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36 Possible Causes for Mutation in the Hereditary Hemochromatosis Gene, Pulmonary Edema

  • Congestive Heart Failure

    This causes systemic or pulmonary edema or both.[health.howstuffworks.com] The actuarial survival rates of persons who are homozygous for the mutation of the hemochromatosis gene C282Y have been reported to be 95%, 93%, and 66%, at 5, 10, and 20[doi.org] Major criteria: · Paroxysmal nocturnal dyspnea · Neck vein distention · Rales · Radiographic cardiomegaly (increasing heart size on chest radiography) · Acute pulmonary edema[medicalcriteria.com]

  • Heart Failure

    […] ejection fraction and acute pulmonary edema.[ncbi.nlm.nih.gov] The actuarial survival rates of persons who are homozygous for the mutation of the hemochromatosis gene C282Y have been reported to be 95%, 93%, and 66%, at 5, 10, and 20[doi.org] Major criteria: · Paroxysmal nocturnal dyspnea · Neck vein distention · Rales · Radiographic cardiomegaly (increasing heart size on chest radiography) · Acute pulmonary edema[medicalcriteria.com]

  • Hemochromatosis

    Biventricular failure produces pulmonary congestion, peripheral edema, and hepatic engorgement.[sickle.bwh.harvard.edu] Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes.[ncbi.nlm.nih.gov] Gene mutations that cause hemochromatosis A gene called HFE is most often the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents.[mayoclinic.com]

  • Hemolytic Anemia

    Pulmonary hypertension eventually causes right ventricular heart failure, the symptoms of which are peripheral edema (fluid accumulation in the skin of the legs) and ascites[en.wikipedia.org] We herein report the assessment of glycemic control in a 41-year-old man with dehydrated hereditary stomatocytosis and a PIEZO1 gene mutation complicated by diabetes mellitus[ncbi.nlm.nih.gov] The continuous release of free hemoglobin has been linked with the development of pulmonary hypertension (increased pressure over the pulmonary artery); this, in turn, leads[en.wikipedia.org]

  • Liver Cirrhosis

    Interstitial edema or dilated precapillary pulmonary vessels may reduce pulmonary diffusing capacity. Patients also may have hepatopulmonary syndrome (HPS).[emedicine.com] We herein report the assessment of glycemic control in a 41-year-old man with dehydrated hereditary stomatocytosis and a PIEZO1 gene mutation complicated by diabetes mellitus[ncbi.nlm.nih.gov] […] and cardiac manifestations Patients with cirrhosis may have impaired pulmonary function.[emedicine.com]

  • Restrictive Cardiomyopathy

    edema.[healio.com] Cardiac Hemochromatosis Hereditary hemochromatosis (HH) is caused by increased absorption of dietary iron, which accumulates in various organs, leading to their dysfunction[circres.ahajournals.org] Right heart failure symptoms include lower-extremity-dependant edema.[healio.com]

  • Pathological Fracture

    Death is common if the hypovolemic shock is not rapidly reversed but excessive fluid replacement also may lead to interstitial pulmonary edema.[boneandspine.com] (Fleming and Bacon, 2005; Crownover and Covey, 2013) Hereditary Hemochromatosis Hereditary hemochromatosis (HHC) due to mutations in the HFE gene is an autosomal recessive[webpath.med.utah.edu]

  • Congenital Dyserythropoietic Anemia

    A massive hydropic newborn born with a very severe anemia (Hb 4.8 g/dL), diffuse edema, hepatosplenomegaly, ascites, pulmonary edema and respiratory distress, and shortness[ncbi.nlm.nih.gov] To the authors' knowledge, this is the first report of homozygosity for the C282Y mutation of the HFE gene in a patient affected by congenital dyserythropoietic anemia.[ncbi.nlm.nih.gov] 15; HEMPAS, hereditary erythroblastic multinuclearity associated with a positive acidified serum test; HFE gene H63D, gene of common hemochromatosis mutation; SLC4A, gene[accessmedicine.mhmedical.com]

  • Cryptogenic Cirrhosis

    Interstitial edema or dilated precapillary pulmonary vessels may reduce pulmonary diffusing capacity. Patients also may have hepatopulmonary syndrome (HPS).[hepatitiscnewdrugs.blogspot.com] Because of the discovery of the candidate gene (HFE) for hereditary hemochromatosis, we may now be able to screen high-risk patient populations for the abnormal mutation ([ncbi.nlm.nih.gov] Pulmonary and cardiac manifestations Patients with cirrhosis may have impaired pulmonary function.[hepatitiscnewdrugs.blogspot.com]

  • Hemosiderosis

    edema J81.0 Acute pulmonary edema J81.1 Chronic pulmonary edema J82 Pulmonary eosinophilia, not elsewhere classified J84 Other interstitial pulmonary diseases J84.0 Alveolar[icd10data.com] A novel MHC class-1-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 1996; 14 :399–408. 2. Edwards CQ, Ajioka RS, Kushner JP.[nature.com] […] capillary wedge pressure 肺動脈楔入圧 pulmonary circulation 肺循環 pulmonary collapse 肺虚脱 pulmonary cyst 肺嚢胞 pulmonary diffusion 肺拡散 pulmonary edema 肺水腫 pulmonary embolism 肺塞栓症 pulmonary[jpeds.or.jp]

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