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Diagnosing Porphyria in a Female Patient With Diffuse Pelvic Pain: A Case Study.
Cureus
November 2024
Pediatrics, West Virginia School of Osteopathic Medicine, Lewisburg, USA.
Porphyria is a rare and often underdiagnosed metabolic disorder that leads to abdominal pain, pelvic pain, changes in neurological states, and digestive issues due to a buildup of porphyrins in the body. Diagnosis can be especially difficult in young women, where symptoms of porphyria often overlap with gynecological conditions. We present a case of a 37-year-old female patient who was experiencing persistent lower abdominal and pelvic pain, brain fog and confusion, and a rash after long sun exposure.
View Article and Find Full Text PDFAcute Intermittent Porphyria in an Adolescent Patient: Diagnostic and Treatment Challenges.
Cureus
November 2024
Internal Medicine-Pediatrics, University of California Los Angeles, Los Angeles, USA.
Acute intermittent porphyria (AIP) is a rare inherited metabolic disorder caused by decreased activity of the enzyme porphobilinogen deaminase in the heme synthesis pathway. This leads to the accumulation of toxic porphyrin precursors, such as porphobilinogen and δ-aminolevulinic acid. Clinical manifestations typically include episodic bouts of severe neurovisceral pain and autonomic dysfunction.
View Article and Find Full Text PDFBaseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran.
Mol Genet Metab Rep
December 2024
Department of Neurology, Chang Gung Memorial Hospital Linkou Medical Center and College of Medicine, Chang Gung University, Taoyuan, Taiwan.
Introduction: For patients with acute intermittent porphyria (AIP), a true attack could be difficult to distinguish from chronic abdominal pain. This study focused on treatment responses from two patients with confirmed elevated biochemical data (delta-aminolevulinic acid (ALA), porphobilinogen (PBG)) and clinical evidence for acute attacks before starting givosiran.
Methods: Data from patients who participated in the phase III givosiran trial in Taiwan between May 2018 and May 2021 were reviewed.
Background: Acute Hepatic Porphyria is a group of four rare genetic but treatable diseases that often go undiagnosed due to its non-specific symptoms, under-recognition of the condition by clinicians, and the lack of access to specialists and appropriate testing. This case-control study investigates the phenotypic and demographic patterns in Acute Hepatic Porphyria (AHP) patients at a tertiary care center (University of California Los Angeles) to update recommendations for recognition and diagnosis of this disease in our community.
Method: A retrospective chart analysis was conducted on 45 patients who were evaluated for AHP, Electronic Medical Record (EMR) data was collected and analyzed to investigate clinical differences and correlations.
Recommendations for assessing commutability of a replacement batch of a secondary calibrator certified reference material.
Clin Chim Acta
December 2024
Laboratoire national de métrologie et d'essais, Paris, France.
Article Synopsis
- - Commutable secondary certified reference materials (CRMs) are crucial for ensuring consistent results in medical lab tests, highlighting the need for their sustainable availability.
- - The IFCC Working Group has released recommendations for assessing the commutability of these CRMs, although detailed studies can strain resources for producers.
- - A new equivalence assessment method allows for comparing replacement CRMs with established ones, potentially reducing resource needs while ensuring reliability through the inclusion of representative clinical samples.
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