Speedy identification of inherited metabolic diseases in emergency and critical care center / 中国小儿急救医学

Acute severe manifestations of inherited metabolic diseases include disorders of the intoxication,disorders with disturbed energy metabolism and disorders of neurotransmission.Therefore,early diagnosis and treatment must be initiated in order to decrease risk of mental injury and damages or acute death.Emergency treatment need speedy diagnosis of inherited metabolic diseases and diagnostic emergency first line laboratory evaluation should cover all differential diagnosies.All of the first line laboratory results are indispensable for planning and conducting the first steps of metabolic emergency treatment and should be available within 30 min.According to the clinical situation and biochemical derangement,secondary special metabolic investigations must be initiated in parallel.The results of all laboratory investigations relevant to the diagnosis of metabolic disorders for which specific emergency therapy exists should be available within 24 h.

Crise hipercalcêmica / Hypercalcemic crisis

Hipercalcemia é um problema clínico relativamente comum. Pode estar associada a um amplo espectro de manifestações clínicas, variando de poucos sintomas se a hipercalcemia for leve e/ou crônica para coma se for severa e/ou aguda. Relataremos o caso de uma paciente de 36 anos trazida ao pronto-socorro, com história de alteração do nível de consciência nas últimas 48 horas. Dentre outras alterações laboratoriais, apresentava cálcio sérico de 17,8 mg por decilitro. Apesar do tratamento, nossa paciente evoluiu ao óbito e o anatomopatológico post-mortem revelou hipercelularidade da medula óssea, compatível com mieloma múltiplo...