12-year-old girl, only child of healthy, non-consanguineous parents. There is no personal or family history of interest. In the clinical examination to start a sports activity, you find a discrete hepatomegaly of normal consistency, so you request a blood test, which highlights an ASAT of 80U / l, ALAT 105 U / l, electrophoretic proteinogram with all protein fractions in normal range and negativity of serology for hepatotropic viruses. What should you rule out and what test would you indicate for it?
In fact, I would not test this patient at this time, and I would check if the transaminase level has normalized at a later time, since the most frequent cause, at least in children, is a transient elevation in the context of viral diseases (most frequently cytomegalovirus and Epstein-Barr virus). The minimal elevation of liver enzymes and the fact that it has a normal protein profile goes against chronicity... If I had to choose I would choose answer 5, which seems to me the least aggressive, and if I had to do analytical tests I would add the determination of alpha-1-antitrypsin (without CT) and markers of celiac disease, because celiac disease can also be associated with some hypertransaminemia.
Deficiency of alpha 1 antitrypsin. Thoracic TAC to confirm emphysema.
Mucoviscidosis. Determination of chlorine in sweat.
Autoimmune hepatitis. Liver biopsy.
Glycogenosis type VI (phosphorylase deficiency). Muscle biopsy.
Wilson's disease. Determine ceruloplasmin and copper in blood and urine.