Poh-Fitzpatrick M B, Zaider E, Sciales C, Sokol R J, Tobin C E, Knobler E, Sadick N S, Silverberg M, Levy J
Department of Dermatology, New York Medical College, Valhalla.
Gastroenterology. 1990 Sep;99(3):831-5. doi: 10.1016/0016-5085(90)90976-8.
Porphyria cutanea tarda-like blistering, fragility, and scarring of light-exposed skin was observed in four children with the Alagille syndrome. Abnormally elevated levels of serum porphyrins, of which coproporphyrin isomers I and III together accounted for 50%-89% of the total, were found in these four children but also in three other children with the Alagille syndrome without such skin lesions. The ratio for isomer I to III for total serum coproporphyrin concentration was determined in six cases; the concentration of isomer I was greater than or equal to that of isomer III in each case. Urinary total porphyrin excretion was found to be elevated in six of the seven cases, with 72% +/- 8% occurring as coproporphyrins I and III. The ratio for urinary coproporphyrin I to III was greater than or equal to 1 in six of these patients, the reverse of the typical normal isomer distribution. Inasmuch as the presence or absence of photocutaneous lesions did not correlate with levels of porphyrins in serum or urine, other factors may be involved in the pathogenesis of the skin lesions.
在4名患有阿拉吉列综合征的儿童中，观察到迟发性皮肤卟啉症样的水疱、皮肤脆性增加和光暴露皮肤瘢痕形成。这4名儿童以及另外3名患有阿拉吉列综合征但无此类皮肤病变的儿童，均发现血清卟啉水平异常升高，其中粪卟啉异构体I和III合计占总量的50%-89%。测定了6例患者血清总粪卟啉中异构体I与III的比例；每例患者中异构体I的浓度均大于或等于异构体III的浓度。7例患者中有6例尿总卟啉排泄升高，其中72%±8%为粪卟啉I和III。这些患者中有6例尿粪卟啉I与III的比例大于或等于1，这与典型的正常异构体分布相反。由于光皮肤病变的有无与血清或尿液中卟啉水平无关，因此皮肤病变的发病机制可能涉及其他因素。
