Uejima, Etsuko, Takahashi, Kyoko, Morisaki, Tomoko, Takahashi, Koichi, Ohno, Masako, Nishida, Yuko, Moriya, Masayuki, Kaido, Misako, Abe, Kazuo, Sakoda, Saburo, Yanagihara, Takehiko, Kurokawa, Nobuo, and Azuma, Junichi
The clinical aspect of porphyria has been investigated, and it is well known that porphyrinogens such as estrogens and alcohol or other inducers of P450 isoenzymes exacerbate the porphyric state. However, there can be a delay in diagnosing porphyria and a difficulty in selecting safe medicine for it even today. A 21‐year‐old woman developed epilepsy, disturbance of mental state, and spastic tetraparesis during the convalescent period after acute viral encephalitis. She was diagnosed with porphyria after the fifth hospitalization. In the course of modifying her anticonvulsant regimen, the authors examined the 6β‐hydroxycortisol/cortisol ratio (6β‐OHF/F) in her urine, which can be the index of hepatic CYP3A4 activity, with electrospray ionization/mass spectrometry/mass spectrometry (ESI/MS/MS). Generalized and partial complex seizures, other neurological signs and symptoms, and laboratory data were improved after modification of her anticonvulsant regimen. This is the first report of evaluating the urinary 6β‐hydroxycortisol/cortisol ratio in a case of porphyria.