The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria.
The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria.
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DOI：
10.1016/j.jdcr.2017.01.025
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发表时间：
2017-05
影响因子：
--
通讯作者：
Shimizu T
中科院分区：
文献类型：
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作者：
Mizawa M;Makino T;Furukawa F;Torai R;Nakano H;Sawamura D;Shimizu T
讨论该患者在7岁时有氟细胞、PP水平升高和FECH基因突变；然而，患者最初在13岁时出现光敏反应。我们将这种没有任何临床症状的EPP称为无症状EPP。我们检测了静止期的PP水平。有趣的是，PP水平在9岁时最高，尽管患者当时并未出现光敏反应。这一发现表明，EPP症状的出现可能不一定取决于PP水平，正如该患者的进展和她的PP水平所证明的那样。虽然EPP症状发生的确切机制尚不清楚，但只有少数报告的成人发病的EPP病例带有FECH基因突变。6、7这些报告表明，晚发性EPP患者在中年时在热带气候的强光照射下出现了光敏反应，尽管他们在北欧时没有经历过这种症状，而且只暴露在微弱的阳光下。6、7因此，日照剂量可能在诱发EPP症状中起重要作用。在这位患者中，避免日光照射可能延迟了EPP的发病。此外，据报道，月经有时与EPP症状的恶化有关。8该患者在13岁时第一次月经；因此，这可能与EPP的发病有关。
DiscussionThis patient had fluorocytes, an increased PP level, and a FECH gene mutation when she was 7 years old; however, the patient's photosensitivity initially appeared at 13 years of age. We refer to this condition without any clinical symptoms of EPP as silent EPP. We examined the PP level during the period of silent EPP. Interestingly, the PP level was the highest at 9 years of age, although the patient's photosensitivity did not appear at the time. This finding suggests that the onset of EPP symptoms may not necessarily depend on the PP level as evidenced by the progress of this patient and her PP levels. Although the exact mechanism underlying the onset of EPP symptoms remains unclear, there have been only a few reported adult-onset EPP cases with the FECH gene mutation. 6, 7 These reports showed that the late-onset EPP patients developed photosensitivity after strong sun exposure in tropical climate in middle age, although such symptoms had not been experienced when they were in Northern Europe and were only exposed weak sunlight. 6, 7 Thus, the dose of sun exposure may play an important role in the induction of EPP symptoms. In this patient, the avoidance of sun exposure may have delayed the onset of EPP. Additionally, menstruation is reported to occasionally be associated with a worsening of EPP symptoms. 8 This patient experienced her first menstruation at 13 years of age; therefore, this may have been associated with the onset of EPP.