Prolidase deficiency associated with systemic lupus erythematosus (SLE): Single site experience and literature review

Pediatric Rheumatology

Volumn 10, Issue , 2012, Pages

  Butbul Aviel, Yonatan ^a,b,c,d   Mandel, Hana ^a,c,e   Avitan Hersh, Emily ^a,d,f   Bergman, Reuven ^a,d,f   Adiv, Orly E ^a,c,g   Luder, Anthony ^d,h   Brik, Riva ^a,b,c,d  

^a Department of Pediatrics B ^*  (Israel)

^b Pediatric Rheumatology service   (Israel)

^c MEYER CHILDREN S HOSPITAL   (Israel)

^d TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^e Metabolic Bone Diseases Unit   (Israel)

^f RAMBAM MEDICAL CENTER   (Israel)

^g Clalit HMO   (Israel)

^h Ziv Medical Centre   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLOPHOSPHAMIDE; HYDROXYCHLOROQUINE; METHYLPREDNISOLONE; PREDNISONE; PROLINE DIPEPTIDASE;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; COHORT ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINITY; DISEASE ASSOCIATION; FEMALE; HUMAN; ISRAEL; LOW DRUG DOSE; MALE; MEDICAL LITERATURE; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROLIDASE DEFICIENCY; SKIN BIOPSY; STEROID THERAPY; SYSTEMIC LUPUS ERYTHEMATOSUS;

EID: 84862543014     PISSN: None     EISSN: 15460096     Source Type: Journal    
DOI: 10.1186/1546-0096-10-18     Document Type: Article

References (22)

1. Royce PM, Steinma B. Prolidase Deficiency 1993, New York: Wiley-Liss.
2. Dyne K, Zanaboni G, Bertazzoni M, Cetta G, Viglio S, Lupi A, et al. Mild, late-onset prolidase deficiency: another Italian case. Br J Dermatol 2001, 144(3):635-636. 10.1046/j.1365-2133.2001.04106.x, 11260036.
3. Hochberg MC. The incidence of systemic lupus erythematosus in Baltimore, Maryland, 1970-1977. Arthritis Rheum 1985, 28(1):80-86. 10.1002/art.1780280113, 3966940.
4. Fessel WJ. Epidemiology of systemic lupus erythematosus. Rheum Dis Clin North Am 1988, 14(1):15-23.
5. Hiraki LT, Benseler SM, Tyrrell PN, Hebert D, Harvey E, Silverman ED. Clinical and laboratory characteristics and long-term outcome of pediatric systemic lupus erythematosus: a longitudinal study. J Pediatr 2008, 152(4):550-556. 10.1016/j.jpeds.2007.09.019, 18346514.
6. Tucker LB, Uribe AG, Fernandez M, Vila LM, McGwin G, Apte M, et al. Adolescent onset of lupus results in more aggressive disease and worse outcomes: results of a nested matched case-control study within LUMINA, a multiethnic US cohort (LUMINA LVII). Lupus 2008, 17(4):314-322. 10.1177/0961203307087875, 2818044, 18413413.
7. Shrinath M, Walter JH, Haeney M, Couriel JM, Lewis MA, Herrick AL. Prolidase deficiency and systemic lupus erythematosus. Arch Dis Child 1997, 76(5):441-444. 10.1136/adc.76.5.441, 1717183, 9196362.
8. Klar A, Navon-Elkan P, Rubinow A, Branski D, Hurvitz H, Christensen E, et al. Prolidase deficiency: it looks like systemic lupus erythematosus but it is not. Eur J Pediatr 2009, 169(6):727-732.
9. Di Rocco M, Fantasia AR, Taro M, Loy A, Forlino A, Martini A. Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency. J Inherit Metab Dis 2007, 30(5):814. 10.1007/s10545-007-0496-z, 17570078.
10. Falik-Zaccai TC, Khayat M, Luder A, Frenkel P, Magen D, Brik R, et al. A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability. Am J Med Genet B Neuropsychiatr Genet 2010, 153B(1):46-56.
11. Lupi A, De Riso A, Torre SD, Rossi A, Campari E, Vilarinho L, et al. Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship. J Hum Genet 2004, 49(9):500-506.
12. Lupi A, Tenni R, Rossi A, Cetta G, Forlino A. Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations. Amino Acids 2008, 35(4):739-752. 10.1007/s00726-008-0055-4, 18340504.
13. Forlino A, Lupi A, Vaghi P, Icaro Cornaglia A, Calligaro A, Campari E, et al. Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts. Hum Genet 2002, 111(4-5):314-322.
14. Leoni A, Cetta G, Tenni R, Pasquali-Ronchetti I, Bertolini F, Guerra D, et al. Prolidase deficiency in two siblings with chronic leg ulcerations. Clinical, biochemical, and morphologic aspects. Arch Dermatol 1987, 123(4):493-499. 10.1001/archderm.1987.01660280095032, 3827281.
15. Sekiya M, Ohnishi Y, Kimura K. An autopsy case of prolidase deficiency. Virchows Arch A Pathol Anat Histopathol 1985, 406(1):125-131. 10.1007/BF00710562, 3922107.
16. Bissonnette R, Friedmann D, Giroux JM, Dolenga M, Hechtman P, Der Kaloustian VM, et al. Prolidase deficiency: a multisystemic hereditary disorder. J Am Acad Dermatol 1993, 29(5 Pt 2):818-821.
17. Rajani KB, Ashbacher LV, Kinney TR. Pulmonary hemorrhage and systemic lupus erythematosus. J Pediatr 1978, 93(5):810-812. 10.1016/S0022-3476(78)81087-7, 712490.
18. Ramirez RE, Glasier C, Kirks D, Shackelford GD, Locey M. Pulmonary hemorrhage associated with systemic lupus erythematosus in children. Radiology 1984, 152(2):409-412.
19. Miller RW, Salcedo JR, Fink RJ, Murphy TM, Magilavy DB. Pulmonary hemorrhage in pediatric patients with systemic lupus erythematosus. J Pediatr 1986, 108(4):576-579. 10.1016/S0022-3476(86)80839-3, 3958832.
20. Weinrib L, Sharma OP, Quismorio FP. A long-term study of interstitial lung disease in systemic lupus erythematosus. Semin Arthritis Rheum 1990, 20(1):48-56. 10.1016/0049-0172(90)90094-V, 2218553.
21. Fukumura A, Asaka T, Kasakura H, Doshita T, Chen W, Yokoji H, et al. Prolidase deficiency with various clinical conditions including hyper-IgE and multiple lung bulla formation. Nihon Naika Gakkai Zasshi 2009, 98(1):150-152. 10.2169/naika.98.150, 19227921.
22. Kelly JJ, Freeman AF, Wang H, Cowen EW, Kong HH. An Amish boy with Recurrent ulcerations of the lower extremities, telangiectases of the hands, and chronic lung disease. J Am Acad Dermatol 2010, 62(6):1031-1034. 10.1016/j.jaad.2009.12.038, 3413893, 20466176.