Klobucić Mislav, Sklebar Duska, Ivanac Renata, Vrabec Matković Dragica, Jug-Klobucić Anita, Sklebar Ivan
Department of Internal Medicine, General Hospital Bjelovar, Croatia.
Med Glas (Zenica). 2011 Aug;8(2):298-300.
Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder of heme biosynthesis in liver due to deficiency of porphobilinogen deaminase enzyme. Clinically, AIP is dominated by a colicky type pain, which does not subside after taking usual analgesics. Additional frequent symptoms are vomiting, hypertension, peripheral neuropathy, seizures, depression, delirium and coma. This paper reported a case of a twenty-five- year-old female patient, who had undergone a period of six days between the first presentation to the medical department and the diagnosis confirmation. It has accentuated possible mistakes in symptomatic therapy administration as well as dangers of a delayed diagnosis.
急性间歇性卟啉病（AIP）是一种罕见的常染色体显性遗传性疾病，由于胆色素原脱氨酶缺乏，导致肝脏血红素生物合成障碍。临床上，AIP以绞痛样疼痛为主，服用常规镇痛药后疼痛不缓解。其他常见症状包括呕吐、高血压、周围神经病变、癫痫发作、抑郁、谵妄和昏迷。本文报告了一例25岁女性患者，从首次到内科就诊到确诊历时6天。这突出了对症治疗中可能出现的错误以及延迟诊断的风险。
