Genetic Clinic, Department of Pediatrics, Mumbai, Maharashtra, India.
Department of Dermatology, Seth G.S. Medical College and K.E.M. Hospital, Parel, Mumbai, Maharashtra, India.
J Postgrad Med. 2023 Jul-Sep;69(3):164-171. doi: 10.4103/jpgm.jpgm_698_22.
Porphyrias are a rare group of inborn errors of metabolism due to defects in the heme biosynthetic pathway. The biochemical hallmark is the overproduction of porphyrin precursors and porphyrin species. Afflicted patients present with a myriad of symptoms causing a diagnostic odyssey. Symptoms often overlap with those of common diseases and may be overlooked unless there is heightened clinical suspicion. We are reporting clinical features and diagnostic challenges in four pediatric patients having variegate porphyria, congenital erythropoietic porphyria, acute intermittent porphyria, and erythropoietic protoporphyria (EPP), who presented with diverse multisystem manifestations. This case series illustrates a logical analysis of symptoms and judicious selection of investigations and the role of genotyping in successfully diagnosing porphyrias.
卟啉症是一组罕见的先天性代谢缺陷疾病，由于血红素生物合成途径的缺陷引起。生化特征是卟啉前体和卟啉种类的过度产生。受影响的患者表现出多种多样的症状，导致诊断过程充满曲折。这些症状常常与常见疾病的症状相重叠，除非有高度的临床怀疑，否则可能会被忽视。我们报告了 4 名儿科患者的临床特征和诊断挑战，他们患有杂色卟啉症、先天性红细胞生成性卟啉症、急性间歇性卟啉症和红细胞生成性原卟啉症（EPP），表现出多种多系统表现。本病例系列说明了对症状进行逻辑分析以及明智选择检查的重要性，以及基因分型在成功诊断卟啉症中的作用。
