Assuntos
Neuropatias Hereditárias Sensoriais e Autônomas/diagnóstico , Neuropatias Hereditárias Sensoriais e Autônomas/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Proteínas de Membrana/genética , Mutação/genética , Úlcera Cutânea/etiologia , Adulto , Doença Crônica , Neuropatias Hereditárias Sensoriais e Autônomas/complicações , Humanos , Masculino , LinhagemRESUMO
OBJECTIVE: Erythromelalgia is highly disabling and treatment is often very challenging. There have been solitary case reports that it might benefit from sympathectomy. This study sought to evaluate the short-term and long-term efficacy of chemical lumbar sympathectomy (CLS) for treatment of recalcitrant erythromelalgia and try to identify a CLS-responsive subset. METHODS: Patients with recalcitrant erythromelalgia were recruited from a tertiary hospital over a 10-year period. L3 to L4 CLS was performed using 5% phenol. The pain intensity score (visual analog scale [VAS] 0-10) was assessed before CLS and at 1 day, 1 week, 3 months, 6 months, 1 year, and 2 years after CLS. A VAS decrease of 90%-100% is defined as complete response, 60%-89% as major partial response. Relapse was defined by a return of a VAS score of 5 or higher. SCN9A gene mutations were screened. RESULTS: Thirteen patients were enrolled, with a median age of 15 years. The mean follow-up was 6.2 ± 3.8 years. SCN9A gene mutation was identified in five patients having family histories. The VAS was 8.2 ± 2.0 at baseline; it decreased to 4.9 ± 2.7 at 1 day and 1.9 ± 3.0 at 1 week after CLS. Nine patients (69.2%) achieved complete response at 1 week after CLS, including three patients with SCN9A gene mutation. Among the three complete response patients having the gene mutation, two reverted to major partial response and one relapsed at 2 years after CLS. Among the six complete response patients without mutation, five maintained complete response and one relapsed. Among the four patients who did not achieve complete response, one patient died at 3.5 months and one patient had an amputation performed at 4 months after CLS. CONCLUSIONS: CLS provides a valid option for the treatment of recalcitrant erythromelalgia. It takes about 1 week to achieve full efficacy. Relapse may occur, especially in patients with an SCN9A gene mutation.
Assuntos
Eritromelalgia/terapia , Vértebras Lombares/inervação , Simpatectomia Química/métodos , Adolescente , Amputação Cirúrgica , Criança , Análise Mutacional de DNA , Eritromelalgia/diagnóstico , Eritromelalgia/genética , Eritromelalgia/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Canal de Sódio Disparado por Voltagem NAV1.7/genética , Medição da Dor , Estudos Prospectivos , Recidiva , Indução de Remissão , Simpatectomia Química/efeitos adversos , Fatores de Tempo , Resultado do Tratamento , Adulto JovemAssuntos
Proteínas da Matriz Extracelular/genética , Deleção de Genes , Predisposição Genética para Doença , Proteinose Lipoide de Urbach e Wiethe/genética , Mutação de Sentido Incorreto , RNA Longo não Codificante/genética , China , Códon sem Sentido , Homozigoto , Humanos , Proteinose Lipoide de Urbach e Wiethe/diagnóstico , Masculino , Linhagem , Prognóstico , Medição de Risco , Adulto JovemRESUMO
OBJECTIVE: To analyze the clinical features and gene mutation of a patient with dyskeratosis congenita, who was admitted in our hospital for thrombocytopenia. METHOD: The clinical and laboratory data of a 4 years and 10 months old boy were summarized. DKC1 gene was analyzed using PCR amplification and DNA sequencing. RESULT: The age of onset of the boy was 1 year. He presented with abnormal cutaneous pigmentation, nail dystrophy and mucosal leukoplakia accompanied by multi-system abnormalities. DKC1 (1058C-T, A353V) was detected in the patient. CONCLUSION: The patient presented with classical features of dyskeratosis congenita and DKC1 (1058C-T, A353V) did exist in this patient. X-linked recessive dyskeratosis congenita was confirmed.
