Autonomic thermoregulatory dysfunction in neurofibromatosis type 1

Luciana G Madeira; Renata LF Passos; Juliana F de Souza; Nilton A Rezende; Luiz O. C. Rodrigues

doi:10.1590/0004-282X20160122

Arquivos de Neuro-Psiquiatria, Inhaltsverzeichnis

CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2016; 74(10): 796-802
DOI: 10.1590/0004-282X20160122

ARTICLE

Autonomic thermoregulatory dysfunction in neurofibromatosis type 1

Disfunção autonçmica termorregulatória na neurofibromatose do tipo 1

Autoren

Luciana G Madeira

¹Universidade Federal de Minas Gerais, Escola de Educação Física, Fisioterapia e Terapia Ocupacional, Programa de Pós Graduação em Ciências do Esporte, Belo Horizonte MG, Brasil;
Renata LF Passos

¹Universidade Federal de Minas Gerais, Escola de Educação Física, Fisioterapia e Terapia Ocupacional, Programa de Pós Graduação em Ciências do Esporte, Belo Horizonte MG, Brasil;
Juliana F de Souza

²Universidade Federal de Minas Gerais, Hospital das Clínicas, Centro de Referência em Neurofibromatoses, Belo Horizonte MG, Brasil.
Nilton A Rezende

²Universidade Federal de Minas Gerais, Hospital das Clínicas, Centro de Referência em Neurofibromatoses, Belo Horizonte MG, Brasil.
Luiz O. C. Rodrigues

¹Universidade Federal de Minas Gerais, Escola de Educação Física, Fisioterapia e Terapia Ocupacional, Programa de Pós Graduação em Ciências do Esporte, Belo Horizonte MG, Brasil;

²Universidade Federal de Minas Gerais, Hospital das Clínicas, Centro de Referência em Neurofibromatoses, Belo Horizonte MG, Brasil.

Abstract

ABSTRACT

Objective Neurofibromatosis type 1 (NF1) causes neural and cutaneous disorders and reduced exercise capacity. Exercise/heat exposure increasing internal temperature must be compensated by eccrine sweat function and warmed skin vasodilation. We suspected NF1 could adversely affect eccrine sweat function and/or vascular thermoregulatory responses (VTR).

Methods The eccrine sweat function and VTR of 25 NF1 volunteers (14 males, 11 females; 16–57 years old) were compared with 23 non-NF1 controls matched by sex, age, height and weight (CG). Sweating was induced by 1) pilocarpine 1% iontophoresis (PILO); and 2) by passive heating (HEAT) via the lower third of the legs being immersed in 42°C water for one hour. Previously established eccrine sweat function and VTR protocols were used.

Results The NF1 group showed: a) lower sweat rate than the CG group during PILO; b) a smaller diastolic pressure decrease; and c) higher tympanic temperatures than controls during HEAT (p < 0.05).

Conclusion Reduced sweating and vascular thermoregulatory responses suggest autonomic dysfunction in NF1 individuals.

RESUMO

Objetivo Neurofibromatose do tipo 1 (NF1) causa problemas neurais e cutâneos e diminuição da capacidade física. O aumento da temperatura interna durante exercício e exposição ao calor precisa ser compensada pela função sudorípara écrina (FSE) e aquecimento cutâneo por vasodilatação (RVT). Suspeitou-se clinicamente que a NF1 poderia prejudicar a FSE e a RVT.

Métodos A FSE e RVT de 25 voluntários com NF1 (14 homens, 11 mulheres; 16–57 anos) e de 23 sem-NF1, emparelhados por sexo, idade, estatura e peso corporal, foram medidas com protocolos validados anteriormente. A sudorese foi induzida por iontoforese com pilocarpina (PILO) e aquecimento passivo por imersão das pernas em água a 42°C durante uma hora (HEAT).

Resultados O grupo NF1 apresentou menor taxa de sudorese na situação PILO, menor redução da pressão diastólica e maior temperatura timpânica na situação HEAT (p < 0.05).

Conclusão As respostas sudorípara e vascular reduzidas sugerem disfunção autonçmica nas pessoas com NF1.

neurofibromatosis 1 - sweating - primary dysautonomias - body temperature regulation

neurofibromatose 1 - sudorese - disautonomia primária - regulação da temperatura corporal

Volltext

Referenzen

References
1 Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2007;44(2):81-8. doi:10.1136/jmg.2006.045906
2 Riccardi VM. Neurofibromatosis type 1 is a disorder of dysplasia: the importance of distinguishing features, consequences, and complications. Birth Defects Res A Clin Mol Teratol. 2010;88(1):9-14. doi:10.1002/bdra.20616
3 Rodrigues LOC, Batista PB, Goloni-Bertollo EM, Souza-Costa D, Eliam L, Eliam M et al. Neurofibromatoses: part 1 diagnosis and differential diagnosis. Arq Neuropsiquiatr. 2014;72(3):241-50. doi:10.1590/0004-282X20130241
4 Souza JF, Passos RL, Guedes AC, Rezende NA and Rodrigues LOC. Muscular force is reduced in neurofibromatosis type 1. J Musculoskelet Neuronal Interact. 2009;9(1):15-7.
5 Souza JF, Araújo CG, Rezende NA, Rodrigues LOC. Exercise capacity impairment in individuals with neurofibromatosis type 1. Am J Med Genet A. 2013;161A(2):393-5. doi:10.1002/ajmg.a.35729
6 Kenny GP, Yardley J, Brown C, Sigal RJ and Jay O. Heat stress in older individuals and patients with common chronic diseases. CMAJ 2010;182(10):1053-60. doi:10.1503/cmaj.081050
7 Gilsolfi CV, Mora F. The hot brain: survival, temperature and the human body. London: The Massachusetts Institute of Technology; 2000.
8 Shibasaki M, Wilson TE, Crandall CG. Neural control and mechanisms of eccrine sweating during heat stress and exercise. J Appl Physiol (1805). 2006;100(5):1692-701. doi:10.1152/japplphysiol.01124.2005
9 Madeira LG, Fonseca MA, Fonseca IA, Oliveira KP, Passos RL, Machado-Moreira CA et al. Sex-related differences in sweat gland cholinergic sensitivity exist irrespective of differences in aerobic capacity. Eur J Appl Physiol. 2010;109(1):93-100. doi:10.1007/s00421-009-1262-8
10 Davis SL, Wilson TE, White AT, Frohman EM. Thermoregulation in multiple sclerosis. J Appl Physiol (1985). 2010;109(5):1531-7. doi:10.1152/japplphysiol.00460.2010
11 Hoeldtke RD, Bryner KD, Horvath GG, Phares RW, Broy LF, Hobbs GR et al. Redistribution of sudomotor responses is an early sign of sympathetic dysfunction in type 1 diabetes. Diabetes 2001;50(2):436-43. doi:10.2337/diabetes.50.2.436
12 Rocha CM, Madeira LG, SÁ KR, Lopes LN, Albuquerque DP, Diniz LM et al. Diabetes mellitus tipo 1 na ausência de neuropatia autonçmica não altera a taxa de sudorese no exercício. Rev Bras Med Esporte. 2009;15(1):23-6. doi:10.1590/S1517-86922009000100005
13 Drouet A, Wolkenstein P, Lefaucheur JP, Pinson S, Combemale P, Gherardi RK et al. Neurofibromatosis 1-associated neuropathies: a reappraisal. Brain. 2004;127(9):1993-2009. doi:10.1093/brain/awh234
14 Ferner RE, Hughes RAC, Hall SM, Upadhyaya M, Johnson MR. Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). J Med Genet. 2004;41(11):837-41. doi:10.1136/jmg.2004.021683
15 Yerdelen D, Koc F, Durdu M, Karakas M. Electrophysiological findings in neurofibromatosis type 1. Neurol Sci. 2011;306(1-2):42-8. doi:10.1016/j.jns.2011.03.048
16 Kihara M, Opfer-Gehrking TL, Low PA. Comparison of directly stimulated with axon-reflex-mediated sudomotor responses in human subjects and in patients with diabetes. Muscle Nerve. 1993;16(6):655-60. doi:10.1002/mus.880160612
17 Chudnow RS, Wolfe GI, Sparagana SP, Delgado MR, Batchelor L, Roach ES. Abnormal sudomotor function in the hypomelanotic macules of tuberous sclerosis complex. J Child Neurol. 2000;15(8):529-32. doi:10.1177/088307380001500806
18 Orozco-Covarrubias ML, Ridaura C, Tamayo-Sánchez L, Durán-Mckinster C, Ruiz-Maldonado R. [Tuberous sclerosis. Early diagnosis with autonomic nervous system responses in hypopigmented skin]. Rev Invest Clin. 1994;46(5):349-54. Spanish.
19 Davis SL, Wilson TE, Vener JM, Crandall CG, Petajan JH, White AT. Pilocarpine-induced sweat gland function in individuals with multiple sclerosis. J Appl Physiol (1985). 2005;98(5):1740-4. doi:10.1152/japplphysiol.00860.2004
20 Facer P, Mathur R, Pandya SS, Ladiwala U, Singhal BS, Anand P. Correlation of quantitative tests of nerve and target organ dysfunction with skin immunohistology in leprosy. Brain. 1998;121(12):2239-47. doi:10.1093/brain/121.12.2239
21 Randall WC, Kimura KK. The pharmacology of sweating. Pharmacol Rev. 1955;7(3):365–97.
22 Kuno Y. Human perspiration. Springfield: Charles C. Thomas; 1956.
23 Maselli RA, Jaspan JB, Soliven BC, Green AJ, Spire JP, Arnason BG. Comparison of sympathetic skin response with quantitative sudomotor axon reflex test in diabetic neuropathy. Muscle Nerve. 1989;12(5):420-3. doi:10.1002/mus.880120513
24 Gibbons CH, Illigens BM, Wang N, Freeman R. Quantification of sweat gland innervation: a clinical-pathologic correlation. Neurology. 2009;72(17):1479-86. doi:10.1212/WNL.0b013e3181a2e8b8
25 Greenhaff PL, Clough PJ.. Predictors of sweat loss in man during prolonged exercise. Eur J Appl Physiol Occup Physiol. 1989;58(4):348-52. doi:10.1007/BF00643508
26 Buono MJ, White CS, Connolly KP. Cholinergic sensitivity of the eccrine sweat gland in trained and untrained men. J Dermatol Sci. 1992;4(1):33-7. doi:10.1016/0923-1811(92)90053-E
27 Kellogg DL Jr, Crandall CG, Liu Y, Charkoudian N, Johnson JM. Nitric oxide and cutaneous active vasodilation during heat stress in humans. J Appl Physiol (1985). 1998;85(3):824-9.
28 Charkoudian N. Skin blood flow in adult human thermoregulation: how it works, when it does not, and why. Mayo Clin Proc. 2003;78(5):603-12. doi:10.4065/78.5.603
29 Bruning RS, Santhanam L, Stanhewicz AE, Smith CJ, Berkowitz DE, Kenney WL et al. Endothelial nitric oxide synthase mediates cutaneous vasodilation during local heating and is attenuated in middle-aged human skin. J Appl Physiol (1985). 2012;112(12):2019-26. doi:10.1152/japplphysiol.01354.2011
30 Rodrigues LO, Rodrigues LO, Castro LL, Rezende NA, Ribeiro ALP. Non-invasive endothelial function assessment in patients with neurofibromatosis type 1: a cross-sectional study. BMC Cardiovasc Disord. 2013;13(1):18. doi:10.1186/1471-2261-13-18