Ren Yi, Li Shuang, Lei Jia-Jia, Li Ru, Dong Bai-Xue, Yang Jing
Department of Endocrinology, The First Hospital of Shanxi Medical University, Taiyuan, China.
Department of First Clinical Medical School, Shanxi Medical University, Taiyuan, China.
Front Genet. 2023 Dec 11;14:1291719. doi: 10.3389/fgene.2023.1291719. eCollection 2023.
Early detection and diagnosis are important crucial to prevent life-threatening acute attacks in patients with acute intermittent porphyria (AIP). We aim to provide comprehensive data on the clinical and gene variant characteristics and genotype-phenotype association of Chinese patients with AIP in order to improve clinicians' knowledge of AIP and reduce misdiagnosis and mistaken treatment. We searched the literature on Chinese patients with AIP in PubMed, Web of Science, Wiley Online Library, ScienceDirect and Chinese literature databases up to August 2023 in our analysis to explore the clinical and gene variant characteristics of Chinese patients with AIP. A total of 41 original articles associated with Chinese AIP patients were included for analysis: 97 variants were detected in 160 unrelated families, including 35 missense, 29 frameshift, 24 splicing and 9 nonsense variants, with c.517C>T being the most common variant. Clinical data were reported in 77 of 160 patients: Most of them were female (67/77) and the age was 28.8 ± 9.9 years. The most common symptom was abdominal pain (73/77, 94.8%), followed by central nervous system symptoms (45/77, 58.4%). 13.0% (10/77) of patients experienced psychiatric symptoms. Hyponatremia was the most common electrolyte abnormality (42/77). 31 patients received carbohydrate loading therapy, and 30 of them were improved. 6 patients were treated with carbohydrate loading combined with hemin therapy and 5 eventually improved. All variants causing premature stop codons, frameshifts or enzyme activity center may experience more severe clinical phenotypes such as seizures, respiratory paralysis, intracranial hemorrhage disorder or respiratory failure. The most common presenting symptom in Chinese AIP patients was abdominal pain, followed by central nervous system symptoms. The gene analysis in Chinese AIP patients revealed that the heterogeneity is strong and the most common variant was missense mutation, with c.517C>T being the most common variant. The genotype-phenotype association helps guide clinical diagnosis and treatment. However, the treatment for AIP in China is limited and monolithic, and more attention needs to be paid to the treatment.
早期检测和诊断对于预防急性间歇性卟啉病（AIP）患者危及生命的急性发作至关重要。我们旨在提供关于中国AIP患者的临床和基因变异特征以及基因型-表型关联的全面数据，以提高临床医生对AIP的认识并减少误诊和误治。在我们的分析中，我们检索了截至2023年8月在PubMed、科学网、Wiley在线图书馆、ScienceDirect和中文文献数据库中关于中国AIP患者的文献，以探索中国AIP患者的临床和基因变异特征。总共纳入了41篇与中国AIP患者相关的原始文章进行分析：在160个无关家庭中检测到97个变异，包括35个错义变异、29个移码变异、24个剪接变异和9个无义变异，其中c.517C>T是最常见的变异。160例患者中有77例报告了临床数据：其中大多数为女性（67/77），年龄为28.8±9.9岁。最常见的症状是腹痛（73/77，94.8%），其次是中枢神经系统症状（45/77，58.4%）。13.0%（10/77）的患者出现精神症状。低钠血症是最常见的电解质异常（42/77）。31例患者接受了碳水化合物负荷疗法，其中30例病情改善。6例患者接受了碳水化合物负荷联合血红素疗法，5例最终病情改善。所有导致过早终止密码子、移码或酶活性中心的变异可能会出现更严重的临床表型，如癫痫发作、呼吸麻痹、颅内出血性疾病或呼吸衰竭。中国AIP患者最常见的首发症状是腹痛，其次是中枢神经系统症状。对中国AIP患者的基因分析显示异质性很强，最常见的变异是错义突变，其中c.517C>T是最常见的变异。基因型-表型关联有助于指导临床诊断和治疗。然而，中国对AIP的治疗有限且单一，需要更多地关注治疗。
