Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366
Titre abrégé: Genet Med
Pays: United States
ID NLM: 9815831
Informations de publication
Date de publication:
09 2021
09 2021
Historique:
received:
16
11
2020
accepted:
26
04
2021
revised:
23
04
2021
pubmed:
28
5
2021
medline:
21
10
2021
entrez:
27
5
2021
Statut:
ppublish
Résumé
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. 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. 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. 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.
Identifiants
pubmed: 34040193
doi: 10.1038/s41436-021-01200-2
pii: S1098-3600(21)05103-0
pmc: PMC8463480
mid: NIHMS1725742
doi:
Types de publication
Research Support, N.I.H., Intramural
Systematic Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1604-1615Subventions
Organisme : Intramural NIH HHS
ID : Z99 HG999999
Pays : United States
Informations de copyright
© 2021. This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.
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