Shah Aniruddh, Killeen Robert B., Bhatt Harshil
SBHGMC DHULE, INDIA
University of Illinois
Porphyrias are a spectrum of metabolic disorders arising from a defect or alteration of enzymes in the heme biosynthesis pathway which present with either neurovisceral symptoms, cutaneous symptoms, or a combination of the two. Porphyria cutanea tarda (PCT), the most common porphyria, is the result of a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD). The hallmark of this disorder is photosensitivity. Hepatic UROD is tasked with the conversion of uroporphyrinogen III to coproporphyrinogen III, and failure to do so results in the accumulation of the preceding compounds in the liver that eventually appears in the plasma and urine. Hepatoerythropoietic porphyria (HEP) is another rare form of porphyria which is clinically very similar to PCT but occurs due to homozygous mutation of UROD genes, whereas in PCT, the mutation in UROD gene, when present, is usually heterozygous. In this article, we discuss the different causes of UROD deficiency, along with clinically pertinent information for diagnosing and managing patients with PCT.
卟啉病是一系列代谢紊乱疾病，由血红素生物合成途径中的酶缺陷或改变引起，表现为神经内脏症状、皮肤症状或两者兼有。迟发性皮肤卟啉病（PCT）是最常见的卟啉病，是由于尿卟啉原脱羧酶（UROD）缺乏所致。这种疾病的标志是光敏性。肝脏中的UROD负责将尿卟啉原III转化为粪卟啉原III，若无法完成此过程，会导致前体化合物在肝脏中积累，最终出现在血浆和尿液中。肝红细胞生成性卟啉病（HEP）是另一种罕见的卟啉病，在临床上与PCT非常相似，但它是由UROD基因的纯合突变引起的，而在PCT中，UROD基因的突变（若存在）通常是杂合的。在本文中，我们将讨论UROD缺乏的不同原因，以及诊断和管理PCT患者的临床相关信息。
