RESUMO
OBJECTIVE: We report a rare, silent, potentially fatal operative complication of seven hour apnoea in a patient undergoing adenotonsillectomy secondary to deficiency of plasma cholinesterase. Awareness of this hereditary disorder is important to otolaryngologist as; it is difficult to diagnose, can be unexpectedly alarming for parents and the surgeon. METHODS: Case report and review of world literature. RESULTS: A four-year male with obstructive sleep apnoea underwent a routine elective adenotonsillectomy; there was no spontaneous recovery of respiration following surgery. He was transferred to the intensive care unit and 7 h later was successfully weaned from the ventilator and extubated. A plasma cholinesterase level of 456 1U/L was discovered much later. CONCLUSION: To our knowledge this is the first case report of pseudo cholinesterase deficiency reported in otolaryngology literature and first in Oman. The patient should receive information about the condition, the associated risks, inheritance and need for testing other family members.
Assuntos
Adenoidectomia/métodos , Apneia/etiologia , Hipersensibilidade a Drogas/complicações , Complicações Pós-Operatórias/etiologia , Tonsilectomia/métodos , Adenoidectomia/efeitos adversos , Apneia/fisiopatologia , Apneia/terapia , Butirilcolinesterase/deficiência , Pré-Escolar , Colinesterases/deficiência , Hipersensibilidade a Drogas/diagnóstico , Seguimentos , Humanos , Unidades de Terapia Intensiva Pediátrica , Masculino , Erros Inatos do Metabolismo , Complicações Pós-Operatórias/sangue , Doenças Raras , Respiração Artificial , Medição de Risco , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/cirurgia , Fatores de Tempo , Tonsilectomia/efeitos adversos , Resultado do TratamentoRESUMO
BACKGROUND: Congenital pseudocholinesterase (pChe) deficiency is a rare genetic abnormality which may lead to prolonged duration of action of muscle relaxants that are hydrolysed by pChe. We describe two cases in which mivacurium resulted in neuromuscular block lasting several hours. CASE REPORTS: Two non-related male patients, aged 26 and 7 years, scheduled for elective ENT surgery, received propofol, desflurane, remifentanil and mivacurium. At the end of the surgery it was not possible to reverse the neuromuscular blockade, and there were no responses to TOF or post-tetanic stimulation. Neuromuscular transmission returned spontaneously after 7, and 4 h, respectively. Postoperative assay revealed severe pChe deficiency in both patients, with values of 3393 UL(-1)and 2558 UL(-1), respectively (normal range 5100-11700 UL(-1). Family screening confirmed the presence of pChe deficiency in both cases. CONCLUSION: In any case of unexpected prolonged muscle relaxation after mivacurium, pChe deficiency should be considered and its activity measured.When confirmed, careful family screening is mandatory.
Assuntos
Anestesia/efeitos adversos , Bloqueio Neuromuscular/efeitos adversos , Fármacos Neuromusculares não Despolarizantes/efeitos adversos , Adulto , Período de Recuperação da Anestesia , Anestesia Obstétrica/efeitos adversos , Apneia , Butirilcolinesterase/deficiência , Colinesterases/sangue , Colinesterases/deficiência , Hipersensibilidade a Drogas/sangue , Hipersensibilidade a Drogas/congênito , Humanos , Isoquinolinas/efeitos adversos , Masculino , Erros Inatos do Metabolismo , Mivacúrio , Paralisia/induzido quimicamenteRESUMO
The practice of anesthesia has long been considered an art and a science, with interpatient variability in drug response being the rule, rather than the exception. Pharmacogenomics, which studies the role of genetics in drug response, is emerging as a discipline that may impact anesthetic management. The purpose of this review is to provide clinicians with basic knowledge related to pharmacogenomics and its implications in anesthesia. This review focuses on pharmacogenomics related to commonly used drugs in anesthesia. Pharmacogenomics as a predictor of drug response is increasingly used in medicine and drug development. By expanding the knowledge base of anesthesia providers, pharmacogenomic considerations have the potential to improve therapeutic outcomes and individualize drug therapy, while avoiding toxic effects and treatment failure. However, because pharmacogenomics may not fully explain variability in drug response, implementation should be in conjunction with traditional anesthesia considerations.
Assuntos
Anestésicos/farmacologia , Farmacogenética , Polimorfismo Genético , Analgésicos/farmacologia , Anestésicos/efeitos adversos , Anestésicos/farmacocinética , Apneia , Butirilcolinesterase/deficiência , Colinesterases/deficiência , Colinesterases/genética , Sistema Enzimático do Citocromo P-450/genética , Hipersensibilidade a Drogas/genética , Humanos , Hipertermia Maligna/genética , Erros Inatos do Metabolismo , Náusea e Vômito Pós-Operatórios/induzido quimicamente , Náusea e Vômito Pós-Operatórios/genéticaRESUMO
Recent evidence strongly demonstrates that acetylcholine (ACh) is not only involved in the function of the central and peripheral nervous systems, including the parasympathetic and somatic systems, but also acts as a ubiquitous cell signaling molecule or cytotransmitter, and as a hormone with paracrine, juxtacrine and autocrine properties. This active molecule exerts versatile and potent functions primarily through its specific nicotinic and muscarinic receptors (nAChRs and mAChRs, respectively). These functions modulate numerous biomechanisms, including cell growth, survival, proliferation and differentiation, cell-cell contact, cell cycle, locomotion, electrical activity, immune function, apoptosis, organization of the cytoskeleton, trophic functions, secretion, adhesion, resorption, and stress-response-regulation. By nature, the precise ACh levels and responses from receptors must be controlled and regulated by its degrading enzymes, the cholinesterases (ChEs), namely, acetylcholinesterase (AChE) and butyrylcholinesterase (BChE). Once ChEs become critically deficient in quality and quantity, ACh signaling will be uncontrollably aberrant and persistent. An in-depth account of the fundamental roles of ChEs, comprising their diverse soluble and membrane-bound forms, in maintaining the functional equilibrium of ACh in the macro and microenvironment has been undertaken. This work also covers ACh receptors, signaling pathways, other interdependent and interrelated substances, functional processes, role of ChEs as first-line gatekeepers and defenses for the architecture of cells, tissues and organisms, physically, chemically, and structurally. The mechanisms of many diseases ranging from the acute cholinergic crisis to the chronic degenerative and hypergenerative disorders such as Alzheimer's disease, cancers, atopic dermatitis, may involve a deficiency of ChEs or imbalance between ACh and ChEs, initially or consequentially. It is therefore essential to ascertain a ChE deficiency, or an imbalance between ACh and ChEs, in tissues and body fluids in order for conducting clinical diagnosis, prevention and treatment. An argument is put forward on the rationale of applying exogenous human ChEs to reverse enzymatic deficiency and correct the imbalance between ACh and ChEs, to repair the affected receptors and protect against their further loss in the body, and consequently to alleviate the signs and symptoms of diseases. Evidence is adduced for the safety and efficacy of ChEs treatment.
Assuntos
Colinesterases/deficiência , Colinesterases/uso terapêutico , Doença Crônica , Deficiências Nutricionais/enzimologia , Receptores Colinérgicos/fisiologia , Acetilcolina/metabolismo , Doença de Alzheimer/enzimologia , Doença de Alzheimer/etiologia , Doença de Alzheimer/fisiopatologia , Animais , Colina O-Acetiltransferase/metabolismo , Colinesterases/metabolismo , Dermatite Atópica/etiologia , Humanos , Modelos Animais , Neoplasias/etiologia , Fatores de RiscoRESUMO
We report a case of difficult intubation in a child with Goldenhar syndrome and atypical plasma cholinesterase. Intubation attempts by direct laryngoscopy and the Trachlight were unsuccessful. The airway was ultimately secured using the pediatric GlideScope in conjunction with external laryngeal manipulation.
Assuntos
Colinesterases/sangue , Colinesterases/deficiência , Síndrome de Goldenhar/complicações , Intubação Intratraqueal/instrumentação , Obstrução das Vias Respiratórias/complicações , Anestesia Geral/métodos , Criança , Desbridamento/métodos , Orelha/cirurgia , Feminino , Humanos , Doenças Raras , Extração Dentária/métodosRESUMO
We experienced an accidental use of suxamethonium for general anesthesia in a 26-year-old woman with hereditary hypocholinesterasemia that had not been recognized preoperatively. The patient was scheduled for total colectomy as her chronic ulcerative colitis could not be controlled with medications. Routine preoperative screening such as blood cell counts, biochemical data, chest x-ray and electrocardiogram were performed but serum cholinesterase (ChE) activity was not measured. As the preoperative patient condition was good with no abnormal history, anesthesia was induced and maintained with propofol, ketamine and fentanyl as usual. For muscle relaxation, suxamethonium was used for tracheal intubation, and vecuronium was used for the maintenance. After surgery, postanesthetic course was uneventful. One year later, as the patient was pregnant and scheduled for cesarean section, the preoperative screening was done. The biological data showed a hypocholinesterasemia without liver dysfunction. Thus, previous medical records of internal medicine were cheked. Surprisingly the record showed hypocholinesterasemia when she was 15 and 21 years of ages. However, as the physicians did not recognize hypocholinesterasemia, they did not inform the patient of it. Why did the patient have no prolonged apnea and emergence after the previous anesthesia? As the surgical time was exceeded 4 hrs, plasma suxamethonium could fortunately be less than its effective concentration at emergence. However, this case strongly suggests us that preoperative screening should be done without any omission. In addition, if serum ChE activity is not examined, use of suxamethonium should be avoided.
Assuntos
Anestesia Geral , Colinesterases/deficiência , Doenças Genéticas Inatas , Cuidados Pré-Operatórios , Succinilcolina , Adulto , Apneia/induzido quimicamente , Cesárea , Doença Crônica , Colectomia , Colite Ulcerativa/cirurgia , Contraindicações , Feminino , Doenças Genéticas Inatas/diagnóstico , Humanos , Gravidez , Succinilcolina/sangueRESUMO
JUSTIFICATIVA E OBJETIVOS: A plasmaféresis é a técnica de tratamento de escolha para pacientes com anemia hemolítica grave. Uma de suas conseqüências é a depleção de colinesterase plasmática, o que interfere na metabolização de alguns bloqueadores neuromusculares de uso corrente na prática anestesiológica. RELATO DO CASO: Paciente com 26 anos, estado físico ASA IV, gestação de 30 semanas e 3 dias, portadora de anemia falciforme, traço talassêmico e alo-imunização para antígenos de alta freqüência. Apresentou crise de falcização, sendo transfundida com derivado sangüíneo incompatível. Evoluiu com hemólise maciça, sendo admitida com hemoglobina de 3 g/dL e hematócrito de 10 por cento, icterícia intensa, taquicardia, apatia e descoramento. Na avaliação hematológica concluiu-se ser situação de inexistência de sangue compatível para transfusão. Foi tratada com corticoterapia, imunoglobulinas e plasmaféresis. No segundo dia de internação, evoluiu com insuficiência renal aguda e edema pulmonar agudo, piora do estado geral e instabilidade hemodinâmica. Indicada a resolução da gestação em decorrência do quadro clínico da paciente e do sofrimento fetal agudo que se sobrepôs. A paciente foi admitida na sala de operações consciente, dispnéica, pálida, ictérica, SpO2 de 91 por cento em ar ambiente, freqüência cardíaca de 110 bpm e pressão arterial de 110 x 70 mmHg, em uso de dopamina (1 æg.kg-1.min-1) e dobutamina (10 æg.kg-1.min-1). Optou-se por anestesia geral balanceada, com alfentanil (2,5 mg), etomidato (14 mg) e atracúrio (35 mg) e isoflurano. Não se observou intercorrências anestésico-cirúrgicas. Ao final, a paciente foi encaminhada à UTI, sob intubação orotraqueal, e em uso de drogas vasoativas, tendo sido extubada após 3 horas. CONCLUSÕES: Este caso mostrou-se um desafio para a equipe, visto que a paciente apresentava instabilidade hemodinâmica e alteração do coagulograma, condições que contra-indicam a anestesia regional; além disto, a plasmaféresis potencialmente depleta os estoques de colinesterases plasmáticas, o que interfere na anestesia. Entretanto, o arsenal medicamentoso disponível permitiu o manuseio seguro desta situação.
Assuntos
Feminino , Adulto , Humanos , Anestesia Obstétrica , Anemia Falciforme/complicações , Colinesterases/deficiência , Colinesterases/sangue , Complicações Hematológicas na Gravidez/terapia , Plasmaferese , GravidezRESUMO
OBJECTIVE: To present a case of unexpected prolonged apnoea following the administration of mivacurium, a short-acting muscle relaxant and to identify the factors for early diagnosis and management. CLINICAL PRESENTATION AND INTERVENTION: A 19-year-old physically fit lady without personal or family history suggestive of anaesthetic problems had an excision of fibro-adenoma from the breast. She did not recover as quickly as was expected from the anaesthetic, which included the administration of mivacurium. She had prolonged neuromuscular blockade. She was kept ventilated and sedated. Five hours after the last dose of mivacurium, she showed signs of spontaneous respiration and at 6 h she was extubated and fully recovered. It was shown later that the patient had a pseudocholinesterase deficiency. CONCLUSION: Pseudocholinesterase deficiency is an uncommon occurrence but should be highly suspected in cases of prolonged paralysis following the administration of a short-acting muscle relaxant. The use of a nerve stimulator is recommended whenever muscle relaxants are used. Muscle relaxants should be used only when facilities for prolonged ventilation are available.
Assuntos
Anestesia/efeitos adversos , Apneia/induzido quimicamente , Isoquinolinas/efeitos adversos , Bloqueio Neuromuscular/efeitos adversos , Fármacos Neuromusculares não Despolarizantes/efeitos adversos , Paralisia/induzido quimicamente , Adulto , Neoplasias da Mama/cirurgia , Colinesterases/sangue , Colinesterases/deficiência , Feminino , Fibroadenoma/cirurgia , Humanos , MivacúrioAssuntos
Colinesterases/deficiência , Isoquinolinas/efeitos adversos , Bloqueio Neuromuscular , Fármacos Neuromusculares não Despolarizantes/efeitos adversos , Complicações Pós-Operatórias/induzido quimicamente , Adenoidectomia , Adulto , Criança , Colinesterases/genética , Feminino , Predisposição Genética para Doença , Homozigoto , Humanos , Isoquinolinas/farmacocinética , Masculino , Mivacúrio , Fármacos Neuromusculares não Despolarizantes/farmacocinética , Complicações Pós-Operatórias/etiologiaRESUMO
A family with serum cholinesterase (SChE) deficiency is reported. A 64-year-old woman was admitted for the excision of colon adenoma; her laboratory data revealed a markedly decreased level of SChE. SChE genes of the patient and her family members were amplified by the polymerase chain reaction (PCR) and analyzed by direct sequencing. The patient's SChE gene had a homozygous frame shift mutation, in which an extra adenine was inserted in codon 315 (ACC-->AACC), resulting in the appearance of a new stop codon in codon 322. The family study disclosed that her brother and sister had the same frame shift mutations in homozygote and heterozygote, respectively.
Assuntos
Colinesterases/deficiência , Mutação da Fase de Leitura/genética , Erros Inatos do Metabolismo/genética , Sequência de Bases , Colinesterases/genética , DNA/análise , Feminino , Humanos , Pessoa de Meia-Idade , Dados de Sequência Molecular , LinhagemRESUMO
A 47-year-old woman who was homozygous for a silent cholinesterase gene (hereditary serum cholinesterase deficiency) presented with nephrotic syndrome and hyperlipidemia. Renal biopsy performed in 1986 demonstrated mesangial proliferative glomerulonephritis. Four years later, a second biopsy revealed progression with mesangial interpositions and severe lipid deposition in the glomeruli, tubules and interstitium. This is the first case of hereditary serum cholinesterase deficiency accompanied by renal disease. Serum cholinesterase deficiency may be related to hyperlipidemia and abnormal lipid deposition in the kidney, which promotes the progression of renal disease.
Assuntos
Colinesterases/deficiência , Glomerulonefrite Membranoproliferativa/patologia , Hiperlipidemias/patologia , Adolescente , Adulto , Feminino , Mesângio Glomerular/metabolismo , Mesângio Glomerular/patologia , Glomerulonefrite Membranoproliferativa/etiologia , Glomerulonefrite Membranoproliferativa/metabolismo , Humanos , Hiperlipidemias/complicações , Hiperlipidemias/metabolismo , Masculino , Pessoa de Meia-IdadeRESUMO
We report two patients with the Churg-Strauss syndrome who were found to have decreased cholinesterase activity despite normal phenotypes. Suspicion of abnormal sensitivity to suxamethonium in the first case was raised after prolonged paralysis under anaesthesia. The findings in the second were incidental during the course of intensive care treatment. Both patients received immunosuppressive therapy. Differentiation between the effects of this and the disease process itself cannot be established.
Assuntos
Colinesterases/deficiência , Síndrome de Churg-Strauss/enzimologia , Adulto , Colinesterases/genética , Síndrome de Churg-Strauss/terapia , Hipersensibilidade a Drogas/etiologia , Família , Feminino , Genótipo , Humanos , Imunossupressores/efeitos adversos , Masculino , Pessoa de Meia-Idade , Succinilcolina/efeitos adversosRESUMO
A patient with myasthenia receiving treatment with anticholinesterase agents and plasma exchanges for an acute episode, developed three successive periods of neurological deterioration during which plasma cholinesterase levels were determined. The risk of onset of a cholinergic crisis under these circumstances has been reported in the literature but not documented. The accidents in the present case were related to cumulative overdose effects of anticholinesterase agents and depletion of cholinesterase, suggesting caution in the use of anticholinesterase agents when frequent plasma exchanges are being carried out in a patient with myasthenia.
Assuntos
Cloreto de Ambenônio/intoxicação , Colinesterases/sangue , Miastenia Gravis/terapia , Troca Plasmática , Colinesterases/deficiência , Humanos , Masculino , Metilprednisolona/uso terapêutico , Pessoa de Meia-Idade , Miastenia Gravis/tratamento farmacológicoRESUMO
One case of pseudo-acholinestrasemia was experienced in our hospital. The patient was a 54-year-old female with sigmoid colon cancer. A preoperative examination showed that her cholinesterase (ChE) level was 7 IU/L (normal range: 3,700-5,400 IU/L) although no abnormalities were found in other enzymes derived from the liver, total protein and albumin level in the serum. An investigation of eight family members over two generations revealed two cases of acholinesterasemia in addition to the patient. Immunological examination by Ouchterlony's method and isoenzyme analysis by polyacrylamide gel electrophoresis showed that ChE production was absent in this case, while dibucaine or fluoride number was normal among the family members. Based on these results, it was concluded that this patient belonged to the silent type of homozygote. A case of pseudo-acholinesterasemia, which is very rare in Japan, is described.
Assuntos
Colinesterases/deficiência , Transfusão de Sangue , Colinesterases/sangue , Colinesterases/genética , Eletroforese em Gel de Poliacrilamida , Feminino , Genótipo , Humanos , Imunodifusão , Isoenzimas/sangue , Fígado/enzimologia , Pessoa de Meia-Idade , Linhagem , Neoplasias do Colo Sigmoide/cirurgiaRESUMO
Cholinesterase deficiency is a relatively rare condition. However, if unrecognized, this condition can be potentially fatal. The authors present a case report of cholinesterase deficiency and a review of the literature. Discussion of the preoperative evaluation and preventive measures is also included.