• Users Online: 1106
  • Print this page
  • Email this page
Year : 2021  |  Volume : 15  |  Issue : 2  |  Page : 176-180

Progressive familial CD10 deficient ductopenic disorder; Hitherto an unnamed entity! - A case report

1 Department of Histopathology, SRL Ltd., Fortis Escorts Heart Institute, New Delhi, India
2 Department of Hepatology, SRL Ltd., Fortis Escorts Heart Institute, New Delhi, India
3 Department of Liver Transplant Surgery, SRL Ltd., Fortis Escorts Heart Institute, New Delhi, India

Correspondence Address:
Dr. Nalini Bansal
Department of Histopathology, SRL Ltd., Fortis Escorts Heart Institute, Okhla, New Delhi - 110 025
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijot.ijot_29_20

Rights and Permissions

Inherited liver disorders are group of genetic diseases that cause early liver involvement many of them progressing to early cirrhosis. Of the familial cholestatic disorders most widely studied are progressive familial intrahepatic cholestatic disorders. These disorders are caused by defects in enzymes involved with the formation and excretion of bile constituents. They are, however, not associated with ductopenia. We herein report the first case of a familial cholestatic disorder in three female siblings resident of Lahore, Pakistan presenting as chronic cholestasis all progressing to cirrhosis before 10 years of age. The first two female siblings underwent liver transplants for chronic cholestasis. The third sibling underwent liver biopsy for the evaluation of cholestasis and later liver transplant for same. There are no other associated cardiac or skeletal anomalies in any of the sisters. The findings of biopsy and explant tissue were similar in all three sibling sisters. There are features of advanced fibrosis, significant ductopenia, bile ductular reaction at the porto-parenchymal interface, cholestasis, increased copper stores on rhodanine stain no loss of bile salt export pump, and multi-drug resistant 3 protein (MDR3), and the absence of CD10 from canaliculi. The findings raised differentials for progressive familial intrahepatic cholestasis (PFIC) type 3, Alagille syndrome, and variant of familial cholestatic disorder. PFIC 3 causes cholestasis, but the presence of MDR3 stain, ductopenia, and deficient CD10 are not seen in PFIC 3. Familial ductopenic disorders have been identified in the adult population called as idiopathic adulthood ductopenia and had autosomal dominant pattern of inheritance. The argument against Alagille syndrome is the absence of any other syndromic features of Alagille and autosomal recessive mode of inheritance. These findings led us to conclude if there is a need to redefine a new entity of progressive familial CD10 deficient ductopenic disorder. The findings though limited by genetic studies give way for further research on the subject.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded61    
    Comments [Add]    

Recommend this journal