Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.

Autor: Rossignol F; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Duarte Moreno MS; Reference Centre for Inherited Metabolic Diseases, Assistance Publique Hôpitaux de Paris, Hôpital universitaire Robert-Debré, Université de Paris, Paris, France., Benoist JF; Reference Centre for Inherited Metabolic Diseases, Assistance Publique Hôpitaux de Paris, Hôpital universitaire Necker-Enfants malades, Université de Paris, Paris, France., Boehm M; National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Bourrat E; Reference Center for Genodermatoses MAGEC Saint Louis, Assistance Publique Hôpitaux de Paris, Hôpital universitaire Saint Louis, Paris, France., Cano A; Reference Center for Inherited Metabolic Disorders, Assistance Publique Hôpitaux de Marseille, Centre Hospitalier Universitaire de La Timone Enfants, Marseille, France., Chabrol B; Reference Center for Inherited Metabolic Disorders, Assistance Publique Hôpitaux de Marseille, Centre Hospitalier Universitaire de La Timone Enfants, Marseille, France., Cosson C; Laboratoire de Biochimie, Hôpital Bicêtre, Assistance Publique Hôpitaux de Paris, Le Kremlin-Bicêtre, France., Díaz JLD; Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., D'Harlingue A; Benioff Children's Hospital Oakland, University of California, San Francisco, Oakland, CA, USA., Dimmock D; Project Baby Bear, Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Freeman AF; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., García MT; Hospital Álvaro Cunqueiro, Universidad de Santiago de Compostela, Vigo, Spain., Garganta C; Division of Genetics and Metabolism, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL, USA., Goerge T; Department of Dermatology, University Hospital Münster, Münster, Germany., Halbach SS; University of Chicago Medicine, University of Chicago, Chicago, IL, USA., de Laffolie J; University Children's Hospital, Justus-Liebig-University, Giessen, Germany., Lam CT; Seattle Children's Hospital, Seattle, WA, USA.; Department of Pediatrics, School of Medicine, University of Washington, Seattle, WA, USA., Martin L; Centre Hospitalier Universitaire d'Angers, Angers, France., Martins E; Centro Hospitalar Universitário do Porto, Porto, Portugal., Meinhardt A; University Children's Hospital, Justus-Liebig-University, Giessen, Germany., Melki I; General Pediatrics, Infectious Disease and Internal Medicine Department, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE), Paris, France.; Pediatric Hematology-Immunology and Rheumatology Department, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE), Paris, France.; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Paris, France., Ombrello AK; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Pérez N; Centre Hospitalier de Valenciennes, Valenciennes, France., Quelhas D; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, Unit for Multidisciplinary Research in Biomedicine, ICBAS, UP, Porto, Portugal., Scott A; Seattle Children's Hospital, Seattle, WA, USA.; Department of Pediatrics, School of Medicine, University of Washington, Seattle, WA, USA., Slavotinek AM; Division of Medical Genetics, Department of Pediatrics, Benioff Children's Hospital San Francisco, University of California, San Francisco, San Francisco, CA, USA., Soares AR; Centro Hospitalar Universitário do Porto, Porto, Portugal., Stein SL; University of Chicago Medicine, University of Chicago, Chicago, IL, USA., Süßmuth K; Department of Dermatology, University Hospital Münster, Münster, Germany., Thies J; Seattle Children's Hospital, Seattle, WA, USA., Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. carlos.ferreira@nih.gov., Schiff M; Reference Centre for Inherited Metabolic Diseases, Assistance Publique Hôpitaux de Paris, Hôpital universitaire Robert-Debré, Université de Paris, Paris, France.; Reference Centre for Inherited Metabolic Diseases, Assistance Publique Hôpitaux de Paris, Hôpital universitaire Necker-Enfants malades, Université de Paris, Paris, France.; INSERM U1163, Institut Imagine, Paris, France.
Jazyk: angličtina
Zdroj: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Sep; Vol. 23 (9), pp. 1604-1615. Date of Electronic Publication: 2021 May 26.
DOI: 10.1038/s41436-021-01200-2
Abstrakt: Purpose: Prolidase deficiency is a rare inborn error of metabolism causing ulcers and other skin disorders, splenomegaly, developmental delay, and recurrent infections. Most of the literature is constituted of isolated case reports. We aim to provide a quantitative description of the natural history of the condition by describing 19 affected individuals and reviewing the literature.
Methods: Nineteen patients were phenotyped per local institutional procedures. A systematic review following PRISMA criteria identified 132 articles describing 161 patients. Main outcome analyses were performed for manifestation frequency, diagnostic delay, overall survival, symptom-free survival, and ulcer-free survival.
Results: Our cohort presented a wide variability of severity. Autoimmune disorders were found in 6/19, including Crohn disease, systemic lupus erythematosus, and arthritis. Another immune finding was hemophagocytic lymphohistiocytosis (HLH). Half of published patients were symptomatic by age 4 and had a delayed diagnosis (mean delay 11.6 years). Ulcers were present initially in only 30% of cases, with a median age of onset at 12 years old.
Conclusion: Prolidase deficiency has a broad range of manifestations. Symptoms at onset may be nonspecific, likely contributing to the diagnostic delay. Testing for this disorder should be considered in any child with unexplained autoimmunity, lower extremity ulcers, splenomegaly, or HLH.
(© 2021. This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.)
Databáze: MEDLINE
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