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It is related to all diseases of gastrointestinal and hepatobiliary origin, which must be evaluated by multidisciplinary groups. Who, thanks to their clinical experience, can quickly carry out the diagnosis, treatment and follow-up of these pathologies, in order to offer the best clinical approach to both the pediatric and adult population.

Target: Most cases occur between the ages of 5 and 35. 3% can present beyond the fourth decade

What is it?

Wilson’s disease is a hereditary disorder characterized by a deficient biliary excretion of copper, producing its accumulation in the liver, brain (basal nuclei) and corneal, mainly. What causes a multiple clinical presentation.

It is caused by mutations in the ATP7B gene on chromosome 13, which encodes a type B copper transporter located in the trans Golgi network of hepatocytes, through autosomal recessive inheritance.

Wilson’s disease is not just a disease of children or young adults, it can occur at any age. The prevalence of the disease is 1 per 30,000 individuals. Most cases occur between the ages of 5 and 35. 3% can present beyond the fourth decade.


Its presentation can vary greatly from patient to patient, presenting from neurological and hepatic symptoms, to psychiatric, but a large proportion present a clinical sign called: Kayser Fleischer’s sign, which, although not pathognomonic, does help suspect Wilson’s disease .

How is the diagnosis made?

Its diagnosis requires the sum of various signs and symptoms, and paraclinical findings, which would yield a sufficient score to rule out or confirm the disease, known as the Lipzing scoring system.

What is the treatment?

Wilson’s disease includes the use of a chelator, where the use of trientine is indicated for the treatment of the disease, also taking into account that according to the EASL Clinical Practice Guidelines, trientine would be better tolerated than other medications that could also be use.

Target: Babies

What is it?

Deficiencies in the synthesis of primary bile acids are disorders in sterol metabolism secondary to deficiencies in one of the enzymes that participate in these processes, leading to the presentation of cholestasis, malabsorption, and can progress to cirrhosis, with subsequent insufficiency. hepatocellular and liver failure. They are diseases of autosomal recessive inheritance and given their very low prevalence they are considered ultra-orphan diseases. (1)

What types of deficiencies are there?

There are seven hereditary defects that cause hepatic cholestasis, among which the most frequent in their presentation are 3beta-hydroxy-D5-C27-steroid dehydrogenase/isomerase (3b-HSD) deficiency and Delta4–3-oxsteroid deficiency -5beta-reductase (D4–3-oxoR), which interfere in the initial phases of bile acid synthesis by modifying the steroid nucleus of cholesterol. (1.2)

When to suspect?

This type of deficiency should be suspected with some signs that are nonspecific but can guide the diagnosis, such as: cholestasis and/or hepatocellular insufficiency from the first years of life, with subsequent jaundice (yellow discoloration of the mucous membranes) with the absence of pruritus, malabsorption syndrome, normal GGT test, among other parameters; however, it should be noted that the confirmatory test for these diseases to make the definitive diagnosis is performed through the analysis of serum and urine bile acids with gas chromatography with mass spectrometry (GC-MS) for the analysis of toxic metabolites . (1.2)


  • Setchell KDR and Heubi JE. Defects in Bile Acid Biosynthesis, Diagnostic and Treatment. J Pediatr Gastroenterol Nutr,2006; Vol. 43 (1) 17- 22.
  • Jahnel J, Zöhrer E, Fischler B, D’Antiga L, Debray D, Dezsofi A, et al. Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey. JPGN 2017;64 (6): 864–868.