Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center

Abstract

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.

Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene

“…The reason for the transiently reduced diffusion within the lesions on MRI is still unknown, which has been suggested to be due to hypotonic hyponatremia or a myelin-specific neurotoxin released by a pathogen [6,23]. The possible cause of hyponatremia of RESLES is SIADH, which is also considered a cause of hyponatremia in patients with AIP [22]. Since she had no evidence of infection, hyponatremia may be a contributing factor of RESLES in our proband.…”

“…Symptoms in AIP, which occur as intermittent attacks and may be lifethreatening, are caused by excess production of porphyrin precursors on the visceral, peripheral, autonomic, and central nervous systems [1]. Clinical manifestations of CNS involvement include epileptic seizures, impaired consciousness, behavior changes and hyponatremia caused by inappropriate antidiuretic hormone syndrome [21,22]. The symptoms of our proband included abdominal pain, nausea, vomiting, confusion, delirium, seizures and hyponatremia.…”

Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene

“…The reason for the transiently reduced diffusion within the lesions on MRI is still unknown, which has been suggested to be due to hypotonic hyponatremia or a myelin-specific neurotoxin released by a pathogen [6,23]. The possible cause of hyponatremia of RESLES is SIADH, which is also considered a cause of hyponatremia in patients with AIP [22]. Since she had no evidence of infection, hyponatremia may be a contributing factor of RESLES in our proband.…”

“…Symptoms in AIP, which occur as intermittent attacks and may be life-threatening, are caused by excess production of porphyrin precursors on the visceral, peripheral, autonomic, and central nervous systems [1]. Clinical manifestations of CNS involvement include epileptic seizures, impaired consciousness, behavior changes and hyponatremia caused by inappropriate antidiuretic hormone syndrome [21,22]. The symptoms of our proband included abdominal pain, nausea, vomiting, confusion, delirium, seizures and hyponatremia.…”

Neurological Manifestations and Neuroimaging Findings of Acute Intermittent Porphyria Patients

“…Neurological manifestations of AIP include epileptic seizures, impaired consciousness, behavioral changes and hyponatremia maybe caused by inappropriate antidiuretic hormone syndrome [7,8]. Peking union medical college hospital reported the characteristics of 36 Chinese patients with acute porphyria in 2016; 12 patients experienced neurological symptoms involving the CNS (12/36 confusion, 10/36 convulsion, 2/36 rapid progression to acute respiratory insu ciency) [7]. The prodromal symptoms in these cases included abdominal pain, muscle weakness.…”