Combination of Novel c.3484G > T/p.Glu162Ter Variant in ABCB11 and c.208G > A/p.Asp70Asn Variant in ATP8B1 Are Associated with Severe Symptoms in Progressive Family Intrahepatic Cholestasis
Yükleniyor...
Dosyalar
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Georg Thieme Verlag Kg
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Progressive family intrahepatic cholestasis (PFIC) is an autosomal recessive disease that causes chronic cholestasis. It is associated with pathogenic variants in genes that encode proteins involved in bile secretion to canaliculus from hepatocytes. In this study, we present a 16-year-old boy who presented with severe pruritus and cholestatic jaundice. All possible infectious etiologies were negative. A liver biopsy was consistent with intrahepatic cholestasis and portal fibrosis. DNA was isolated from a peripheral blood sample, and whole exome sequencing was performed. A novel c.3484G > T/p.Glu162Ter variant in theABCB11gene and a c.208G> A/p.Asp70Asn variant in theATP8B1gene were detected. Despite traditional treatment, the patient's recurrent severe symptoms did not improve. The patient was referred for a liver transplantation. This novel c.3484G > T/p.Glu162Ter variant is associated with a severe and recurrent presentation, and the two compound variants could explain the severity of PFIC.
Açıklama
Anahtar Kelimeler
progressive family intrahepatic cholestasis, chronic cholestasis, ABCB11gene, mutation, childhood, Deficiency
Kaynak
Journal Of Pediatric Genetics
WoS Q DeÄŸeri
N/A
Scopus Q DeÄŸeri
Cilt
9
Sayı
4
