Joanna Pawłowska

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BACKGROUND & AIMS Patients with severe bile salt export pump (BSEP) deficiency present as infants with progressive cholestatic liver disease. We characterized mutations of ABCB11 (encoding BSEP) in such patients and correlated genotypes with residual protein detection and risk of malignancy. METHODS Patients with intrahepatic cholestasis suggestive of(More)
Progressive intrahepatic familial cholestasis (PFIC), previously called Byler's disease, is a syndrome in which children develop severe cholestasis progressing to biliary cirrhosis and chronic liver failure, usually during the first decade of life. Clinical features include jaundice, hepatomegaly, splenomegaly, growth retardation and severe pruritus.(More)
AIMS Progressive familial intrahepatic cholestasis (PFIC, Byler's disease) is an autosomal recessive disorder resulting in liver fibrosis/cirrhosis and liver insufficiency. Before the 1990s, liver transplantation was the only effective therapy for these children. During the last 12 years, two alternative methods of surgical treatment have been proposed:(More)
OBJECTIVES Study was performed to evaluate prospectively long-term renal function in pediatric liver transplant recipients. METHODS In 50 children aged 1-18 years, renal function tests (sCr, GFR, ERPF, Cr clearance, renal Doppler ultrasound, ABPM) have been performed before and several times during 36 months follow-up after liver transplantation. (More)
FLF is a life-threatening disease. Hepatic coma exerts dramatic impact on patient survival. At present, LTx is the treatment modality of choice that provides significant improvement in outcome of most patients with FLF. Multiple attempts have been made to reduce mortality and improve the patient's condition. One of the new options is AD - MARS. We present(More)
Hepatocellular carcinoma (HCC) is rare in young children. We attempted to see if immunohistochemical and mutational-analysis studies could demonstrate that deficiency of the canalicular bile acid transporter bile salt export pump (BSEP) and mutation in ABCB11, encoding BSEP, underlay progressive familial intrahepatic cholestasis (PFIC)--or "neonatal(More)
Transaldolase (TALDO) deficiency is a recently described inborn error of metabolism of the pentose phosphate pathway that so far has been diagnosed in only eight patients. In this article, we report the clinical course and biochemical findings of two newly identified patients with TALDO deficiency-two sons of consanguineous parents from Polish origin,(More)
Early diagnosis is vital in the neonatal cholestasis. The aim of this study was to assess the usefulness of hepatobiliary scanning in the diagnosis of biliary atresia. 33 hepatobiliary scannings performed in 30 children with cholestasis over the last two years were analysed. The mean age at the diagnosis was 6.6 weeks. The investigation was carried out with(More)
Organ transplantation is a risk factor for atherogenesis that may be related to immunosuppressive therapy. Increased free radical generation may even aggravate atherogenesis. The aim of the study was to assess lipid metabolism in relation to risk factors for atherogenesis as well as carbohydrate metabolism and antioxidant status among children after liver(More)
BACKGROUND Epstein-Barr virus (EBV) is associated with most cases of the post-transplant lymphoproliferative disorders developed during the first year after transplantation. The high EBV DNA load constitutes a major risk for the development of EBV-related lymphoproliferations. However, among transplant recipients there are patients with a chronically high(More)