Publications by authors named "Dominique Debray"

Article Synopsis
  • Wilson disease (WD) is a rare genetic disorder affecting copper metabolism, leading to copper buildup in the liver and brain, analyzed using data from the French national health database between 2010 and 2019.
  • The study identified 2287 patients with a prevalence rate of 1 in 33,898 individuals; most patients were around 40 years old and exhibited significant morbidity with 44.2% having liver issues, 33.0% neurological symptoms, and 18.1% psychiatric problems.
  • The research highlights the substantial healthcare costs associated with WD, averaging 4273.7€ per patient annually for hospitalization and significant sick leave expenses, indicating a considerable economic burden on affected individuals and the healthcare system.
View Article and Find Full Text PDF
Article Synopsis
  • - The ChilSFree study analyzed immune dynamics in 244 pediatric liver transplant (pLT) patients over a year to find early biomarkers for rejection, using advanced lab techniques to measure soluble immune mediators (SIMs) and immune cells.
  • - Researchers identified six unique SIM signatures that correlated with clinical outcomes, highlighting one specific signature linked to improved rejection-free survival and stable graft function characterized by low pro-inflammatory levels and high regenerative markers.
  • - Findings suggest that these blood SIM signatures could serve as non-invasive, early indicators of rejection risk post-transplant, potentially allowing for more precise immunosuppression management in pediatric patients.
View Article and Find Full Text PDF

Wilson's disease (WD) is a rare inherited disease due to the mutation of the ATP7B gene, resulting in impaired hepatic copper excretion and its pathological accumulation in various organs such as the liver, the nervous system, or the kidneys. Whereas liver failure and neuropsychiatric disorders are the most common features, less is known about the renal complications. We conducted a review of the literature to define the characteristics and pathophysiology of kidney involvement during WD.

View Article and Find Full Text PDF
Article Synopsis
  • The text refers to a correction made to an academic article previously published with the DOI number 10.1016/j.jhepr.2023.100933.
  • This correction is expected to address errors or inaccuracies found within the original article.
  • Such corrections are important for maintaining the integrity and reliability of academic literature.
View Article and Find Full Text PDF

The broad spectrum of hepatobiliary involvement in cystic fibrosis (CF) has been commonly referred to as cystic fibrosis liver disease (CFLD). However, differences in the definitions of CFLD have led to variations in reported prevalence, incidence rates, and standardized recommendations for diagnosis and therapies. Harmonizing the description of the spectrum of hepatobiliary involvement in all people with CF (pwCF) is deemed essential for providing a reliable account of the natural history, which in turn supports the development of meaningful clinical outcomes in patient care and research.

View Article and Find Full Text PDF
Article Synopsis
  • Congenital portosystemic shunts can lead to serious systemic issues, including liver nodules, pulmonary hypertension, hormonal imbalances, and cognitive problems.
  • The paper provides expert advice on how to manage liver nodules, treat pulmonary hypertension, and address endocrine issues.
  • Recommendations are also given for the closure of shunts and proper follow-up care for affected patients.
View Article and Find Full Text PDF

Background And Aims: Alagille syndrome (ALGS) is characterized by chronic cholestasis with associated pruritus and extrahepatic anomalies. Maralixibat, an ileal bile acid transporter inhibitor, is an approved pharmacologic therapy for cholestatic pruritus in ALGS. Since long-term placebo-controlled studies are not feasible or ethical in children with rare diseases, a novel approach was taken comparing 6-year outcomes from maralixibat trials with an aligned and harmonized natural history cohort from the G lobal AL agille A lliance (GALA) study.

View Article and Find Full Text PDF
Article Synopsis
  • Autoimmune polyendocrine syndrome type-1 (APS-1) is linked to mutations in the AIRE gene, leading to multiple autoimmune issues and neutralizing antibodies that cause conditions like mucosal candidiasis and susceptibility to viral infections.
  • Ruxolitinib, a JAK inhibitor, was successfully used off-label to treat three APS-1 patients over 30 months without any adverse effects, showing significant improvement in various autoimmune symptoms.
  • These findings indicate that JAK inhibitors could be a promising treatment for APS-1 and that further research is warranted to evaluate their effectiveness across a larger patient population.
View Article and Find Full Text PDF

The intricate association between histologic lesions and circulating antihuman leucocyte antigen donor-specific antibodies (DSA) in liver transplantation (LT) requires further clarification. We conducted a probabilistic, unsupervised approach in a comprehensively well-annotated LT cohort to identify clinically relevant archetypes. We evaluated 490 pairs of LT biopsies with DSA testing from 325 recipients transplanted between 2010 and 2020 across 3 French centers and an external cohort of 202 biopsies from 128 recipients.

View Article and Find Full Text PDF

Cystic fibrosis (CF) may cause a spectrum of hepatobiliary complications, including portal hypertension, multilobular cirrhosis, and liver failure. Current guidelines on the detection and monitoring of hepatobiliary complications in CF were published in 1999. The CF Foundation assembled a committee to evaluate research advances and formulate revised guidelines for CF-associated liver disease.

View Article and Find Full Text PDF

Steroid-free immunosuppression protocols gained popularity in pediatric liver transplantation (pLT) after the introduction of IL-2-receptor blockade for induction therapy. We analyzed the clinical and immunologic outcome data of the multicenter prospective observational ChilSFree study to compare the impact of steroid-free versus steroid-containing immunosuppressive therapy following pLT in a real-life scenario. Two hundred forty-six children [55.

View Article and Find Full Text PDF

Background: The histological prevalence of allograft fibrosis in asymptomatic children after liver transplantation (LT) is well documented. However, long-term graft and patient survival remain unclear. This retrospective multicenter study aims to determine the prevalence of allograft fibrosis and analyze the long-term outcome for patients transplanted in childhood.

View Article and Find Full Text PDF

Background & Aims: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.

View Article and Find Full Text PDF

Background: The current gold standard to diagnose T-cell-mediated acute rejection (TCMR) requires liver histology. Using data from the ChilSFree study on immune response after paediatric liver transplantation (pLT), we aimed to assess whether soluble cytokines can serve as an alternative diagnostic tool in children suspected to have TCMR.

Methods: A total of n = 53 blood samples obtained on the day of or up to 3 days before liver biopsy performed for suspected TCMR at median 18 days (range 7-427) after pLT in n = 50 children (38% female, age at pLT 1.

View Article and Find Full Text PDF
Article Synopsis
  • Allogenic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) are potential cures for severe combined immunodeficiency (SCID), but patients often face late-onset issues like persistent hepatitis.
  • A study of SCID patients revealed that 11 out of 44 experienced persistent hepatitis linked to chronic enteric viral infections, particularly enteric viruses not found in non-hepatitis SCID patients.
  • Treatments like retransplantation or gene therapy showed promise, as 5 patients achieved remission of hepatitis and viral clearance, highlighting the importance of addressing immune dysregulation in these patients.
View Article and Find Full Text PDF

Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive disorder of phenylalanine and tyrosine catabolism due to a deficiency of fumarylacetoacetate hydrolase. HT1 has a large clinical spectrum with acute forms presenting before six months of age, subacute forms with initial symptoms occurring between age 6 and 12 months, and chronic forms after 12 months of age. Without treatment, HT1 results in the accumulation of toxic metabolites leading to liver disease, proximal tubular dysfunction, and porphyria-like neurological crises.

View Article and Find Full Text PDF

Objectives: The European Liver Transplant Registry has been collecting data on virtually all pediatric liver transplant (PLT) procedures in Europe since 1968. We analyzed patient outcome over time and identified parameters associated with long-term patient outcome.

Methods: Participating centers and European organ-sharing organizations provided retrospective data to the European Liver Transplant Registry.

View Article and Find Full Text PDF
Article Synopsis
  • Alagille syndrome (ALGS) is a complex disorder primarily affecting the liver, and this study investigated the long-term liver health of affected children through a large, international sample.
  • The study included 1,433 children diagnosed with ALGS across 67 medical centers in 29 countries, revealing that only about 40% reached adulthood with their native liver intact.
  • Elevated total bilirubin levels in infants are linked to significantly increased risks of developing severe liver-related problems, which can help doctors in making treatment decisions and evaluating therapies for ALGS patients.
View Article and Find Full Text PDF

Background: Wilson's disease (WD) is one of the few genetic disorders that can be successfully treated with pharmacological agents. Copper-chelating agents (D-penicillamine and Trientine salts) and zinc salts have been demonstrated to be effective. There are two salts of trientine.

View Article and Find Full Text PDF

Background: Congenital portosystemic shunts (CPSS) are rare vascular malformations associated with the risk of life-threatening systemic conditions, which remain underdiagnosed and often are identified after considerable diagnostic delay. CPSS are characterized by multiple signs and symptoms, often masquerading as other conditions, progressing over time if the shunt remains patent. Which patients will benefit from shunt closure remains to be clarified, as does the timing and method of closure.

View Article and Find Full Text PDF

Objectives: The Hepatology Committee of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) aims to educate pediatric gastroenterologists, members of ESPGHAN and professionals from other specialties promoting an exchange of clinical expertise in the field of pediatric hepatology.

Methods: The 2020 single topic ESPGHAN monothematic 3-day conference on pediatric liver disease, was organized in Athens, Greece and was entitled " Acute Liver Failure" (ALF). ALF is a devastating disease with high mortality and in a considerable fraction of patients, the cause remains unresolved.

View Article and Find Full Text PDF

Objectives: The Hepatology Committee of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) aims to educate pediatric gastroenterologists, members of ESPGHAN and professionals from other specialties promoting an exchange of clinical expertise in the field of pediatric hepatology. Herewith we have concentrated on detailing the recent advances in acute liver failure in infants and children.

Methods: The 2020 ESPGHAN monothematic three-day conference on pediatric hepatology disease, entitled "acute liver failure" (ALF), was organized in Athens, Greece.

View Article and Find Full Text PDF