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. 2025 Oct 1;123(5):e202410579.
doi: 10.5546/aap.2024-10579.eng. Epub 2025 May 8.

Genetic cholestasis: Clinical and laboratory features

[Article in English, Spanish]
Mirta Ciocca  1 , Fernando Álvarez  2
Affiliations
Free article

Genetic cholestasis: Clinical and laboratory features

[Article in English, Spanish]
Mirta Ciocca et al. Arch Argent Pediatr. .
Free article

Abstract
in English, Spanish

In recent years, access to high-performance genetic techniques has allowed new diagnoses to become evident, allowing us to say today that genetic causes represent more than one-third of the etiologies of cholestasis in newborns and infants. When faced with a pediatric patient with cholestasis, with similar clinical and biochemical findings, an early genetic diagnosis will facilitate specific treatment, delay or exclude invasive diagnostic procedures (for example, liver biopsy), and offer genetic counseling to the family. We recently published a classification of genetic cholestasis, considering how the molecular defect affects biliary secretion. In this opportunity, we briefly summarize each of them to facilitate their identification by the pediatrician, who is the first professional to detect them and promptly refer them to a high-complexity center.

En los últimos años, el acceso a técnicas genéticas de alto rendimiento permitió poner en evidencia nuevos diagnósticos, autorizándonos hoy a decir que las causas genéticas representan, en su conjunto, más de un tercio de las etiologías de colestasis en el recién nacido y lactante. Ante un paciente pediátrico con colestasis, con hallazgos clínicos y bioquímicos semejantes, un diagnóstico genético temprano va a facilitar un tratamiento específico, demorar o excluir procedimientos diagnósticos invasivos (por ejemplo, una biopsia hepática) y ofrecer el consejo genético a la familia. Recientemente, hemos publicado una clasificación de las colestasis genéticas, considerando cómo el defecto molecular afecta la secreción biliar. En esta oportunidad, decidimos resumir brevemente cada una de ellas, para facilitar su identificación por el pediatra, el cual representa el primer profesional capaz de detectarlas y realizar la derivación oportuna a un centro de alta complejidad.

Keywords: cholestasis; cirrhosis.; clinical course; diagnosis; genetics; testing.

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