Presentation
Here, we present a patient with severe muscle fatigue, normal blood pressure, and abnormal high saliva cortisol levels following a standardized stress test. [ncbi.nlm.nih.gov]
Both autosomal dominant and autosomal recessive inheritance have been reported. [1] [2] While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists. [rarediseases.info.nih.gov]
Presents the fundamental theoretical and practical aspects of Alpha-1 Antitrypsin Deficiency (AATD) based on scientific evidence Provides evidence to show that AATD is a rarely diagnosed condition, rather than a rare condition Contains current research [books.google.com]
Entire Body System
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Chronic Fatigue Syndrome
Five cases met the Centers for Disease Control criteria for chronic fatigue syndrome. Fatigue questionnaires revealed scores of 25.1 /- 2.5 in 18 adults with the mutation vs. 4.2 /- 1.5 in 23 healthy controls (P 0.0001). [ncbi.nlm.nih.gov]
Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. [rarediseases.info.nih.gov]
Some people with corticosteroid-binding globulin deficiency also have a condition called chronic fatigue syndrome. [ghr.nlm.nih.gov]
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Malnutrition
For example, states of protein malnutrition, observed in chronic liver or renal diseases, gastrointestinal malnutrition, anorexia, marasmus, and kwashiorkor, are associated with secondary TBG deficiency. [emedicine.medscape.com]
Low values Low albumin levels may be caused by: A poor diet (malnutrition). Kidney disease. Liver disease. An autoimmune disease, such as lupus or rheumatoid arthritis. Gastrointestinal malabsorption syndromes, such as sprue or Crohn's disease. [northshore.org]
Angiography with venous sampling for insulin levels (80%) Tumor types: Insulinoma (80%); Islet cell carcinoma (10%); MEN1 syndrome with multiple tumors Gynecomastia & Neuromuscular Bulbospinal muscular atrophy Adrenomyeloneuropathy Recovery from severe malnutrition [neuromuscular.wustl.edu]
Increased circulating SHBG levels have been shown to be associated with malnutrition, cachexia, anorexia nervosa, some cancers, anabolic deficiency, and a predominance of catabolism. [revespcardiol.org]
Respiratoric
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Sore Throat
The features of chronic fatigue syndrome are prolonged fatigue that interferes with daily activities, as well as general symptoms, such as sore throat or headaches. [ghr.nlm.nih.gov]
This condition involves prolonged episodes of extreme tiredness (fatigue) that can last for months and interfere with daily activities, as well as general symptoms, such as sore throat or headaches. [forums.phoenixrising.me]
Psychiatrical
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Suggestibility
Rodent studies suggest that corticosteroid-binding globulin (CBG) modulates glucocorticoid action in adipose tissue. In humans, both genetic CBG deficiency and suppressed CBG concentrations in hyperinsulinemic states are associated with obesity. [ncbi.nlm.nih.gov]
The literature suggests 47 to 59 mcg/mL as the range of TBG values expected during the third trimester of pregnancy. [mayomedicallaboratories.com]
These results suggest that dedifferentiation of endometrial cancers induces a reduction in intracellular CBG synthesis [3]. [wikigenes.org]
Their role in patients with HF with a deranged balance between anabolic and catabolic stimuli may suggest an interesting therapeutic approach, though further studies are warranted. SEE ARTICLE ON PAGES 1381-7 Correspondence: E.A. [revespcardiol.org]
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Withdrawn
[…] symbols: CBG ) Mouse Orthologs Serpina6 (Withdrawn symbols: AI265318, AV104445, Cbg ) Source OMIM:611489 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse [mousephenotype.org]
Treatment
Blanco’s Overview of Alpha-1 Antitrypsin Deficiency: History, Biology, Pathophysiology, Related Diseases, Diagnosis, and Treatment is a robust introduction to topics associated with Alpha-1 Antitrypsin Deficiency (AATD). [books.google.com]
Both autosomal dominant and autosomal recessive inheritance have been reported. [1] [2] While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists. [rarediseases.info.nih.gov]
Prognosis
Scapular winging Fasciculations Rhabdomyolysis : With thyroid storm Bulbar syndrome: Dysphagia Tendon reflexes : Brisk Lab High T 3 or T 4 CK: Normal or low EMG: Myopathic; Fasciculations or fibrillations Muscle pathology: Normal or type 2 atrophy Prognosis [neuromuscular.wustl.edu]
[…] but not in human immunodeficiency virus/acquired immunodeficiency syndrome [HIV/AIDS] or acute intermittent porphyria) [3] Malnutrition Acromegaly (in very rare cases only) [4, 5] Cushing syndrome Drugs (eg, androgens, glucocorticoids, L-asparaginase) Prognosis [thehealthscience.com]
Etiology
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
The etiologic basis for this association remains unclear. [emedicine.medscape.com]
Epidemiology
Respir-Med. 2000 Aug; 94 Suppl C: S18-21 Miravitlles-M Alpha1-antitrypsin deficiency: epidemiology and prevalence. [malattierare.regione.veneto.it]
Sensory-Motor neuropathy SPG 22 Ataxia May increase risk of: Statin myopathy External links eMedicine Hyperthyroidism Epidemiology Female Male Onset: Average 5th decade Myopathy (80%) Onset Slowly progressive; More common with increasing age Acute onset [neuromuscular.wustl.edu]
Epidemiology of sepsis syndrome in 8 academic medical centers: academic medical center consortium sepsis project working group. JAMA 1997;278:234-40. Angus DC, Wax RS. Epidemiology of sepsis: an update. Crit Care Med 2001;29:S109-16. [medscape.com]
Epidemiology The prevalence of inherited complete thyroxine-binding globulin (TBG) deficiency is approximately 1 case per 15,000 male births, while the prevalence of inherited partial TBG deficiency is 1 case per 4000 newborns. [emedicine.medscape.com]
Pathophysiology
Blanco’s Overview of Alpha-1 Antitrypsin Deficiency: History, Biology, Pathophysiology, Related Diseases, Diagnosis, and Treatment is a robust introduction to topics associated with Alpha-1 Antitrypsin Deficiency (AATD). [books.google.com]
Interpretation Provides information to assist in interpretation of the test results A change in thyroxine-binding globulin (TBG) concentration may be of hereditary, pathophysiologic, or pharmacologic origin. [mayomedicallaboratories.com]
Miech RP (2005) Pathophysiology of mifepristone-induced septic shock due to Clostridium sordellii. Ann Pharmacother 39: 1483–1488 CrossRef PubMed Google Scholar 39. [doi.org]
[…] keratitis Drugs: Prednisone; Cyclosporine; Pentoxifylline Treat thyroid disorder Orbital radiation: for acute disease & active inflammation Orbital decompression Indications: Compressive optic neuropathy, Keratopathy, Cosmesis Often with Prednisone Pathophysiology [neuromuscular.wustl.edu]
The role of the host defence response in the progression and outcome of ARDS: pathophysiological correlations and response to glucocorticoid treatment. Eur Respir J 1996;9:2650-70. [medscape.com]
Prevention
SERPINA6 gene mutations often decrease the CBG protein's ability to bind to cortisol; some severe mutations prevent the production of any CBG protein. [ghr.nlm.nih.gov]
PREVENTION OF TB IN TRANSPLANT RECIPIENTS Effective pre-transplant screening for LTBI may prevent significant morbidity and mortality post-transplant by identifying individuals at risk for reactivation disease. [erj.ersjournals.com]
Centers for Disease Control and Prevention [medlineplus.gov]
The mutations that cause corticosteroid-binding globulin deficiency often decrease the CBG protein's ability to bind to cortisol; some severe mutations prevent the production of any CBG protein. [forums.phoenixrising.me]
This gave a vaccine efficacy for prevention of herpes zoster of 69.8% (95% CI, 54.1% - 80.6%.) [canada.ca]