Idiopathic hyperCKemia and malignant hyperthermia susceptibility

Idiopathic hyperCKemia and malignant hyperthermia susceptibility

Author Santos, Joilson M. Google Scholar
Andrade, Pamela V. Autor UNIFESP Google Scholar
Galleni, Leonardo Google Scholar
Vainzof, Mariz Google Scholar
Sobreira, Claudia F. R. Google Scholar
Schmidt, Beny Autor UNIFESP Google Scholar
Oliveira, Acary S. B. Autor UNIFESP Google Scholar
Amaral, Jose L. G. Autor UNIFESP Google Scholar
Silva, Helga C. A. Autor UNIFESP Google Scholar
Abstract HyperCKemia is a persistent rise in serum creatine kinase (CK) levels of at least 1.5 times the normal value, as evidenced by a minimum of two measurements at 30-day intervals. One of the neuromuscular diseases associated with hyperCKemia is malignant hyperthermia (MH). This study investigated the susceptibility to MH in patients with hyperCKemia via in vitro contracture testing (IVCT) and a search of mutations in the RYR1 gene. Patients in an MH centre were followed from 1997-2012, and their epidemiologic, clinical, and laboratory data were analyzed, including IVCT, muscle histochemical analysis, and next-generation sequencing molecular analysis. There were nine patients (eight male) in our study with a mean (SD) age of 33 (12) yr. Four patients were Caucasian and five were African Brazilian. Most complained about myalgia or cramps, but all had a normal neurological examination. They persistently presented with hyperCKemia from three months to ten years, with a mean (SD) CK value of 788 (507) IU center dot L-1 ranging from 210-1,667 IU center dot L-1. These values corresponded to a 1.5- to nine-fold increase in the normal value (mean increase, 3.7-fold). Six patients were MH susceptible (MHS) after a positive IVCT. Histopathological muscular analysis disclosed unspecified changes in four of the MHS patients. Mitochondrial proliferation was observed in the other two MHS patients and in three MH negative patients. No pathogenic mutations were identified in the RYR1 gene in the five patients evaluated. When investigating patients with idiopathic hyperCKemia, susceptibility to MH should be taken into account, and guidance should be offered to prevent anesthetic complications in the family.
xmlui.dri2xhtml.METS-1.0.item-coverage New York
Language English
Sponsor FAPESP (Fundacao de Auxilio a Pesquisa do Estado de Sao Paulo)
FAPESP-CEPID (Fundacao de Auxilio a Pesquisa do Estado de Sao Paulo - Centro de Pesquisa, Inovacao e Difusao)
CNPq-INCT (Conselho Nacional de Desenvolvimento Cientifico e Tecnologico - Instituto Nacional de Ciencia e Tecnologia)
Grant number FAPESP: 96/2222-3
Date 2017
Published in Canadian Journal Of Anesthesia-Journal Canadien D Anesthesie. New York, v. 64, n. 12, p. 1202-1210, 2017.
ISSN 0832-610X (Sherpa/Romeo, impact factor)
Publisher Springer
Extent 1202-1210
Access rights Closed access
Type Article
Web of Science ID WOS:000414996400006

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