Recurrent porphyria attacks in a Chinese patient with a heterozygous PBGD mutation |
| |
| Authors: | Xiao-Fei Kong Yue Han Xin-Hua Li De-Yong Gao Xin-Xin Zhang Qi-Ming Gong |
| |
| Institution: | 1. Clinical Virological Research Unit, Department of Infectious Disease, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China;2. Chinese–French Laboratory of Life Science and Genomics, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China;3. Institute of Infectious and Respiratory Diseases, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China;4. Faculty of Medical Laboratory Science, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China |
| |
| Abstract: | We report here the case of a 32-year-old Chinese Han woman who presented with frequent severe abdominal pain, convulsion, numbness and confusion. She also had hypertension, hyponatremia, chronic renal failure, anemia and a high urinary δ-aminolevulinic acid concentration. We identified a heterozygous splicing mutation in intron 11 (IVS11-2A → G) of the porphobilinogen (PBG) deaminase gene (PBGD) in her genomic DNA. This mutation had previously been reported in a North American patient, but was absent from 50 healthy Chinese controls. |
| |
| Keywords: | AIP Acute intermittent porphyria PBG porphobilinogen PBGD porphobilinogen deaminase ALA d-aminolevulinic acid |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
