Irena Jankowska
A5075399641- Pediatric Hepatobiliary Diseases and Treatments
- Liver Disease Diagnosis and Treatment
- Liver Diseases and Immunity
- Drug Transport and Resistance Mechanisms
- Organ Transplantation Techniques and Outcomes
- Liver Disease and Transplantation
- Gallbladder and Bile Duct Disorders
- Metabolism and Genetic Disorders
- Neonatal Health and Biochemistry
- Genetic and Kidney Cyst Diseases
- Silymarin and Mushroom Poisoning
- Digestive system and related health
- Renal Transplantation Outcomes and Treatments
- Hepatitis B Virus Studies
- Drug-Induced Hepatotoxicity and Protection
- Clinical Nutrition and Gastroenterology
- Congenital Anomalies and Fetal Surgery
- Pharmacological Effects and Toxicity Studies
- Viral-associated cancers and disorders
- Biomedical Research and Pathophysiology
- Gastroesophageal reflux and treatments
- Intestinal Malrotation and Obstruction Disorders
- Lymphoma Diagnosis and Treatment
- Immunodeficiency and Autoimmune Disorders
- Polyomavirus and related diseases
Children's Memorial Health Institute
2015-2024
ERN GUARD-Heart
2020-2023
ERN RARE-LIVER
2020-2023
University Medical Center Groningen
2022
University of Groningen
2022
University of Ottawa
2022
Children's Hospital of Eastern Ontario
2022
Instytut Matki i Dziecka
2002-2021
Pediatrics and Genetics
2020
Lurie Children's Hospital
2014
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 salt export pump (BSEP) mutation ABCB11 , encoding BSEP, underlay progressive familial intrahepatic cholestasis (PFIC)—or “neonatal hepatitis” suggesting PFIC—that was associated with HCC studied 11 cases pediatric setting PFIC or PFIC. Archival liver were retrieved immunostained for...
Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent (BRIC) are clinically distinct hereditary disorders. PFIC patients suffer from chronic develop liver fibrosis. BRIC experience intermittent attacks of that resolve spontaneously. Mutations in ATP8B1 (previously FIC1 ) may result or BRIC. We report the genomic organization mutation analyses 180 families with identified 54 disease mutations, including 10 mutations predicted to disrupt splicing, 6 nonsense 11 small...
Children with progressive familial intrahepatic cholestasis, including bile salt export pump (BSEP) and cholestasis-associated protein 1 (FIC1) deficiencies, suffer debilitating cholestatic pruritus that adversely affects growth quality of life (QoL). Reliance on surgical interventions, liver transplantation, highlights the unmet therapeutic need. INDIGO was an open-label, Phase 2, international, long-term study to assess efficacy safety maralixibat in children FIC1 or BSEP deficiencies....
Background and Aims: Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, real‐world lacking. This study aimed to elucidate the natural history of liver disease in contemporary, international cohort children with ALGS. Approach Results: was multicenter retrospective clinically and/or genetically confirmed ALGS diagnosis, born between January 1997 August 2019. Native survival (NLS) event‐free rates...
Progressive familial intrahepatic cholestasis (PFIC) with normal circulating gamma‐glutamyl transpeptidase levels can result from mutations in the ATP8B1 gene (encoding 1 [FIC1] deficiency) or ABCB11 (bile salt export protein [BSEP] deficiency). We investigated outcomes of partial external biliary diversion, ileal exclusion, and liver transplantation these two conditions. conducted a retrospective multicenter study 42 patients FIC1 deficiency (FIC1 patients) 60 BSEP (BSEP who had undergone...
Background and Aims: Alagille syndrome (ALGS) is characterized by chronic cholestasis with associated pruritus extrahepatic anomalies. Maralixibat, an ileal bile acid transporter inhibitor, approved pharmacologic therapy for cholestatic in ALGS. Since long-term placebo-controlled studies are not feasible or ethical children rare diseases, a novel approach was taken comparing 6-year outcomes from maralixibat trials aligned harmonized natural history cohort the G lobal AL agille A lliance...
Progressive familial intrahepatic cholestasis (PFIC, Byler's disease) is an autosomal recessive disorder resulting in liver fibrosis/cirrhosis and insufficiency. Before the 1990s, transplantation was only effective therapy for these children. During last 12 years, two alternative methods of surgical treatment have been proposed: partial external biliary diversion (PEBD) ileal bypass procedure (IB), which allow elimination bile acids accumulated body. In this study, we compare efficacy...
Intestinal opportunistic infections are often caused by unicellular parasites. Individuals with decreased immunity particularly susceptible to infection said microorganisms, and when they infected, diarrhea can be the main clinical manifestation. However, intestinal parasites have rarely been taken into account in disorders. In our study, an investigation was conducted determine prevalence of micro-pathogens, such as Cryptosporidium, Giardia, Blastocystis, microsporidia, hospitalized...
Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive 1. The rarity of FIC1 deficiency has largely prevented a detailed analysis its natural history, effects predicted protein truncating mutations (PPTMs), and possible associations serum bile acid (sBA) concentrations surgical biliary diversion (SBD) with long-term outcome. We aimed provide insights by using the largest genetically defined cohort...
Abstract: Progressive intrahepatic familial cholestasis (PFIC), previously called Byler’s disease, is a syndrome in which children develop severe progressing to biliary cirrhosis and chronic liver failure, usually during the first decade of life. Clinical features include jaundice, hepatomegaly, splenomegaly, growth retardation pruritis. Laboratory tests demonstrate elevated bilirubin bile acids, without an increase serum gamma‐glutamyl‐transpeptidase or cholesterol. This study was performed...
Although a number of genetic forms cholestasis have been identified, the etiology disease remains unidentified in subset patients.Whole exome sequencing (WES) was performed DNA from patients diagnosed with cholestasis, at different points on continuum progressive familial intrahepatic to benign recurrent whom no mutations known genes had identified. Candidate were then assessed larger patient sample, by targeted next-generation (NGS). Disease features presentation and follow-up collected...
and valproate liver toxicity
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 of choice but for those who cannot PEBD, an alternative procedure--ileal exclusion (IE)--was introduced. The aim this study was to analyze our experience IE in children PFIC.This procedure performed 9 (6 girls, 3 boys) at median age 11 years (range 8-21). In 4 children, it primary...
Gallstones are increasingly common in children. Genetic analyses of adult cohorts demonstrated that the sterol transporter ABCG8 p.D19H and Gilbert UGT1A1*28 variants enhance odds developing gallstones. The genetic background lithiasis children remains unknown.Overall, 214 with gallstone disease (1 month-17 years, 107 boys) were inclueded. control comprised (age 6-17 115 172 adults 40-92 70 men) without polymorphisms as well ABCB4 (c.504C>T rs1202283, c.711A>T rs2109505) NPC1L1 (p.V1296V...
BACKGROUND:The aim of our study was to retrospectively assess any correlation between graft fibrosis and selected immunological factors in pediatric liver transplant recipients. MATERIAL AND METHODS:The performed on 33 patients after living related donor transplantation, divided into 2 groups depending history acute rejection episodes transplantation. We assessed biopsies for presence fibrosis, signs antibody-mediated rejection, inflammatory infiltrations, changes bile ducts. correlated...
Objective: To evaluate the clinical utility of panel-based NGS in diagnostic approach monogenic cholestatic liver diseases. Study design: Patients with diagnosis chronic disease an unknown etiology underwent targeted genes panel. Group 1 included five patients (prospectively recruited) hospitalized from January to December 2017 while group 2 seventeen (retrospectively 2010 presenting low-GGT PFIC phenotype (group 2a, 11 patients) or indeterminant cirrhosis 2b, 6 patients). Results: Among 22...