A New Variant of an Old Itch: Novel Missense Variant in ABCB4 Presenting with Intractable Pruritus
- Resource Type
- Authors
- Apurva Pande; Rajiv Lochan; Malikarjun Sakpal; Karthik K. Raichurkar; Thenral S. Geetha; Sonal Asthana; Sahana Shankar
- Source
- J Clin Exp Hepatol
- Subject
- medicine.medical_specialty
Hepatology
business.industry
medicine.medical_treatment
Progressive familial intrahepatic cholestasis
Case Report
ABCB4
Liver transplantation
New variant
medicine.disease
Gastroenterology
Phenotype
03 medical and health sciences
0302 clinical medicine
030220 oncology & carcinogenesis
Internal medicine
medicine
Missense mutation
030211 gastroenterology & hepatology
Family history
business
- Language
- English
We report a novel homozygous missense variant in ABCB4 gene in a Yemeni child born to consanguineous parents, with a significant family history of liver disease-related deaths, resulting in a progressive familial intrahepatic cholestasis (PFIC) type 3 phenotype requiring liver transplantation for intractable pruritus.