Original Article
Clinical features and pathogenic genes of patients with acute intermittent porphyria in China: a literature review
Jiang Yun, Zhang Xuemei, Sheng Aizhen, Li Yi, Gong Tao
Published 2024-05-04
Cite as Chin J Gen Pract, 2024, 23(5): 487-493. DOI: 10.3760/cma.j.cn114798-20231026-00310
Abstract
ObjectiveTo analyze the clinical features and pathogenic genes of patients with acute intermittent porphyria (AIP) in China.
MethodsThis was a systematic review. PubMed, CNKI and Wanfang Data were researched by using the terms “acute intermittent porphyria” and “China” from inception to June, 2022. The Chinese AIP patients with complete clinical data and hydroxymethylbilane synthase (HMBS) gene findings were collected and analyzed. The duplicated AIP cases were deleted.
ResultsTotal 48 AIP cases of 37 families were collected from 32 studies. Among them, 45 cases (94%) were females with a symptom onset age of (26.8±6.5) years, and 3 cases (6%) were males with an onset age of 35, 45 and 53 years, respectively. Forty-seven cases (98%) had initial symptom of abdominal pain, accompanied with nausea, vomiting and incomplete intestinal obstruction; 30 (63%) had hyponatremia, 29 (60%) had encephalopathy; 24 (50%) had anxiety and/or depression; 20 (42%) had anemia; 19 (40%) had epilepsy; 19 (40%) had abnormal liver function; 16 (33%) had inappropriate antidiuretic hormone secretion syndrome; 15 (31%) had symmetric motor predominant neuropathy; and various proportions of patients presented with tachycardia, hypertension or hypotension, increased serum creatinine, hypokalemia, fever and respiratory failure. Among 18 AIP patients with encephalopathy, brain MRI showed posterior reversible encephalopathy syndrome in 11 cases (61%). Urine porphobilinogen (PBG) was positive in all patients during the acute attacks. All patients received intravenous infusion of high dose glucose, and 4 received intravenous infusion of heme simultaneously; 96% (46/48) patients had remission. Thirty mutations were detected in HMBS gene. The penetrance analysis on 24 AIP families with HMBS gene mutation revealed that the penetrance rate in females was higher than that in males(55%(24/44) vs. 9% (1/11)).
ConclusionsAIP is more common in females during the reproductive period. AIP frequently involves multiple systems. Treatment with intravenous infusion of high dose glucose and heme is effective. Thirty HMBS gene mutations have been identified in these 48 Chinese AIP patients.
Key words:
Acute intermittent porphyria; Clinical picture; Mutation
Contributor Information
Jiang Yun
Department of Neurology, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, China
Zhang Xuemei
Department of Neurology, Peking University Medical Zibo Hospital, Zibo 255051, China
Sheng Aizhen
Department of Neurology, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, China
Li Yi
Department of Neurology, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, China
Gong Tao
Department of Neurology, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, China
