Letter to the Editor: Much more needed in natural history of Alagille syndrome

Abstract

To the editor, We read with great interest the study by Vandriel et al., "Natural History of Liver Disease in a Large International Cohort of Children with Alagille syndrome: Results from The GALA Study." In this multicentre retrospective study only 40.3% of children reach adulthood with their native liver. The study also shows bilirubin <5.0 mg/dL between 6 and 12 months of age is associated with better hepatic outcomes. [1] Furthermore, this study has the largest cohort of Alagille syndrome patients and will assist in understanding and managing patients. However certain points needs more insight.Firstly, Alagille syndrome patients have right sided heart disease and which determines the patient survival either without transplant or with transplant. The study mentions that cardiac disease is present in 91% (n = 1231/1347), but should have also elucidated more on the type of cardiac abnormality seen in these patients. More severe cardiac deformity makes them unable to undergo dobutamine stress testing, which is mandatory according to King's College guidelines for these Alagille patients. [2] Secondly, the study showed renal involvement seen in 39% (n = 500/ 1275). The study should have also illustrated the type of kidney injury, how many had renal tubular acidosis (seen with Alagille syndrome), what was the level of renal injury (stages of acute kidney injury) and whether it was reversible with therapy or not. As 4 patients underwent combined liver-kidney transplant, knowing type of acute kidney injury in these patients might help in managing them in future. [3] Thirdly, the showed that 345 patients underwent isolated liver transplant. The study should mention immunosuppression details in these patients as they are known to preserve renal function. The literature mentions early introduction of mechanistic target of rapamycin (mTOR) inhibitors. [4] Lastly, the study does not mention the growth and development of the Alagille patients as previous literature shows growth problems do not improve in these patients even after successful liver transplantation. [5]