Fernández-Barreiro A, Carmena Rodríguez R, Martínez Hernández P
Unidad Docente de Neurología, Hospital Universitario Virgen de la Arrixaca, Murcia.
Neurologia. 1993 Mar;8(3):99-104.
Forty-three cases of intermittent acute porphyria (IAP) in 19 families grouped along the riverside of the Segura River in the region of Murcia (1,000,000) were collected. Twenty nine cases had the typical clinical manifestations of the disease, 22 with analytic confirmation. Fourteen asymptomatic disease carriers were detected by determination of the uro-synthetase activity. Out of 22 hospitalized patients, 18 presented neurologic manifestations, 13 with polyneuropathy mainly of the proximal type. In some cases weakness extended distally. In the few cases in whom the polyneuropathy was initially distal there was never a Landry type of ascent. The most severe cases of polyneuropathy left characteristic sequelae in the hands.
在穆尔西亚地区（100万人口）沿塞古拉河河岸分布的19个家族中收集了43例间歇性急性卟啉病（IAP）病例。29例有该疾病的典型临床表现，22例经分析确诊。通过测定尿卟啉原合成酶活性检测出14例无症状疾病携带者。在22例住院患者中，18例有神经系统表现，13例有多发性神经病，主要为近端型。在某些病例中，无力向远端扩展。在少数最初为远端型多发性神经病的病例中，从未出现过Landry型上升。最严重的多发性神经病病例在手部留下了特征性后遗症。
