Two consecutive severe prekallikrein deficiencies were investigated. The first was identified in a 63-year-old patient admitted for ischemic stroke. The second deficiency was identified in a 38-year-old patient admitted for a second-trimester pregnancy loss. A homozygous C529Y mutation was identified for both cases, whereas they are unrelated and no consanguineous marriage is known from the patients. These data point to a possible high frequency of this mutation as a cause of prekallikrein deficiency.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/MBC.0b013e328010bcde | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Efficacy and safety of Donidalorsen in Hereditary Angioedema with C1 inhibitor deficiency: a systematic review and a meta analysis.
Arch Dermatol Res
December 2024
Department of Public Health, Atish Dipankar University of Science and Technology, Dhaka, Bangladesh.
Hereditary angioedema with C1 inhibitor deficiency (HAE-C1-INH) is a rare disorder characterized by recurrent, potentially life-threatening swelling in various parts of the body, including the limbs, face, and airways Current treatments focus primarily on symptomatic relief and the management of acute attacks, without targeting the underlying genetic cause or the dysregulated bradykinin production. Donidalorsen, a novel antisense oligonucleotide, addresses a key driver of HAE-C1-INH by targeting prekallikrein (PKK) to reduce bradykinin levels. This meta-analysis evaluates the efficacy and safety of Donidalorsen versus placebo, focusing on two dosing regimens: 4-week and 8-week intervals.
View Article and Find Full Text PDFHereditary angioedema (HAE) in children and adolescents: New treatment options.
Allergol Select
October 2024
Hannover Medical School (MHH), Department of Dermatology, Allergology and Venereology, Interdisciplinary Allergy Center of the MHH, Treatment Center for Hereditary Angioedema of the MHH, Hannover, Germany.
Article Synopsis
- Modern management of hereditary angioedema (HAE) emphasizes personalized treatment plans tailored to the needs of children and adolescents, as well as the severity of the disease.
- New medications have improved quality of life for HAE patients, but not all are approved for children, leading to ongoing research into alternative treatments such as those targeting bradykinin effects.
- Emerging options like oral medications, long-acting therapies, and potential gene therapy are being explored to better meet the care requirements for young patients with HAE type I and II.
Efficacy and Safety of Donidalorsen for Hereditary Angioedema.
N Engl J Med
July 2024
From the Division of Allergy and Immunology, University of California at San Diego, La Jolla (M.A.R.), the Division of Allergy, Immunology, and Rheumatology, University of California at Los Angeles, Los Angeles (R.T.), Allergy and Asthma Clinical Research, Walnut Creek (J.S.J.), and Ionis Pharmaceuticals, Carlsbad (L.B., K.B.N., S.T., S.W., A.Y.) - all in California; Asthma and Allergy Research Associates, Dallas (W.R.L.); the Department of Medicine, Pediatrics, and Biomedical Sciences, Penn State Health Allergy, Asthma, and Immunology, Hershey, PA (T.C.); Vinmec International Hospital, Hanoi (T.C.); the Division of Allergy and Immunology, Department of Chest Diseases, Hacettepe University School of Medicine, Ankara (G.K.), the Division of Immunology and Allergic Diseases, Istanbul Faculty of Medicine, Istanbul University, Istanbul (A.G.), and the Division of Allergy and Clinical Immunology, Department of Internal Medicine, Ege University Faculty of Medicine, Ege University, Izmir (N.M.G.) - all in Turkey; the Department of Clinical and Environmental Allergology, Jagiellonian University Medical College, Krakow, Poland (M.S.); the Angioedema Center, Barzilai University Medical Center, Ashkelon, Israel (A.R.); the Department of Immunology, Southmead Hospital, North Bristol National Health (NHS) Trust, Bristol, United Kingdom (M.M.G.); Medical Research of Arizona, Scottsdale (M.E.M.); and the Department of Vascular Medicine, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam (D.M.C.).
Background: Hereditary angioedema is a rare disorder characterized by episodic, potentially life-threatening swelling caused by kallikrein-kinin dysregulation. Long-term prophylaxis can stabilize this system. Donidalorsen, an antisense oligonucleotide, specifically reduces prekallikrein expression.
View Article and Find Full Text PDFIncreased Prolylcarboxypeptidase Expression Can Serve as a Biomarker of Senescence in Culture.
Molecules
May 2024
Division of Pharmacology, School of Pharmacy, University of Mississippi, Oxford, MS 38677, USA.
Prolylcarboxypeptidase (PRCP, PCP, Lysosomal Pro-X-carboxypeptidase, Angiotensinase C) controls angiotensin- and kinin-induced cell signaling. Elevation of PRCP appears to be activated in chronic inflammatory diseases [cardiovascular disease (CVD), diabetes] in proportion to severity. Vascular endothelial cell senescence and mitochondrial dysfunction have consistently been shown in models of CVD in aging.
View Article and Find Full Text PDFTargeting factor XI and factor XIa to prevent thrombosis.
Blood
April 2024
Aronora, Inc, Portland, OR.
Direct oral anticoagulants (DOACs) that inhibit the coagulation proteases thrombin or factor Xa (FXa) have replaced warfarin and other vitamin K antagonists (VKAs) for most indications requiring long-term anticoagulation. In many clinical situations, DOACs are as effective as VKAs, cause less bleeding, and do not require laboratory monitoring. However, because DOACs target proteases that are required for hemostasis, their use increases the risk of serious bleeding.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!