A new mutation in the HMBS gene was found to be the cause of acute intermittent porphyria (AIP) in a Chinese woman who experienced symptom flares related to an unexpected pregnancy, a case study reported. “This case contributes to the existing knowledge on AIP and its causative genetic mutations,”…
A wearable device capable of measuring light exposure could help to predict symptoms of erythropoietic protoporphyria (EPP), and may be useful as a measure to include in clinical trials, according to a recent study. The study, “Prospective observational pilot study of quantitative light dosimetry in erythropoietic…
The case of a woman with variegate porphyria (VP) diagnosed following an acute attack that occurred after weight loss surgery was described in a recent report. Study authors recommend that people planning weight loss surgery first have a screening for porphyria, since this type of surgery may…
Porphyria cutanea tarda (PCT), the most common form of porphyria, is much less common among people with kidney disease today than it has been in the past, a recent study suggests. “This study shows, for the first time, that in modern hemodialysis era, possibly due to improved porphyrins’ metabolism…
People with acute intermittent porphyria (AIP) who have health problems related to the kidneys or liver are more likely to have issues with oral health than those without the genetic disorder, according to a new study. Specifically, patients with kidney failure or liver scarring were found to have worse…
A 26-year-old woman with acute intermittent porphyria (AIP) was successfully treated with hemin and is recovering, despite delays due to an initial misdiagnosis with the rare neurological disorder Guillain-Barré syndrome, according to a case report. The patient ended up on invasive ventilation at a hospital in Ecuador before being…
The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…
The case of a man with porphyria cutanea tarda (PCT) that damaged his eyes — a rare manifestation of the disease that progressed to the point that it threatened his eyesight — was described in a report from India. The report, “Sight-threatening progressive corneo-scleral involvement in porphyria…
Abnormal fatty lesions in the liver, detected via ultrasound, may be critical for diagnosing some cases of porphyria cutanea tarda (PCT), the most common form of porphyria, according to a study. Its authors suggest that clinicians should use urinary tests to check for PCT in patients with unexplained…
People with acute hepatic porphyria (AHP) tend to have higher-than-normal levels of markers for kidney injury, new research suggests. The findings were shared in a virtual poster, titled “Renal Injury Biomarkers Are Elevated in Acute Hepatic Porphyria,” presented at the American Society of Nephrology Kidney Week…
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