Li Qingqing, Chen Xiaoyan, Wang Hong, Tuo Biguang, Zhou Zunlan, Yang Lina
Department of Gastroenterology, Digestive Disease Hospital, Affiliated Hospital of Zunyi Medical University, Zunyi Guizhou 563000.
Collaborative Innovation Center of Tissue Damage Repair and Regeneration Medicine of Zunyi Medical University, Zunyi Guizhou 563000.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Nov 28;48(11):1769-1774. doi: 10.11817/j.issn.1672-7347.2023.230242.
Erythropoietic protoporphyria (EPP) is an inherited metabolic disease caused by the deficiency in ferrochelatase (FECH) encoded by the gene, and it is inherited in an autosomal recessive manner. EPP usually produces acute pain photosensitivity after exposure to sunlight in infancy or early childhood, and liver failure is the most serious associated complication. This article reported an adult female case of EPP complicated with thyrotoxicosis and liver dysfunction which is a rare condition. The patient's liver function improved after liver protection treatment, her thyroid function returned to normal, and her EPP symptoms improved significantly. Moreover, the c.286C>T gene mutation may be the pathogenic locus of EPP. For patients with abnormal liver function, the possibility of EPP should be considered after the common causes are excluded, and gene detection should be done to confirm the diagnosis in time. When EPP is associated with thyrotoxicosis and liver dysfunction, priority may be given to hepatoprotective therapy.
红细胞生成性原卟啉病(EPP)是一种由 基因编码的亚铁螯合酶(FECH)缺乏引起的遗传性代谢疾病,呈常染色体隐性遗传。EPP通常在婴儿期或儿童早期暴露于阳光下后产生急性疼痛性光敏反应,肝衰竭是最严重的相关并发症。本文报道了1例成年女性EPP合并甲状腺毒症和肝功能不全的罕见病例。患者经保肝治疗后肝功能改善,甲状腺功能恢复正常,EPP症状明显改善。此外,c.286C>T基因突变可能是EPP的致病位点。对于肝功能异常的患者,排除常见病因后应考虑EPP的可能性,并及时进行 基因检测以确诊。当EPP合并甲状腺毒症和肝功能不全时,可优先进行保肝治疗。
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023-11-28
Orphanet J Rare Dis. 2009-9-10
J Pediatr Gastroenterol Nutr. 2006-7
World J Gastroenterol. 2019-2-21
Pathol Biol (Paris). 2010-10
Diagnostics (Basel). 2022-1-8
Dig Liver Dis. 2022-4
J Clin Endocrinol Metab. 2021-11-19
J Cutan Med Surg. 2022
Expert Rev Clin Pharmacol. 2021-2
N Engl J Med. 2017-8-31