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Prekallikrein Deficiency, Congenital, Autosomal Recessive

Fletcher Factor Deficiency


Presentation

  • Silberstein, MD, Helen Heslop, MD, Jeffrey Weitz, MD, John Anastasi, MD, and a host of world-class contributors present the expert, evidence-based guidance you need to make optimal use of the newest diagnostic and therapeutic options.[books.google.com]
  • […] deficiency due to a new mutation (Arg541Gln) in exon 14 associated with a common polymorphysm (Asn124Ser) in exon 5. ( 25075649 ) Girolami A....Guglielmone H. 2014 11 Prekallikrein deficiency. ( 23629422 ) Quail M.T. 2013 12 Prekallikrein deficiency presenting[malacards.org]
  • Presentation on theme: "Chapter 23. Bleeding disorders associated with coagulopathy"— Presentation transcript: 1 Chapter 23.[slideplayer.com]
  • The clinical presentation of a severe factor deficiency is spontaneous bleeding or excessive bleeding following minor trauma in otherwise healthy infants. ICH may be the presenting symptom.[onlinelibrary.wiley.com]
  • If an abnormal bleeding history is present, focus on disorders associated with bleeding. See table below.[arupconsult.com]
Italian
  • 1996 26 Replacement therapy in a patient with congenital prekallikrein deficiency undergoing surgery. ( 1391808 ) Shigekiyo T....Fujino O. 1992 27 Prekallikrein deficiency in a family of Belgian horses. ( 2211324 ) Geor R.J....Fretz P.B. 1990 28 A new Italian[malacards.org]
  • […] clinical features FMF TRAPS HIDS FCAS MWS NOMID/CINCA usual ethnicity Turkish, Armenian, Arab, Jewish, Italian any ethnicity Dutch, other Northern European mostly European mostly European any ethnicity duration of attacks 12-72 hours days to weeks 3-7[ufrgs.br]
  • […] amyloidosis, Arctic type Hereditary cerebral hemorrhage with amyloidosis, Dutch type Hereditary cerebral hemorrhage with amyloidosis, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Italian[csbg.cnb.csic.es]
  • AGXT) Protein Losing Nephropathy (NPHS1) X-Linked Hereditary Nephropathy (Samoyed Variant 2) (COL4A5 Exon 35) Autosomal Recessive Hereditary Nephropathy, Familial Nephropathy (COL4A4 Exon 3) Other Systems Autosomal Recessive Amelogenesis Imperfecta (Italian[embarkvet.com]
  • […] disease-2 104310 107741 Autosomal dominant APOE 19q13.32 Hyperlipoproteinemia, type III 617347 107741 APOPT1 14q32.33 Mitochondrial complex IV deficiency 220110 616003 Mitochondrial; Autosomal recessive APP 21q21.3 Cerebral amyloid angiopathy, Dutch, Italian[mnglabs.com]
Surgical Procedure
  • The emphasis is placed on identification of patients with a potential bleeding problem and management of these patients if surgical procedures are needed.[pocketdentistry.com]
  • procedures [ 35 ].[onlinelibrary.wiley.com]
  • DDAVP also has been effectively used as a prophylactic agent in preparation for elective surgical procedures in patients with mild hemophilia A and vWD. 29,31,33 If used as a prophylactic agent to prevent surgical bleeding, it is suggested that an infusion[ahcmedia.com]
Congestive Heart Failure
  • heart failure Ace coronary artery disease Ace Coronary Disease Ace, F12 coronary restenosis Ace Coronavirus Infections Ace Cough Ace, Bdkrb2, Kng2 Death F12 Diabetes Complications Bdkrb1, Bdkrb2 Diabetes Mellitus, Experimental Ace, Bdkrb1, Bdkrb2, Klk1[rgd.mcw.edu]
  • heart failure Paroxysmal nocturnal hemoglobinuria Physiologic states Pregnancy ( especially postpartum ) Obesity Postoperative state Immobilization Old age DISORDERS OF PLATELET AND VESSEL WALL • usually bleed into superficial sites such as the skin,[slideshare.net]
Malnutrition
  • These digestive problems can lead to failure to thrive and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older.[resourcerepository.org]
  • […] production of the vitamin K dependent factors - II, VII, IX, X, protein C and protein s 3. vitamin K deficiency can be caused by hemorrhagic disease of the newborn (newborns do not have functioning vit K), antibiotics (decrease gut flora), malabsorption/malnutrition[brainscape.com]
Thrombosis
  • Jeffrey Weitz, Professor of Medicine at McMaster University School of Medicine and Executive Director of the Thrombosis and Atherosclerosis Research Institute in Ontario.[books.google.com]
  • […] deficiency. ( 3487556 ) Bouma BN...Griffin JH 1986 30 Prekallikrein deficiency in a dog. ( 3632973 ) Chinn DR...Selcer BA 1986 31 Prekallikrein deficiency in a family of miniature horses. ( 3641551 ) Turrentine MA...Johnson GS 1986 32 Multiple cerebral thrombosis[malacards.org]
  • (PMID: 19583818) Li Y … Rosendaal FR (Journal of thrombosis and haemostasis : JTH 2009) 3 22 45 60 Common variation in KLKB1 and essential hypertension risk: tagging-SNP haplotype analysis in a case-control study.[genecards.org]
  • […] is more common 5. thrombosis is likely due to platelet aggregation and activation of coagulation 6. symptoms include thrombocytopenia, thrombosis, and allergic reactions 1. due to congenital X-linked recessive deficiency of Factor VIII 2. results in[brainscape.com]
  • BLEEDING AND THROMBOSIS ! Vessel wall, blood platelets and plasma proteins ! Normal hemostatic system balance between thrombosis and bleeding ![slideshare.net]
Hypertension
  • .Lemmens J. 2016 6 Prekallikrein deficiency. ( 27585864 ) Zheng S....Brighton T. 2016 7 A comparison of the effects of factor XII deficiency and prekallikrein deficiency on thrombus formation. ( 26950760 ) Kokoye Y....Gailani D. 2016 8 Prevalence of hypertension[malacards.org]
  • (PMID: 19583818) Li Y … Rosendaal FR (Journal of thrombosis and haemostasis : JTH 2009) 3 22 45 60 Common variation in KLKB1 and essential hypertension risk: tagging-SNP haplotype analysis in a case-control study.[genecards.org]
  • Ace, Bdkrb1, Bdkrb2, F12, Klk1, Klkb1, Kng2 Hypertension, Pregnancy-Induced Ace Hypertensive Nephrosclerosis Ace hypertrophic cardiomyopathy Ace Hypoalbuminemia A2m Hypophosphatemic Nephrolithiasis/Osteoporosis F12 Hypotension Ace, Bdkrb2, Kng2 IgA glomerulonephritis[rgd.mcw.edu]
  • Labs: increased 17OH pregenterone Classic 11OHase deficiency Salt retention/hypertension (11-deoxycorticosterone), increased 17KS (virilization), skin hyperpigmentation Salt retention, hypertension, (aldosterone), female hypogonadism (decreased 17KS),[cram.com]
  • We check for diseases such as: Alzheimer’s disease Asthma Breast cancer Colorectal cancer Cystic Fibrosis Diabetes Hypertension Leukemia Lung cancer Multiple sclerosis Myocardial infarction Obesity Osteoarthritis Parkinson’s disease Prostate cancer Skin[21gfox.ca]
Purpura
  • Hematologic disease Brite Human diseases [BR: br08402 ] Cardiovascular diseases Hematologic diseases H01078 Fletcher factor deficiency Human diseases in ICD-11 classification [BR: br08403 ] 03 Diseases of the blood or blood-forming organs Coagulation defects, purpura[genome.jp]
  • It is defined as the combination of a plasma-cell proliferative disorder (typically myeloma), polyneuropathy, and effects on many othe … Thrombotic Thrombocytopenic Purpura Thrombotic thrombocytopenic purpura (TTP or Moschcowitz syndrome[1]:822) is a[checkrare.com]
  • 50,000 - 100,000 "mild prolonged BT ; 50,000 " easy bruising, purpura, mucosal bleeding, 20,000 " spontaneous bleeding, internal or intracranial bleed ![slideshare.net]
  • 1. immune thrombocytpenic purpura 2. thrombotic thrombocytopenic purpura 3. hemolytic uremic syndrome 4. heparin induced thrombocytopenia 1. immune thrombocytopenic purpura 2. caused by antibodies to platelet antigens 3. antigenic target varies - GPIIb[brainscape.com]
  • […] chronic aseptic meningitis, mental retardation, headache lymphatic splenomegaly, occasional lymphadenopathy splenomegaly, occasional lymphadenopathy cervical adenopathy in children not seen rare hepatosplenomegaly, adenopathy vasculitis Henoch-Schonlein purpura[ufrgs.br]
Stroke
  • A few people with prekallikrein deficiency have experienced health problems related to blood clotting such as heart attack, stroke, a clot in the deep veins of the arms or legs ( deep vein thrombosis ), nosebleeds, or excessive bleeding after surgery.[ghr.nlm.nih.gov]
  • The condition is usually discovered when blood tests are done for other reasons.A few people with prekallikrein deficiency have experienced health problems related to blood clotting such as heart attack, stroke, a clot in the deep veins of the arms or[ncbi.nlm.nih.gov]
  • Bdkrb1, Bdkrb2 Sepsis A2m, Klkb1 severe acute respiratory syndrome Ace Shock, Traumatic Serping1 silicosis Cpm Skeletal Muscle Reperfusion Injury Serping1 Splenomegaly Bdkrb1 Spontaneous Abortion F12 Staphylococcal Infections Ace Stomach Neoplasms Ace Stroke[rgd.mcw.edu]
  • White thrombi : arteries ; high blood flow ; rich in platelets ; little fibrin ; emboli " occlusion of arteries like TIA and Stroke ( cerebral arteries ), 6.[slideshare.net]

Workup

  • A more in-depth hematologic workup is required to confirm the diagnosis of vWD. Hemophilia A (factor VIII deficiency) does not affect the platelet count or the PT.[ahcmedia.com]

Treatment

  • Features sweeping content updates throughout, including basic science research which serves as a foundation for modern hematology, recent advances in stem cell transplantation, clinical advances in the treatment of each of the hematologic malignancies[books.google.com]
  • Treatment of Hemophilia The cornerstone of the treatment of hemophilia is factor replacement. As with vWD, this is undertaken with the assumption that at the time of an acute hemorrhage, the factor activity level is 0%.[ahcmedia.com]
  • Prophylactic treatments include attenuated androgens and C1 inhibitor.[primaryimmune.org]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[resourcerepository.org]

Prognosis

  • Prognosis - Hemophilia C Not supplied. Resources - Hemophilia C Not supplied.[checkorphan.org]
  • PMID: 2014441 Prognosis Girolami A, Ferrari S, Cosi E, Girolami B Blood Coagul Fibrinolysis 2018 Jul;29(5):423-428. doi: 10.1097/MBC.0000000000000735.[ncbi.nlm.nih.gov]

Etiology

  • Etiology Curr Opin Hematol 2016 Sep;23(5):445-52. doi: 10.1097/MOH.0000000000000271.[ncbi.nlm.nih.gov]
  • Etiology Disorders of Primary Hemostasis (Platelet Plug) Thrombocytopenia See Thrombocytopenia, [[Thrombocytopenia]] Platelet Adhesion Defect Von Willebrand Disease (see Von Willebrand Disease, [[Von Willebrand Disease]]) Inherited Von Willebrand Disease[mdnxs.com]
  • Therapy of bleeding episodes in the neonate relies upon proper replacement and repeated haemostatic evaluation of patients’ status, while dealing with underlying etiological causes.[onlinelibrary.wiley.com]
  • Aged plasma: lacks factors V and VIII Fresh absorbed plasma lacks vitamin K factors X, IX,VII, II Aged serum lacks VIII, V, II, I determine etiology of prolonged PT, APTT, identify specific factor of deficiency or inhibitor, reference graph prepared with[quizlet.com]

Epidemiology

  • Genatlas disease for KLKB1 Gene Fletcher factor deficiency,without bleeding diathesis Relevant External Links for KLKB1 Genetic Association Database (GAD) KLKB1 Human Genome Epidemiology (HuGE) Navigator KLKB1 Atlas of Genetics and Cytogenetics in Oncology[genecards.org]
  • Hemophilia A (factor VIII deficiency) Hemophilia B (factor IX deficiency) Other coagulation factor deficiencies Antithrombin III deficiency Protein C deficiency Protein S deficiency Factor V Leiden mutation Prothrombin G2021A mutation Hyperchomocysteinemia Epidemiology[pocketdentistry.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology The three phases of hemostasis for controlling bleeding are vascular, platelet, and coagulation. The vascular and platelet phases are referred to as primary, and the coagulation phase is secondary.[pocketdentistry.com]
  • Anaerobic glycolysis produces lactate with decreased intracellular pH which denatures proteins (coagulation necrosis), cell swelling, entry of calcium and apoptosis Pathophysiology of cell injury in hypoxia ETC fails due to lack of oxygen; 2.[cram.com]
  • The pathophysiology of bleeding disorders presenting as abnormal uterine bleeding. Am J Obstet Gynecol 1996;175: 770-777. 21. Edlund M, Blomback M, von Schoultz B, et al. On the value of menorrhagia as a predictor for coagulation disorders.[ahcmedia.com]

Prevention

  • Prevention - Hemophilia C The drug Cyklokapron is often used as a preventative measure to avoid excessive bleeding during oral surgery. Diagnosis - Hemophilia C Not supplied. Prognosis - Hemophilia C Not supplied.[checkorphan.org]
  • On chromosome 17 Normally prevents a cell from entering S phase. Retinoblastoma, osteogenic sarcoma. Inactivated product by cyclin/cdk.[cram.com]
  • Control mechanisms to prevent unregulated activity (and tissue damage) are present in each pathway.[primaryimmune.org]
  • Blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss.[ghr.nlm.nih.gov]
  • This level of personalization may help you take action to detect health conditions early, reduce their effects or aid you in preventing them.[21gfox.ca]

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