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Combined Mutations of Canalicular Transporter Proteins Causing Low Phospholipid-Associated Cholelithiasis and

Radhapyari Lourembam1, Rohan Malik2, Rishi Bolia1

  • 1From the Division of Pediatric Gastroenterology, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, India.

JPGN Reports
|May 19, 2023
PubMed

Insights

Low phospholipid-associated cholelithiasis syndrome, typically seen in adults, was diagnosed in a 3-month-old infant. Combined ABCB4 and ABCB11 gene mutations caused gallstones and cholestasis, resolved by ursodeoxycholic acid.

Area of Science:

  • Genetics
  • Pediatric Gastroenterology
  • Hepatology

Background:

  • Low phospholipid-associated cholelithiasis syndrome (LPLAC) is characterized by gallstone formation, typically diagnosed in early adulthood.
  • Genetic variants in the ABCB4 gene are commonly associated with LPLAC, usually in a heterozygous state.
  • Transient neonatal cholestasis has been linked to heterozygous mutations in ABCB4 and ABCB11 genes.

Observation:

  • A 3-month-old male infant presented with cholelithiasis (gallstones) and transient neonatal cholestasis.
  • The infant carried combined pathogenic heterozygous mutations in both the ABCB4 and ABCB11 genes.

Findings:

  • This case represents a rare pediatric diagnosis of cholelithiasis associated with combined heterozygous mutations in ABCB4 and ABCB11.
  • Ursodeoxycholic acid therapy was initiated for the infant.
  • Treatment with ursodeoxycholic acid resulted in the resolution of both cholestasis and gallstones.

Implications:

  • This case underscores the complex genetic underpinnings of cholestatic liver disorders in infants.
  • It highlights the potential role of combined ABCB4 and ABCB11 mutations in pediatric cholestasis and cholelithiasis.
  • Early diagnosis and targeted therapy, such as ursodeoxycholic acid, can effectively manage these rare conditions.

Keywords:
BSEPMDR3progressive familial intrahepatic cholestasis

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