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Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
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[Progressive familial intrahepatic cholestasis presenting as liver failure]
A Sangorrin Iranzo1, M Iriondo Sanz, L Alvarez García
1Servicio de Neonatología, Hospital Sant Joan de Déu, Barcelona, España. asangorrin@hsjdbcn.org
Anales De Pediatria (Barcelona, Spain : 2003)
|October 9, 2009
Summary
Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic liver disease. This case report details a neonate with PFIC type 2 presenting as liver failure, highlighting diagnostic and management challenges.
Area of Science:
- Hepatology
- Pediatric Gastroenterology
- Medical Genetics
Background:
- Progressive familial intrahepatic cholestasis (PFIC) comprises inherited cholestatic liver diseases.
- PFIC presents in infancy or early childhood with symptoms like jaundice and pruritus.
- Genetic mutations affect bile flow, leading to liver fibrosis and failure.
Observation:
- A neonate presented with severe liver failure.
- The clinical presentation was consistent with PFIC type 2.
- Diagnostic workup included biochemical and histological assessments.
Findings:
- PFIC type 2 was diagnosed in the neonate.
- Biochemical markers, including gamma-glutamyl transpeptidase levels, aided in diagnosis.
- The patient's presentation underscored the severity of PFIC in early life.
Implications:
- Early diagnosis and intervention are crucial for managing PFIC.
- Liver transplantation remains a key treatment for end-stage liver disease in PFIC.
- This case highlights the importance of recognizing PFIC in neonates with liver failure.
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