Journalartikel
Autorenliste: Rossignol, Francis; Moreno, Marvid S. Duarte; Benoist, Jean-Francois; Boehm, Manfred; Bourrat, Emmanuelle; Cano, Aline; Chabrol, Brigitte; Cosson, Claudine; Diaz, Jose Luis Dapena; D'Harlingue, Arthur; Dimmock, David; Freeman, Alexandra F.; Garcia, Maria Tallon; Garganta, Cheryl; Goerge, Tobias; Halbach, Sara S.; de Laffolie, Jan; Lam, Christina T.; Martin, Ludovic; Martins, Esmeralda; Meinhardt, Andrea; Melki, Isabelle; Ombrello, Amanda K.; Perez, Noemie; Quelhas, Dulce; Scott, Anna; Slavotinek, Anne M.; Soares, Ana Rita; Stein, Sarah L.; Suessmuth, Kira; Thies, Jenny; Ferreira, Carlos R.; Schiff, Manuel
Jahr der Veröffentlichung: 2021
Seiten: 1604-1615
Zeitschrift: Genetics in Medicine
Bandnummer: 23
Heftnummer: 9
ISSN: 1098-3600
eISSN: 1530-0366
Open Access Status: Green
DOI Link: https://doi.org/10.1038/s41436-021-01200-2
Verlag: Elsevier
Abstract:
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.
Zitierstile
Harvard-Zitierstil: Rossignol, F., Moreno, M., Benoist, J., Boehm, M., Bourrat, E., Cano, A., et al. (2021) Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases, Genetics in Medicine, 23(9), pp. 1604-1615. https://doi.org/10.1038/s41436-021-01200-2
APA-Zitierstil: Rossignol, F., Moreno, M., Benoist, J., Boehm, M., Bourrat, E., Cano, A., Chabrol, B., Cosson, C., Diaz, J., D'Harlingue, A., Dimmock, D., Freeman, A., Garcia, M., Garganta, C., Goerge, T., Halbach, S., de Laffolie, J., Lam, C., Martin, L., ...Schiff, M. (2021). Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases. Genetics in Medicine. 23(9), 1604-1615. https://doi.org/10.1038/s41436-021-01200-2
Schlagwörter
2 SIBLINGS; CHRONIC LEG ULCERATIONS; IMINODIPEPTIDURIA; NONSENSE MUTATION; PEPD GENE; PROLINASE ACTIVITY; RECURRENT ULCERATIONS; SKIN ULCERS
