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迟发性皮肤卟啉症的早期形式。关于2例伴有家族性酶缺乏研究及遗传传递方式定义的病例

[Early forms of porphyria cutanea tarda. Apropos of 2 cases with a study of familial enzymatic deficiency and definition of the mode of genetic transmission].

作者信息

Herrero C, Muniesa A M, Lecha M, Elder G H, Mascaro J M

出版信息

Ann Dermatol Venereol. 1984;111(11):973-8.

PMID:6524816
Abstract

The authors report two cases of cutaneous porphyria in children aged 6 and 9 respectively. The clinical and biochemical patterns were similar to those of porphyria cutanea tarda. The manifestations were drug-induced in both cases (by sulfonamides and griseofulvin in the first patient, and by hydantoin and benzodiazepine in the second). The clinical examination and the determination of porphyrins in the relatives showed no abnormalities. However, the study of the erythrocyte uroporphyrinogen decarboxylase showed 50 p. 100 reduced activity in the father and grandfather of the first patient, and in the second case's mother. Treatment with chloroquine (3 mg/kg/week) produced the total remission of both cases with no recurrences in 4 and 2 years respectively.

摘要

作者分别报告了两例6岁和9岁儿童的皮肤卟啉病病例。临床和生化模式与迟发性皮肤卟啉病相似。两例均由药物诱发(第一例患者由磺胺类药物和灰黄霉素诱发,第二例由乙内酰脲和苯二氮䓬诱发)。对亲属进行的临床检查和卟啉测定未发现异常。然而,对红细胞尿卟啉原脱羧酶的研究显示,第一例患者的父亲和祖父以及第二例患者的母亲的酶活性降低了50%。用氯喹(3毫克/千克/周)治疗使两例均完全缓解,分别在4年和2年内无复发。

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[Porphyria cutanea tarda].
Ann Dermatol Venereol. 1987;114(8):1023-6.

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