Bone fractures in children with chronic cholestasis

Area of Science:

• Pediatric Hepatology
• Pediatric Endocrinology
• Pediatric Radiology

Background:

• Chronic cholestasis in children can lead to severe health complications.
• Bone fractures are a significant concern in end-stage liver disease.
• Alagille syndrome and biliary atresia are common causes of chronic cholestasis.

Purpose of the Study:

• To describe clinical, biochemical, and radiological features of bone lesions in children with chronic cholestasis.
• To investigate the association between chronic cholestasis, liver disease, and fractures.
• To evaluate treatment outcomes for bone lesions in this cohort.

Main Methods:

• Case series describing four children with fractures and chronic cholestasis.
• Clinical assessment, biochemical analysis (calcium, phosphate, PTH), and radiographic bone surveys.
• Liver histology review for underlying liver disease.

Main Results:

• Two patients had Alagille syndrome, two had biliary atresia.
• Fractures occurred in arms, forearms, and wrists, often with generalized osteopenia.
• One patient presented with rickets and hypocalcemia/hypophosphatemia; others had varied electrolyte and parathyroid hormone levels.
• Bone lesions worsened despite treatment in most cases, except the one with rickets.
• All patients eventually died.

Conclusions:

• The pathogenesis of bone lesions in end-stage chronic cholestatic liver disease remains unclear.
• Rickets can be a complicating factor, highlighting the need for vigilance.
• Long-term vitamin D and calcium supplementation is crucial for fracture prevention in children with chronic cholestasis.