Published: 23 Jun 2025
Clinical Diversity and Outcomes of Progressive Familial Intrahepatic Cholestasis Diagnosed by Whole Genome Sequencing in Pakistani Children
Volume 2
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Huma Arshad Cheema
pedgilahore@gmail.com
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Aliaksandr Skrahin
aliaksandr.skrahin@rcv-biotech.com
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Anjum Saeed
dranjumsaeed@chich.edu.pk
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Zafar Fayyaz
zafarfayyaz225@gmail.com -
Muhammad Arshad Alvi
alviarsh@gmail.com
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Muhammad Nadeem Anjum
nadeemanjum1900@yahoo.com -
Nadia Waheed
drnadiasalman@gmail.com
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Khalil Ur Rehman
khalil@twchp.com
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Ahmad Malik
ahmad.malik@rcv-biotech.com
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Volha Skrahina
volha.skrahina@rcv-biotech.com
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Arndt Rolfs
arndt.rolfs@rcv-biotech.com
Progressive familial intrahepatic cholestasis (PFIC) is a rare group of genetic disorders that typically presents in infants and children, often progressing to end-stage liver disease. We used whole genome sequencing (WGS) for diagnosis to assess phenotypic features and outcomes in Pakistani children with different types of PFIC. The study included 116 pediatric participants with five PFIC types: PFIC1, ATP8B1 gene (n = 19); PFIC2, ABCB11 (n = 28); PFIC3, ABCB4..