title: Liver Transplantation After Bone Marrow Transplantation for End Stage Liver Disease with Severe Hepatopulmonary Syndrome in Dyskeratosis Congenita: A Literature First.
abstract: Dyskeratosis congenita is a multisystem genetic disorder. Although hepatic involvement is reported in about 7% of patients with dyskeratosis congenita, it is not well characterized and often attributed to hemochromatosis from frequent blood transfusions. A few case reports describe cirrhosis and hepatic cell necrosis in affected individuals in autosomal dominant pedigrees. Bone marrow failure and malignancies are the principal causes of death in dyskeratosis congenita. We describe the first case of living donor liver transplantation, in dyskeratosis congenita for decompensated cirrhosis with portal hypertension. The patient also had associated severe hepatopulmonary syndrome, interstitial lung disease, bilateral hip replacement for avascular necrosis of the head of femur, and a past history of bone marrow transplantation for bone marrow failure.
authors.affiliation: Liver Transplantation & HPB Surgery, Institute of Liver & Biliary Sciences, New Delhi, India.
authors.forename: Shyam Sunder
authors.initials: SS
authors.lastname: Mahansaria
authors.affiliation: Liver Transplantation & HPB Surgery, Institute of Liver & Biliary Sciences, New Delhi, India.
authors.forename: Senthil
authors.initials: S
authors.lastname: Kumar
authors.affiliation: Liver Transplantation & HPB Surgery, Institute of Liver & Biliary Sciences, New Delhi, India.
authors.forename: Kishore G S
authors.initials: KG
authors.lastname: Bharathy
authors.affiliation: Department of Pulmonary Medicine, Institute of Liver & Biliary Sciences, New Delhi, India.
authors.forename: Sachin
authors.initials: S
authors.lastname: Kumar
authors.affiliation: Liver Transplantation & HPB Surgery, Institute of Liver & Biliary Sciences, New Delhi, India.
authors.forename: Viniyendra
authors.initials: V
authors.lastname: Pamecha
keywords: BMF, bone marrow failure; DKC, dyskeratosis congenita; HPS, hepatopulmonary syndrome; LDLT, living donor liver transplantation; MAA, microaggregated albumin scan; PHT, portal hypertension; SCE, saline contrast echocardiography; chronic liver disease; dyskeratosis congenita; hepatopulmonary syndrome; liver transplantation; microaggregated albumin scan