Glynne P, Deacon A, Goldsmith D, Pusey C, Clutterbuck E
Renal Section, Imperial College School of Medicine, London, UK.
Am J Kidney Dis. 1999 Jul;34(1):155-60. doi: 10.1016/s0272-6386(99)70123-x.
Bullous dermatoses (BD) are well recognized in patients with end-stage renal disease (ESRD). It is important to distinguish pseudoporphyria (porphyrin accumulation due to decreased clearance) from true porphyrias, particularly those in which acute neurological attacks may occur. Investigation of the dialysis patient poses practical diagnostic difficulties because urinary porphyrin profiles are not available. We describe a patient on continuous ambulatory peritoneal dialysis (CAPD) with several recognized causative factors for porphyria cutanea tarda (PCT). The patient presented with a blistering photosensitive rash. We highlight the importance of investigating anuric patients with fractionation of both fecal and plasma porphyrins. Plasma porphyrins were grossly elevated (345 nmol/L; reference range, <13), whereas plasma porphyrins in a control group of CAPD patients without blistering rashes were only minimally elevated (mean, 23.9 nmol/L; SD, 11.0; n = 9). Fractionation of fecal porphyrins by high-performance liquid chromatography (HPLC) yielded a pattern typical of PCT. In addition to the contributory factors for PCT that were present, it is possible that porphyrin accumulation secondary to renal failure played a role in the expression of her disease. Patients with ESRD presenting with BD require careful evaluation, including fractionation of fecal porphyrins.
大疱性皮肤病（BD）在终末期肾病（ESRD）患者中很常见。区分假性卟啉症（由于清除率降低导致卟啉蓄积）与真性卟啉症非常重要，尤其是那些可能发生急性神经发作的卟啉症。对透析患者进行检查存在实际诊断困难，因为无法获得尿卟啉谱。我们描述了一名接受持续性非卧床腹膜透析（CAPD）的患者，其具有几种已公认的迟发性皮肤卟啉症（PCT）致病因素。该患者出现水疱性光敏皮疹。我们强调了对无尿患者进行粪便和血浆卟啉分级分析的重要性。血浆卟啉显著升高（345 nmol/L；参考范围，<13），而在无水疱性皮疹的CAPD患者对照组中，血浆卟啉仅轻度升高（均值为23.9 nmol/L；标准差为11.0；n = 9）。通过高效液相色谱（HPLC）对粪便卟啉进行分级分析，得到了典型的PCT模式。除了存在的PCT致病因素外，肾衰竭继发的卟啉蓄积可能在其疾病表现中起了作用。出现BD的ESRD患者需要仔细评估，包括粪便卟啉分级分析。
