Joana Vindeirinho, PhD,  —

A woman with unexplained abdominal pain and syndrome of inappropriate antidiuretic hormone secretion (SiADH) was eventually diagnosed with acute intermittent porphyria (AIP) after initial testing and misdiagnoses, a new case study reports. In SiADH, overproduction of antidiuretic hormone (ADH) causes the kidneys to reduce filtration significantly and retain more…

A Chinese woman with acute intermittent porphyria (AIP) accompanied by brain lesions was found to have a new mutation in the HMBS gene, a case report described. Along with other symptoms including constipation, seizures, and muscle weakness, the woman had swelling in some areas of the brain, indicative of…