Case Report
Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review
1 Department of Pediatrics B, Haifa, Israel
2 Pediatric Rheumatology service, Haifa, Israel
3 Meyer Children's Hospital, Rambam Medical Center, Haifa, Israel
4 Rappaport Faculty of Medicine, Technion-lsrael Institute of Technology, Haifa, Israel
5 Metabolic Unit, Haifa, Israel
6 Department of Dermatology, Haifa, Israel
7 Rambam Medical Center, Haifa, Israel
8 Pediatric Gastroenterology and Nutrition Unit, Haifa, Israel
9 Department of Pediatrics and Genetics Service, Ziv Medical Centre, Safed, Israel
Pediatric Rheumatology 2012, 10:18 doi:10.1186/1546-0096-10-18
Published: 22 June 2012Abstract
Introduction
Prolidase deficiency (PD) is a rare autosomal recessive disorder which may have a wide spectrum of clinical features. These features include a characteristic facies, cognitive impairment, rashes or skin ulceration, splenomegaly, recurrent infections involving mainly the respiratory system, and iminodipeptiduria. The disorder is caused by a mutation in the PEPD gene.
Objective
To describe a cohort of unrelated PD patients from Northern Israel whose inborn error of metabolism was associated with systemic lupus erythematosus (SLE) and to identify in the medical literature all PD cases mimicked by and/or associated with SLE.
Methods
Three patients with PD associated with SLE were clinically, biochemically and genetically investigated. These patients were from 3 unrelated consanguineous families residing in Northern Israel. A computer-assisted (PubMed) search of the medical literature from 1975 to 2011 was performed using the following key words: Prolidase deficiency, SLE, and systemic lupus erythematosus.
Results
An association between PD and SLE was found in 10 PD patients. These 10 patients included three from our cohort of 23 PD patients, and seven out of just under 70 PD patients previously reported in the literature.
Conclusion
The present findings underscore the relatively high incidence of the association between SLE and PD, suggesting that this association may not be coincidental. The phenotypic similarities between SLE and PD might suggest that the PEPD gene constitutes a modifier gene or a genetic risk factor in the causation of SLE.
