Sandberg S, Brun A, Larsen S, Nyfors A, Nyfors B
Laboratorium for klinisk biokjemi, Haukeland sykehus, Bergen.
Tidsskr Nor Laegeforen. 1990 Mar 30;110(9):1082-4.
In Norway, the most common porphyrias are acute intermittent porphyria and porphyria cutanea tarda. We describe the first case of porphyria variegata in this country. The patient showed symptoms of the skin and had no abdominal discomfort. Her family was also evaluated and two other persons were found with suspected latent porphyria variegata. We discuss the main symptoms of this type of porphyria and the possibilities of treatment. We emphasize that examination of porphyrins in the feces of patients with porphyria variegata is essential for the diagnosis.
在挪威,最常见的卟啉病是急性间歇性卟啉病和迟发性皮肤卟啉病。我们描述了该国首例杂合性卟啉病病例。该患者出现皮肤症状,无腹部不适。我们还对其家族进行了评估,发现另外两人疑似患有潜伏性杂合性卟啉病。我们讨论了这类卟啉病的主要症状及治疗可能性。我们强调,对杂合性卟啉病患者粪便中的卟啉进行检测对诊断至关重要。