1.One case of hereditary angioneurotic laryngeal edema.
Wei HUANG ; Heying YUE ; Hua HU
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2013;27(21):1222-1222
Hereditary angioneurotic laryngeal edema (HALE) is an autosomal dominant hereditary disease in which there is a decrease or defect in the C1 inhibitor (C1-INH). The pathophysiology of HALE is characterized by recurrent spontaneous episodes of transient edema of the laryngeal mucose and submucosal tissue with remission at irregular. Patients may die because of a life-threatening acute upper airway obstruction caused by laryngeal edema. HALE was diagnosed on the clinical symptoms, family history, and markedly decreased serum C1-INH activity and C1-INH protein.
Angioedemas, Hereditary
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diagnosis
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Complement C1 Inactivator Proteins
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analysis
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metabolism
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Complement C1 Inhibitor Protein
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Humans
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Laryngeal Edema
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diagnosis
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Recurrence
2.Identification of a novel mutation of C1 inhibitor gene in a Chinese family with hereditary angioedema.
Yu-xiang ZHI ; Hong-yu ZHANG ; Shang-zhi HUANG
Acta Academiae Medicinae Sinicae 2003;25(6):664-666
OBJECTIVETo identify the mutation of C1 inhibitor (C1 INH) gene in a Chinese family with hereditary angioedema (HAE).
METHODSPolymerase chain reaction and direct sequencing were used to identify the mutation type. The sequencing results were compared with the normal sequences in GenBank to find the mutation. In order to exclude the polymorphism, 30 normal volunteers were analyzed.
RESULTSOne novel mutation (17839 del C) was detected in 5 patients with HAE. The mutation was not found in controls.
CONCLUSIONThe mutation of C1 INH gene (17839 del C) is identified in the family. Molecular diagnosis can be made by detecting the mutation.
Angioedema ; genetics ; Chromosomes, Human, Pair 11 ; genetics ; Complement C1 ; genetics ; Complement C1 Inactivator Proteins ; genetics ; Exons ; Family Health ; Female ; Humans ; Male ; Pedigree ; Point Mutation ; Sequence Deletion
3.Angioedema and systemic lupus erythematosus--a complementary association?
Manjari LAHIRI ; Anita Y N LIM
Annals of the Academy of Medicine, Singapore 2007;36(2):142-145
INTRODUCTIONWe report angioedema as a rare presentation leading to a diagnosis of systemic lupus erythematosus (SLE).
CLINICAL PICTUREA diagnosis of angioedema was delayed in a patient presenting with limb and facial swelling until she developed acute upper airway compromise. After excluding allergic and hereditary angioedema, acquired angioedema (AAE) was suspected, possibly precipitated by respiratory tract infection. Associated clinical and laboratory features led to a diagnosis of SLE.
TREATMENTManagement proved challenging and included high dose steroids and immunosuppressants.
OUTCOMEThe patient responded to treatment and remains in remission without recurrence of the angioedema.
CONCLUSIONAAE occurs due to the acquired deficiency of inhibitor of C1 component of complement (C1 INH). Lymphoproliferative disorders and anti-C1 INH antibodies are well-described associations. However, one should also consider the possibility of SLE.
Angioedema ; blood ; etiology ; physiopathology ; therapy ; Antiphospholipid Syndrome ; diagnosis ; etiology ; Brain ; pathology ; Complement C1 Inactivator Proteins ; analysis ; deficiency ; Female ; Humans ; Lupus Erythematosus, Systemic ; complications ; diagnosis ; etiology ; Magnetic Resonance Imaging ; Middle Aged ; Respiration, Artificial ; Respiratory Insufficiency ; etiology ; therapy
4.Angioedema due to acquired type of C1 esterase inhibitor deficiency.
Korean Journal of Medicine 2006;70(3):347-348
No abstract available.
Angioedema*
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Angioedemas, Hereditary*
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Complement C1 Inhibitor Protein*
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Complement C1s*
5.A Case of Hereditary Angioedema in a 7-Year-Old Korean Girl.
Allergy, Asthma & Immunology Research 2013;5(1):59-61
Hereditary angioedema (HAE) is a rare autosomal dominant disease that usually occurs in adolescence and early adulthood. It is characterized by recurrent non-pitting edema involving the skin and intestinal tract, especially the extremities and face. It is not associated with urticaria and pruritus. The cause is known to be the deficiency of C1 inhibitor. We herein report a 7-year-old girl with HAE who had recurrent episodes of swelling of the extremities and face without urticaria and pruritus. Her great grandmother had suffered from the same symptoms. The level of serum C4 was 8.01 mg/dL (normal: 10-40 mg/dL). The level of C1 inhibitor was 5.0 mg/dL (normal: 18-40 mg/dL). To our knowledge, this is the first pediatric case with typical clinical symptoms of HAE and C1 esterase inhibitor deficiency in Korea.
Adolescent
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Angioedema
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Angioedemas, Hereditary
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Complement C1 Inhibitor Protein
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Edema
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Extremities
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Humans
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Korea
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Pruritus
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Skin
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Urticaria
8.A case of acquired angioedema with C1 esterase inhibitor deficiency.
Chang Young HA ; Sun Sin KIM ; Hun Jong KIM ; Dong Suk HAN ; Jae Woong CHO ; Hyuck Jun CHUNG ; Hee Yeon KIM ; Dong Ho NAHM ; Hae Sim PARK
Journal of Asthma, Allergy and Clinical Immunology 1999;19(2):224-228
Angioedema is a well-demarcated localized edema involving the deeper layers of the skin, including the subcutaneous tissue. Angioedema occurs with Cl esterase inhibitor (Cl INH) deficiency that may be inborn as an autosomal dominant characteristic or may be acquired. Acquired angioedema (AAE) is a rare disorder characterized by adult onset and lack of evidence of inheritance of the disease. Two types of AAE are known today: type I in which there are lowering of functional Cl INH, an underlying disease such as a B-cell disease, and no detectable autoantibodies to Cl INH, type II with anti Cl INH autoantibodies in the circulation without detectable underlying disease and with depressed functional Cl INH levels. We experienced a case of angioedema in a 29-year old man. He had no family history of angioedema and laboratory data showed depressed Cl-INH levels. We diagnosed the case as acquired type of angioedema. Even though we could not measure anti-Cl INH auto-antibodies, we identified the case as type II because there was no evidence of underlying disease.
Adult
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Angioedema*
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Angioedemas, Hereditary*
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Autoantibodies
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B-Lymphocytes
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Complement C1 Inhibitor Protein*
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Complement C1s*
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Edema
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Humans
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Skin
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Subcutaneous Tissue
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Wills
9.A Case of hereditary Angioedema.
Yong Suk LEE ; Jin Ho CHUNG ; Kwang Hyun CHO ; Jai Il YOUN
Korean Journal of Dermatology 1994;32(1):115-118
We report a case of hereditary angioedema in a 48-year old female patient. She experidenced facial edema and dyspnea 5 to 6 times for a year. Similar episodes developed on some members of her family, especially her sisters and father. We examined her and her sister's serum complement levels. The results showed decreased levels of C1 esterase inhibitor and C4, compared to normal levels. We treated the patient with danazol effectively.
Angioedemas, Hereditary*
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Complement C1 Inhibitor Protein
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Complement System Proteins
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Danazol
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Dyspnea
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Edema
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Fathers
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Female
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Humans
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Middle Aged
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Siblings
10.Comparative Analysis of Serum Proteomes of Moyamoya Disease and Normal Controls.
Eun Jeong KOH ; Han Na KIM ; Tian Ze MA ; Ha Young CHOI ; Yong Geun KWAK
Journal of Korean Neurosurgical Society 2010;48(1):8-13
OBJECTIVE: The etiology and pathogenesis of moyamoya disease remain unclear. Furthermore, the definitive diagnostic protein-biomarkers for moyamoya disease are still unknown. The present study analyzed serum proteomes from normal controls and moyamoya patients to identify novel serological biomarkers for diagnosing moyamoya disease. METHODS: We compared the two-dimensional electrophoresis patterns of sera from moyamoya disease patients and normal controls and identified the differentially-expressed spots by matrix-assisted laser desorption/ionization-time-of flight mass spectrometry and electrospray ionization quadruple time-of-flight mass spectrometry. RESULTS: We found and analyzed 22 differently-expressed proteomes. Two proteins were up-regulated. Twenty proteins were down-regulated. Complement C1 inhibitor protein and apolipoprotein C-III showed predominantly changed expressions (complement C1 inhibitor protein averaged a 7.23-fold expression in moyamoya patients as compared to controls, while apolipoprotein C-III averaged a 0.066-fold expression). CONCLUSION: Although our study had a small sample size, our proteomic data provide serologic clue proteins for understanding moyamoya disease.
Apolipoprotein C-III
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Biomarkers
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Complement C1 Inhibitor Protein
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Electrophoresis
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Humans
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Mass Spectrometry
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Moyamoya Disease
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Proteins
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Proteome
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Sample Size