Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center.
Jing YangQianlong ChenHang YangBaolai HuaTienan ZhuYongqiang ZhaoHuadong ZhuXuezhong YuLi ZhangZhou ZhouPublished in: BioMed research international (2016)
Porphyria is a group of eight metabolic disorders characterized by defects in heme biosynthesis. The presentation of porphyria is highly variable, and the symptoms are nonspecific, which accounts in part for delays in establishing a diagnosis. In this study, we report the characteristics of 36 Chinese acute porphyria patients. Most of them were female (33/36), and the median age was 25.3 years (range 18-45 years). The most frequent presenting symptom was abdominal pain (32/36). Hyponatremia was the most common electrolyte abnormality (29/36), and the serum sodium concentration was significantly negatively correlated with convulsion (p = 0.00). Genetic testing provided a precise diagnosis of the patients. Genetic analysis of the porphobilinogen deaminase (PBGD) gene was performed for 10 subjects. Of them, 9 were found to harbor a mutation in the PBGD gene, proving a diagnosis of acute intermittent porphyria, and, in 1 case, a novel Cys209Term mutation was found.
Keyphrases
- end stage renal disease
- liver failure
- newly diagnosed
- ejection fraction
- copy number
- respiratory failure
- prognostic factors
- drug induced
- peritoneal dialysis
- primary care
- preterm infants
- abdominal pain
- aortic dissection
- heart failure
- patient reported outcomes
- dna methylation
- transcription factor
- high intensity
- gestational age
- patient reported