Joanna Pawłowska

Children's Memorial Health Institute | IPCZD · Department of Gastroenterology

Background Pediatric acute liver failure (PALF) is one of the most demanding emergencies in hepatology, intensive care, and for transplant team. This report describes the clinical pattern, diagnostic and therapeutic modalities in children with ALF considered at risk of death without liver transplantation, basing on a long‐term experience of the ped...

Background and aim: Gene defects contribute to the aetiology of intrahepatic cholestasis. We aimed to explore the outcome of whole-exome sequencing (WES) in a cohort of 51 patients with this diagnosis. Patients and methods: Both paediatric (n = 33) and adult (n = 18) patients with cholestatic liver disease of unknown aetiology were eligible. WES...

Aim of the study: The treatment of autoimmune hepatitis (AIH) is based on steroids and azathioprine (AZA). AZA is a pro-drug which is converted among others into 6-thioguanine (6-TG) and 6-methylmercaptopurine (6-MMP). The aim of the study was to determine the relationship between the AZA active metabolite 6-TG and both the biochemical and histolo...

Introduction: The increasing usage of NGS technology has enabled the discovery of new causal genes in ciliopathies, including the DCDC2 gene. The aim of our study was to present the clinical, pathological and molecular report of six patients (from three unrelated families) with DCDC2 biallelic pathogenic variants. A detailed overview of the report...

The pathogenesis of biliary atresia (BA) is still not clear. The aim of this study was to evaluate the expression of selected immunological parameters in liver tissue in BA children based on CMV/EBV infection status. Eight of thirty-one children with newly diagnosed BA were included in this prospective study and assigned to two groups (I with activ...

Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a rare ciliopathy clinically characterized by congenital craniofacial, skeletal, and ectodermal defects. Chronic kidney and liver insufficiency are also present in this disorder. Cranioectodermal dysplasia is an autosomal recessive and heterogeneous genetic disease. Six gene...

Transaldolase deficiency (TALDO; OMIM 606003) is a rare inborn autosomal-recessive error of the pentose phosphate pathway. It is an early-onset multisystem disease with dysmorphic features, anaemia, coagulopathy, thrombocytopenia, tubulopathy, hepatosplenomegaly and end-stage liver disease. We present a case of two Polish brothers, born to consangu...

Case series Patients: Male • Male / (siblings) Final Diagnosis: Progressive intrahepatic familial cholestasis type 1 (PFIC-1) Symptoms: Jaundice Medication: — Clinical Procedure: — Specialty: Transplantology Objective Unusual clinical course Background Current treatment options for progressive intrahepatic familial cholestasis type 1 (PFIC-1) com...

Background: Functioning farnesoid X receptor (FXR; encoded by NR1H4) is key to normal bile acid homeostasis. Biallelic mutations in NR1H4 are reported in a few children with intrahepatic cholestasis. We describe a boy with progressive familial intrahepatic cholestasis and homozygous mutation in NR1H4. Case summary: A boy had severe neonatal chol...

The aim of our paper was to present current knowledge, review literature and available practice guidelines of international hepatological associations regarding the effect of severe acute respiratory syndrome coronavirus 2 coronavirus on the liver, patients with underline liver disease, awaiting on liver transplantation (LTx) or being after LTx in...

Introduction and Objectives Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a rare autosomal recessive cholestatic liver disorder caused by mutations in the ABCB4 gene. The aim of this study was to present the phenotypic and genotypic spectrum of 4 Polish PFIC-3 patients diagnosed in a one-referral centre. Materials and Methods Th...

Aim of the study: To assess ductular proliferation (DP) and ductal plate malformation (DPM) in biliary atresia (BA) by means of immunohistochemical staining using cytokeratins CK7 and CK19 and neural cell adhesion molecule (NCAM) antibody CD56. Material and methods: In 10 cases of BA, liver surgical biopsies obtained at the time of hepatoportoen...

Background Primary sclerosing cholangitis (PSC) and autoimmune sclerosing cholangitis (ASC) are often associated with ulcerative colitis (UC). The impact on the course of UC remains unclear, and up-to-date evidence in pediatric populations is scarce. The aim of the study was to analyze the course of UC in pediatric patients transplanted owing to PS...

Objective: To evaluate the clinical utility of panel-based NGS in the diagnostic approach of monogenic cholestatic liver diseases. Study design: Patients with diagnosis of chronic cholestatic liver disease of an unknown etiology underwent NGS of targeted genes panel. Group 1 included five patients (prospectively recruited) hospitalized from January...

Background Deoxyguanosine kinase (DGUOK) deficiency is one of the causes of the hepatocerebral form of mitochondrial depletion syndrome (MDS). It is characterized by an early onset of liver failure with concomitant neurological deterioration. In the current literature, there are only few reports regarding long-term observation of children with DGUO...

We present a case of fatal liver failure secondary to previously unrecognised dilated cardiomyopathy in a 17-year-old boy with Duchenne muscular dystrophy (DMD). Acute liver failure in the clinical course of decompensated dilated cardiomyopathy in patients with DMD is rare and carries a high mortality rate. Severe congestive heart failure should al...

Aim: This study assessed correlations between systemic disturbances of paediatric chronic liver diseases (CLD) and oral symptoms in subjects aged 2-18 years. Methods: It was carried out during outpatient appointments at the Children's Memorial Health Institute, Warsaw, Poland, from 2010-2015 and comprised 52 CLD patients with a mean age of 12.3...

Pediatric liver transplantation has changed the poor prognosis for children with liver failure, some metabolic diseases and liver tumors. With the increase of survival, long-term maintenance has become a priority. Therefore, obtaining appropriate nutrition, physical growth, bone metabolism, endocrine function and psychosocial development has become...

Background and aim: The concentration of bile acids is highly increased in progressive familial intrahepatic cholestasis (PFIC). Bile acids are the end products of cholesterol metabolism, and aid in the absorption of fat-soluble vitamins and dietary fat. The aim of our study was to investigate lipid metabolism in PFIC patients with focus on the ef...

Liver injury such as hepatomegaly, splenomegaly and various degrees of biochemical abnormalities are quite common in children with collagen vascular diseases. They may be primary or secondary, particularly due to drug therapy (drug toxicity, fatty infiltration), superadded infections, diabetes or overlap with autoimmune hepatitis.

Results: Survival with native liver estimates after 2, 5 and 10 years in patients after successful operation were 96%, 91%, 75% vs. 30%, 11%, and 5% if operation failed (p < 0.001). There was no difference between groups in the following variables: fibrosis (p = 0.69), portal inflammation (p = 0.99), lobular inflammation (p = 0.95), cholangiolitis...

BACKGROUND Post-transplant lymphoproliferative disorder (PTLD) is a potential complication of solid organ or bone marrow transplants. The main PTLD risk factors are: the Epstein-Barr virus (EBV), transplant type, and use of immunosuppressants. It mainly consists of an uncontrolled growth of lymphocytes in transplant recipients under chronic immunos...

The risk of oxidative stress in liver transplant population is multifactorial and results mainly from preexisting liver issues, ischemia–reperfusion injury, immunosuppressive regimens, and posttransplant complications. Generation of reactive oxygen species may be increased in marginal grafts, which are used more frequently so as to extend the donor...

Background: Calcineurin inhibitors (CNI) may increase the risk of cardiovascular (CV) events. This prospective study aimed to determine cardiovascular risk factors in pediatric patients after living related liver transplantation (LRLTx) 12 months after the conversion from cyclosporine (CS) to tacrolimus (TAC). Material/methods: The study group c...

Background & aims: To date, no studies concerning the presence of small intestinal bacterial overgrowth in patients with progressive familial intrahepatic cholestasis were published. Based upon characteristic of progressive familial intrahepatic cholestasis one can expect the coexistence of small intestinal bacterial overgrowth. The aim of the stu...

Introduction: People with cirrhosis of the liver are predisposed to developing oral lesions. The occurrence and type of lesion depend on the degree of liver function impairment and its type, and on the severity and duration of systemic diseases. In children, the age at which the early symptoms of liver disease are experienced is also of great impo...

Children with progressive familial intrahepatic cholestasis (PFIC) rarely benefit from medical treatment and most patients require surgical intervention. Partial external biliary diversion (PEBD) is presently the treatment of choice but for those who cannot benefit from PEBD, an alternative surgical procedure-ileal exclusion (IE)-was introduced. Th...

Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive liver disorder characterized by recurrent episodes of jaundice and itching. Episodes of cholestasis last variously from 1 week to several months, may start at any age, and usually resolve spontaneously. No effective treatment has been found as yet. We report a case of geneti...

Available data on prevalence of HCV genotypes in Poland are insufficient. The aim of the study was the analysis of distribution of HCV genotypes in Poland over the period of recent 10 years regarding the age of patients and the regions of the country. Analysis of HCV genotypes in Poland was carried out between 2003 and 2012, and included 14 651 pat...

Peroxisomes play an essential role in mammalian cellular metabolism, particularly in oxidation fatty acid pathways. Serum very long-chain fatty acids (VLCFA), the main biochemical diagnostic parameters for peroxisomal disorders, were examined in 25 neurological patients with epilepsy on a ketogenic diet and 27 patients with liver dysfunction. The d...

Background: Systemic complications in patients after renal or liver transplantation may be localized in the oral cavity. Calcium-phosphate disturbances may affect the structure and metabolism of mandible bones, promote calcification of dental pulp, and in children may cause developmental defects of teeth. The aim of this study was to evaluate the...

Lipid disturbances are one of the most frequent side effects of SRL; however, clinical consequences are not known. The aim of the study was to evaluate the risk of AS in children after LTx treated with SRL. In 17 children with median age 13.2 yr (1.9-17.9) who received SRL on average for 4.1 yr (s.d. ± 2.9) we measured and compared with age-matched...

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 vir...

Amoxicillin/clavulanic acid-induced liver injury is a well recognized complication. Presentation and outcome may vary, which is related to individual liver maturity, genetic predisposition, enzyme heterogeneity, intensity of treatment, and drug interactions. In most cases withdrawing the drug is sufficient treatment; however, cases of progressive l...

The primary hyperoxaluria type 1 (PH1) is an autosomal recessive, inherited disease caused by a defect in glyoxylate metabolism. PH1 is characterized by excessive production and urinary excretion of oxalate that lead to renal and systemic damage through the deposition of oxalate crystals into tissues. Although some patients may benefit from aggress...

Autosomal recessive polycystic kidney disease is a rare disorder characterized by cystic dilatations of renal collecting ducts and hepatic abnormalities. Kidney involvement may lead to respiratory insufficiency in newborns, systemic hypertension and renal failure demanding renal replacement therapy (dialysis/transplantation). In this paper we would...

Immunosuppressed pediatric transplant recipients are at risk of developing Epstein-Barr virus (EBV)-associated complications (such as post-transplant lymphoproliferative disorders). Monitoring of the EBV DNA level in blood alone has a low predictive value for the post-transplant course of EBV infection and its complications. Therefore, additional p...

Czubkowski P, Pawłowska J, Jankowska I, Teisseyre M, Kamińska D, Markiewicz M, Ryżko J. Successful sirolimus rescue in tacrolimus‐induced thrombotic microangiopathy after living‐related liver transplantation. Pediatr Transplantation 2011: 00: 000–000. © 2011 John Wiley & Sons A/S. Abstract: TMA is a rare complication of tacrolimus. Disruption of en...

Introduction: Chronic liver disease (CLD) in children and adolescents is usually an outcome of a long-term cholestasis, or a factor producing a direct hepatocellular damage. Chronic liver disease results in the organ failure and a wide variety of systemic complications. Occasionally, they are accompanied by jaundice and also adversely affect the or...

B. Kasztelewicz, I. Jankowska, J. Pawłowska, J. Teisseyre, R. Grenda, M. Pronicki, K. Dzierżanowska-Fangrat. Epstein–Barr virus DNA load in peripheral blood mononuclear cells and whole blood from pediatric transplant recipients. Transpl Infect Dis 2011: 13: 471–479. All rights reserved Abstract: Monitoring of circulating Epstein–Barr virus (EBV) DN...

Background: Benign recurrent intrahepatic cholestasis (BRIC) is a rare, autosomal recessive disorder presenting as recurrent bouts of cholestasis with severe pruritus (occasionally resistant to standard pharmacotherapy). Case Report: We present two cases of genetically confirmed BRIC, effectively treated with albumin dialysis. Conclusions: Extracor...

High prevalence of elevated serum pancreatic enzymes in children with cholestasis with normal fecal elastase-1 concentrations has been documented. However, this state is related predominantly to biliary atresia. Therefore, we aimed to assess pancreatic damage by measuring serum pancreatic enzymes in patients with progressive familial intrahepatic c...

There are several liver lesions, most of the choleststic that have genetic beckground. In recent years several genes that are mutated in hereditary forms of intrahepatic cholestasis have been identified and mapped. Authors present several causes of hereditary intrahepatic cholestasis.

Backgroud: Liver transplantation (LTx) is the optimal treatment for patients with end-stage liver disease due to cholestatic liver diseases as autoimmune hepatitis (AIH), and primary sclerosing cholangitis (PSC) with a 80-90% patients survival after LTx at 5 years. However several series have reported that AIH and PSC may recur after liver transpla...

Background: Extraintestinal manifestations in pediatric patients with inflammatory bowel disease are poorly characterized, but autoimmune hepatitis (AIH) and primary sclerosing cholangitis (PSC) occur in ulcerative colitis (UC). Material/Methods: Total number of 14 patients from the pediatric hospital (5 females, 9 males) aged 5 to 17 years (mean a...

Candidiasis is an infectious complication in organ transplant recipients resulting from the patients' immunodeficiency and virulence of fungi pathogens. The purpose of this study was to evaluate the frequency of Candida spp. and identify their presence in the oral lesions of graft recipients. This study included 185 patients, 1.5 to 25.2 years of a...

Biliary atresia (BA) is a progressive, idiopathic obliteration of the extrahepatic biliary system occurring exclusively in the neonatal period. It is the most common disease leading to liver transplantation in children. The etiology of BA is unknown, although infectious, immune and genetic causes have been suggested. Although the recurrence of BA i...

Gregorek H, Jankowska I, Dzierżanowska-Fangrat K, Teisseyre J, Sawicka A, Kasztelewicz B, Pawłowska J. Long-term monitoring of Epstein–Barr virus DNA load and humoral parameter abnormalities in pediatric liver transplant recipients before development of malignancy. Pediatr Transplantation 2010: 14:629–635. © 2010 John Wiley & Sons A/S. Abstract: EB...

16 th Annual International Congress of ILTS was held from 16 th to 19 th June 2010 in Hong Kong, China. More than 1 000 participants gathered to discuss main issues of new surgical approaches, current clinical practices and immunosuppressant treatment regiments. The author presents a few points concerning modern immunosuppression strategies that ha...

Background: The role of cytomegalovirus infection in children with neonatal cholestasis is still unclear. The aim of the study was to examine the correlation between severity of cholestasis, the degree of liver damage and the presence of the virus in the liver tissue. Material/Methods: Nine cholestatic children (mean age 6.5 weeks) were enrolled in...

Background Infection with hepatitis C virus (HCV) is a common problem. 6 virus genotypes with several dozen subtypes were distinguished. 1b subtype predominates in Poland, but according to various sources 1a or 1b types predominate in children. Genotype type is connected with infection course and treatment efficiency.

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 orig...

Background: Twelve liver biopsies with hepatic granulomas obtained from patients with a mean age of 8 years were examined retrospectively. The granulomas contained epithelioid cells as modified macrophages with a variety of other inflammatory cells with or without central necrosis The histological features of the hepatic granulomas were classified...

The hepatitis C virus (HCV) infection course and efficacy of treatment may be depended on HLA antigens. The aim of the study is attempt to define dependence between the course of HCV infection and efficacy its treatment and HLA A antigens in children and youth. To the study included 61 patients (51 after treatment for HCV infection and 10 not treat...

Anti-CMV prophylaxis is currently a routine management in patients after organ transplantation. One of the clinical symptoms of CMV infection may be lesions in the oral cavity.The aim of this study was to determine the relationship between CMV infection, occurrence of Candida species and presence of oral mucosal ulceration in transplant recipients....

α1-antitrypsin deficiency is a genetic disorder associated with liver disease mainly during infancy or childhood and with emphysema in adults. It is the most common metabolic disease as an indication for liver transplantation in children. Liver injury is observed only in 10-15% of children with homozygous form of α 1-antitrypsin deficiency. The nat...

The authors discuss the main difficulties in the nutrition of chronic cholestatic liver disease in children on the basis of their own experience.

Immunosuppressive and antibacterial regimens in children after liver transplantation create a gut microflora imbalance that can be indirectly measured by the activity of fecal enzymes. The aim of this study was to specify the influence of diet supplementation with probiotic Lactobacillus casei DN on the activity of beta-glucuronidase, beta-glucosid...

Aspergillus infection in immunocompromised patients is associated with high morbidity and mortality. We retrospectively reviewed cases of Aspergillosis (A), in a series of 277 children who received LTx between 1990 and 2006. All children were given antifungal prophylaxis after transplantation. Aspergillosis was identified in 10 cases (3.6%) and dia...

Background: Jeune syndrome (asphyxiating thoracic dystrophy, asphyxiating thoracic dysplasia) is an autosomal recessive skeletal dysplasia with multisystem involvement. The disorder is usually considered lethal, with death resulting from respiratory insufficiency during infancy, or from renal failure during childhood. Involvement of the liver may i...

Transmission of hepatitis B virus (HBV) infection from donors negative for hepatitis B surface antigen (HBsAg) but positive for antibody to hepatitis B core antigen (anti-HBc) have been reported. The aim of our study was to evaluate the outcomes of recipients who received liver grafts from living related donors with serological evidence of previous...

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 afte...

Tacrolimus (Tac)-related hypertrophic cardiomyopathy (HCM) has been reported to be an unusual but serious complication affecting pediatric patients after solid organ transplantation. Herein, we present a case of young liver transplant recipient with Tac-induced HCM, treated by discontinuation of Tac followed by conversion to rapamycin (Rap). Our ca...

of the study was to analyse the first 102 living-related liver transplantations performed in Poland at the Children's Memorial Health Institute. between November 1999 and January 2007 102 living-related liver transplantations were carried out in 101 patients. In 63 the patients the indication for liver transplantation was biliary atresia, in 7 - in...

Aim of the study was to analyze the effect of living related liver transplantation on selected parameters of bone formation and resorption in children with liver cirrhosis caused by biliary atresia. 20 children (13F/7M) with biliary atresia aged from 6 month to 2.4 years were enrolled into the study 4-9 days before liver transplantation. Osteocalci...

Malnutrition leading to growth failure is one of the main problems in maintainig children with chronic liver diseases. The pathogenesis of malnutrition is complex and includes reduced calorie intake, fat malabsorption, impaired protein metabolism and increased energy expenditure. The nutritional status is an important risk factor for survival post...

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 "neonata...

focal nodular hyperplasia (FNH) is a benign tumour of the liver, often discovered incidentally. It occurs mainly in women between 25-44 years old. Though it is rarefy reported in children the evidence has been growing in the recent years. of our work was to show our experience of focal nodular hyperplasia in pediatric cases. 10 children, aged 6-17...

The aim of study was to report the preliminary results and complications of HCV infection treatment after liver transplantation. Six patients after liver transplantation (one after combine liver and kidney) had been qualified to treatment with pegylated interferon and ribavirin. In four patients the therapy was discontinued due to severe side effec...