Combined Mutations of Canalicular Transporter Proteins Causing Low Phospholipid-Associated Cholelithiasis and Transient Neonatal Cholestasis in an Infant

JPGN Reports · 3 authors, 2 centres

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TL;DR

This is a case report of a 3-month-old infant with transient neonatal cholestasis and gallstones, found to have heterozygous mutations in both the ABCB4 and ABCB11 genes. Treatment with ursodeoxycholic acid led to resolution of the cholestasis and gallstones.

Full summary

791 CHARS

This case report describes a 3-month-old male infant presenting with jaundice since birth, conjugated hyperbilirubinemia, elevated liver enzymes, and gallstones on ultrasound. Genetic testing revealed heterozygous pathogenic mutations in ABCB4 (c.1769G>A, p.Arg590Gln) and ABCB11 (c.1772A>G, p.Asn591Ser). The infant was treated with ursodeoxycholic acid (UDCA). Follow-up at 6 months showed resolution of jaundice, improved liver enzymes, and disappearance of gallstones. The report highlights that combined mutations in canalicular transporter proteins can cause both transient neonatal cholestasis and low phospholipid-associated cholelithiasis in infancy, a rare presentation. Limitations include the short follow-up duration and the inability to perform genetic analysis on the parents.

STUDY TYPE

case_report

SPECIALTY

pediatrics

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ORIGINAL PAPER

PMC10191594

Combined Mutations of Canalicular Transporter Proteins Causing Low Phospholipid-Associated Cholelithiasis and Transient Neonatal Cholestasis in an Infant

JPGN Reports

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ABSTRACT

Low phospholipid-associated cholelithiasis syndrome is characterized by the development of cholelithiasis in early adulthood (<40 years of age) but is rarely diagnosed in childhood. It is associated with gene sequence variants in the ABCB4 gene encoding the multidrug resistance protein 3 which are mostly heterozygous. Transient neonatal cholestasis has been reported with heterozygous mutations in both ABCB4 and ABCB11 (Bile Salt Exporter Protein). We report a 3-month-old male with cholelithiasis and transient neonatal cholestasis in the setting of combined pathogenic heterozygous mutations in the genes ABCB4 and ABCB11. Initiation of ursodeoxycholic acid therapy led to a resolution of the cholestasis and gall stones. Our case highlights the complex nature of the genetics of cholestatic disorders.

CITATION EXPORT

Radhapyari Lourembam,, Rohan Malik,, Rishi Bolia. Combined Mutations of Canalicular Transporter Proteins Causing Low Phospholipid-Associated Cholelithiasis and Transient Neonatal Cholestasis in an Infant. JPGN Reports. (2021). https://doi.org/10.1097/PG9.0000000000000080

AUTHORS

3 · 2 CENTRES

Radhapyari Lourembam,, Rohan Malik,, Rishi Bolia

From the *Division of Pediatric Gastroenterology, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, India
†Division of Pediatric Gastroenterology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.