Vaso-occlusion in Schimke-immuno-osseous dysplasia: Is the NO pathway involved?

Hormone and Metabolic Research

Volumn 38, Issue 10, 2006, Pages 678-682

  Lücke, Thomas ^a,c   Tsikas, D ^a   Kanzelmeyer, N K ^a   Boerkoel, C F ^b   Clewing, J M ^b   Vaske, B ^a   Ehrich, J H H ^a   Das, A M ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c Department of Pediatrics ^*  (Germany)

Author keywords

Asymmetric dimethylarginine; Atherosclerosis; Mass spectrometry; Nitrate; Nitrite; Vascular dysfunction; Vaso occlusive disease

Indexed keywords

ANTIHYPERTENSIVE AGENT; ANTILIPEMIC AGENT; N(G),N(G) DIMETHYLARGININE; NITRATE; NITRIC OXIDE; NITRIC OXIDE SYNTHASE; NITRITE;

ADOLESCENT; ADULT; ARTICLE; ATHEROSCLEROSIS; AUTOSOMAL RECESSIVE DISORDER; BLOOD ANALYSIS; BLOOD VESSEL OCCLUSION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DYSPLASIA; FEMALE; HUMAN; MALE; PRIORITY JOURNAL; SCHIMKE IMMUNO OSSEOUS DYSPLASIA; URINALYSIS;

ADOLESCENT; ADULT; ARGININE; ARTERIAL OCCLUSIVE DISEASES; ATHEROSCLEROSIS; CHILD; CHILD, PRESCHOOL; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; MALE; NEPHROTIC SYNDROME; NITRATES; NITRIC OXIDE; NITRIC OXIDE SYNTHASE; NITRITES; OSTEOCHONDRODYSPLASIAS;

EID: 33751050628     PISSN: 00185043     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2006-954584     Document Type: Article

References (28)

1. Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, Andre JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Frund S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immunoosseous dysplasia. Nat Genet 2002; 30: 215-220
2. Boerkoel CF, O'Neill S, Andre JL, Benke PJ, Bogdanovic R, Bulla M, Burguet A, Cockfield S, Cordeiro I, Ehrich JH, Frund S, Geary DF, Ieshima A, Illies F, Joseph MW, Kaitila I, Lama G, Leheup B, Ludman MD, McLeod DR, Medeira A, Milford DV, Ormala T, Rener-Primec Z, Santava A, Santos, HG, Schmidt B, Smith GC, Spranger J, Zupancic N, Weksberg R. Manifestations and treatment of Schimke immunoosseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr 2000; 159: 1-7
3. Rees D, Palmer R, Moncada S. Role of endothelium-derived nitric oxide in the regulation of blood pressure. Proc Natl Acad Sci U S A 1989; 86: 3375-3378
4. Haynes WG, Noon JP, Walker BR, Webb DJ. Inhibition of nitric oxide synthesis increases blood pressure in healthy humans. J Hypertens 1993; 11: 1375-1380
5. Fozard JR, Part ML. Haemodynamic responses to NG-monomethyl-L-arginine in spontaneously hypertensive and normotensive Wistar-Kyoto rats. Br J Pharmacol 1991; 102: 823-826
6. Leiper JM, Vallance P. The synthesis and metabolism of asymmetric dimethylarginine (ADMA). Eur J Clin Pharmacol 2006; 62 (Suppl 13): 33-38
7. Tsikas D, Boger RH, Sandmann J, Bode-Boger SM, Frolich JC Endogenous nitric oxide synthase inhibitors are responsible for the L-arginine paradox. FEBS Lett 2000; 478: 1-3
8. Vallance P, Leone A, Calver A, Collier J, Moncada S. Accumulation of an endogenous inhibitor of nitric oxide synthesis in chronic renal failure. Lancet 1992; 339: 572-575
9. Kielstein JT, Tsikas D, Fliser D. Effects of asymmetric dimethylarginine (ADMA) infusion in humans. Eur J Clin Pharmacol 2006; 62 (Suppl 13): 39-44
10. Boger RH, Bode-Boger SM, Brandes RP, Phivthong-ngam L, Bohme M, Nafe R, Mugge A and Frolich JC. Dietary L-arginine reduces the progression of atherosclerosis in cholesterol-fed rabbits: comparison with lovastatin. Circulation 1997; 96: 1282-1290
11. Lücke T, Marwedel KM, Kanzelmeyer NK, Hori A, Offner G, Kreipe HH, Ehrich JH, Das AM. Generalized atherosclerosis sparing the transplanted kidney in Schimke disease. Pediatr Nephrol 2004; 19: 672-675
12. Spranger J, Hinkel GK, Stoss H, Thoenes W, Wargowski D, Zepp F. Schimke immuno-osseous dysplasia: a newly recognized multisystem disease. J Pediatr 1991; 119: 64-72
13. Tsikas D, Gutzki FM, Stichtenoth DO. Circulating and excretory nitrite and nitrate as indicators of nitric oxide synthesis in humans: methods of analysis. Eur J Clin Pharmacol 2006; 62 (Suppl 13): 51-59
14. Tsikas D, Schubert B, Gutzki FM, Sandmann J, Frolich JC. Quantitative determination of circulating and urinary asymmetric dimethylarginine (ADMA) in humans by gas chromatography-tandem mass spectrometry as methyl ester tri(N-pentafluoropropionyl) derivative. J Chromatogr B Analyt Technol Biomed Life Sci 2003; 798: 87-99
15. Tsikas D. Simultaneous derivatization and quantification of the nitric oxide metabolites nitrite and nitrate in biological fluids by gas chromatography/mass spectrometry. Anal Chem 2000; 72: 4064-4072
16. Tsikas D, Wolf A, Frolich JC. Simplified HPLC method for urinary and circulating creatinine. Clin Chem 2004; 50: 201-203
17. Ehrich JH, Burchert W, Schirg E, Krull F, Offner G, Hoyer PF, Brodehl J. Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia. Clin Nephrol 1995; 43: 89-95
18. Schmidt B, Christen HJ, Herkenrath P, Benz-Bohm G, Muller-Berghaus J, Querfeld U. Cerebral complications in Schimke immuno-osseous dysplasia. Eur J Pediatr 1997; 156: 789-791
19. Boerkoel CF, Nowaczyk MJ, Blaser SI, Meschino WS, Weksberg R. Schimke immuno-osseous dysplasia complicated by moyamoya phenomenon. Am J Med Genet 1998; 78: 118-122
20. Lücke T, Kemper M, Neumaier-Probst E, Bentele K, Spranger J, Kohlschutter A. Das Moya-Moya-Phänomen bei der Immuno-Ossären Dysplasie Schimke. In: Monatsschr Kinderheilkd, 1999; 904
21. Ehrich JH, Offner G, Schirg E, Hoyer PF, Helmchen U, Brodehl J. Association of spondylo-epiphyseal dysplasia with nephrotic syndrome. Pediatr Nephrol 1990; 4: 117-121
22. Lou S, Lamfers P, McGuire N, Boerkoel CF. Longevity in Schimke immuno-osseous dysplasia. J Med Genet 2002; 39: 922-925
23. Clark JF, Kemp GJ, Radda GK. The creatine kinase equilibrium, free [ADP] and myosin ATPase in vascular smooth muscle cross-bridges. J Theor Biol 1995; 173: 207-211
24. Kim P, Jones JD, Sundt TM, Jr. High-energy phosphate levels in the cerebral artery during chronic vasospasm after subarachnoid hemorrhage. J Neurosurg 1992; 76: 991-996
25. Lücke T, Ehrich JH, Das AM. Mitochondrial function in Schimke-immuno-osseous dysplasia. Metab Brain Dis 2005; 20: 237-242
26. 2e Moncada S, Higgs A. The L-arginine-nitric oxide pathway. N Engl J Med 1993; 329: 2002-2012
27. Cooke JP, Dzau VJ. Nitric oxide synthase: role in the genesis of vascular disease. Annu Rev Med 1997; 48: 489-509
28. Cayatte AJ, Palacino JJ, Horten K, Cohen RA. Chronic inhibition of nitric oxide production accelerates neointima formation and impairs endothelial function in hypercholesterolemic rabbits. Arterioscler Thromb 1994; 14: 753-759