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HISTORY

In 1874, Schultz described a man with a history of cutaneous photosensitivity, accompanied by the excretion of wine-red urine. Subsequently, Baumstark detected urinary pigments, which he named “urorubrohaematin” and “urofuscohaematin”. Günther established the first classification of the porphyrias in 1911, recognizing them as hereditary metabolic disorders characterized by increased porphyrin excretion. He distinguished between two different forms: (1) haematoporphyria acuta, characterized by acute neurovisceral attacks without skin lesions; and (2) haematoporphyria congenita and chronica, both disorders having cutaneous findings in sun-exposed areas of the body. In 1937, the terms “acute intermittent porphyria” and “porphyria cutanea tarda” were introduced. Over the next four decades, variegate porphyria (in 1953), hereditary coproporphyria (in 1955), erythropoietic protoporphyria (in 1961), hepatoerythropoietic porphyria (in 1969), and δ-aminolevulinic acid (ALA) dehydratase deficiency porphyria (in 1979) were described. Most recently, X-linked dominant protoporphyria was recognized.