and Study: Alagille syndrome (ALGS) is a multisystem disorder characterized by chronic cholestasis with associated pruritus and extrahepatic anomalies. This study aimed to describe the baseline characteristics and natural history of liver disease in a cohort of children with ALGS in a Tertiary Hospital in Argentina
Methods: This was a retrospective study of children with a clinically and/or genetically confirmed ALGS diagnosis, between January 2000 and 2024. The medical records were retrospectively reviewed.
Results: Forty children with ALGS syndrome were included in the study. ( table 1)
| Male |
75% (30/40) |
|
Genetically diagnoses,% |
20% (8/40) |
|
Liver involvement |
87,5% (35/40) |
|
Cardiac anomaly |
82.05% (32/40) |
|
Facies |
78.3% (29/40) |
|
Embryotoxon |
42% (16/40) |
|
Butterfly vertebrae |
52.5% (21/40) |
|
Renal anomaly |
30,7% (12/40) |
|
Vascular involvement |
10% (4/40) |
|
Median values |
|
|
Bile acids, μmol/L |
80.3 (36– 180) |
|
TB, mg/dl |
10.9 (1.7–16.8) |
|
CB, mg/dl |
6.35 (0.6–9.65) |
|
ALT, IU/L |
184.5 (104-233) |
|
AST, IU/L |
175 (110 - 242) |
|
GGT, U/L |
197 (109-368 ) |
|
Cholesterol,mg/dl |
338 (186-694) |
|
Platelet |
282 (193-380) |
Pruritus was reported in 82.5% (33/40) of children. The primary indications for LT were complications of cholestasis in 87.5% (21/24) and manifestations of PHT in 12.5% (3/24). In addition, 75% (8/24) of transplant recipients had more than one indication for LT. Median age for LT 34.8 months (19.7-54.2).
At 5,10,and 15 years, the rate of overall patient survival was 90%, 87,5%, and 80%, respectively. The median age of death was 42.3 months (18.2-169.3).
Conclusions: This study provides insights into the baseline characteristics and natural history of liver disease in children with ALGS in Argentina. Our findings highlight the complex interplay between chronic cholestasis, pruritus, and extrahepatic manifestations of ALGS. Understanding these elements characterizing the disease's progression can aid in improving patient management and tailoring therapeutic approaches. Furthermore, our data may serve as a reference for future research in LATAM, fostering a better understanding of ALGS in diverse populations.
[1] Liver Trasplant
[2] Alagille syndrome
[3] Chronic cholestasis