WordNet
- relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
- occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
PrepTutorEJDIC
- 家族の,家族特有の / 違伝的な,血統にあらわれる
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2012/11/26 14:13:05」(JST)
[Wiki en表示]
Familial dysalbuminemic hyperthyroxinemia |
Classification and external resources |
OMIM |
103600 |
DiseasesDB |
32942 |
MeSH |
D050010 |
Familial dysalbuminemic hyperthyroxinemia is a type of hyperthyroxinemia associated with mutations in the human serum albumin gene.[1]
The term was introduced in 1982.[2]
References
- ^ Petitpas I, Petersen CE, Ha CE, et al. (May 2003). "Structural basis of albumin–thyroxine interactions and familial dysalbuminemic hyperthyroxinemia". Proc. Natl. Acad. Sci. U.S.A. 100 (11): 6440–5. doi:10.1073/pnas.1137188100. PMC 164465. PMID 12743361. http://www.pnas.org/cgi/pmidlookup?view=long&pmid=12743361.
- ^ Ruiz M, Rajatanavin R, Young RA, et al. (March 1982). "Familial dysalbuminemic hyperthyroxinemia: a syndrome that can be confused with thyrotoxicosis". N. Engl. J. Med. 306 (11): 635–9. doi:10.1056/NEJM198203183061103. PMID 6173750.
Endocrine pathology: endocrine diseases (E00–E35, 240–259)
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Pancreas/
glucose
metabolism |
Hypofunction |
- types:
- type 1
- type 2
- MODY 1 2 3 4 5 6
- complications
- coma
- angiopathy
- ketoacidosis
- nephropathy
- neuropathy
- retinopathy
- cardiomyopathy
- insulin receptor (Rabson–Mendenhall syndrome)
- Insulin resistance
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Hyperfunction |
- Hypoglycemia
- beta cell (Hyperinsulinism)
- G cell (Zollinger–Ellison syndrome)
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Hypothalamic/
pituitary axes |
Hypothalamus |
- gonadotropin
- Kallmann syndrome
- Adiposogenital dystrophy
- CRH (Tertiary adrenal insufficiency)
- vasopressin (Neurogenic diabetes insipidus)
- general (Hypothalamic hamartoma)
|
|
Pituitary |
Hyperpituitarism |
- anterior
- Acromegaly
- Hyperprolactinaemia
- Pituitary ACTH hypersecretion
- posterior (SIADH)
- general (Nelson's syndrome)
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|
Hypopituitarism |
- anterior
- Kallmann syndrome
- Growth hormone deficiency
- ACTH deficiency/Secondary adrenal insufficiency
- GnRH insensitivity
- FSH insensitivity
- LH/hCG insensitivity
- posterior (Neurogenic diabetes insipidus)
- general
- Empty sella syndrome
- Pituitary apoplexy
- Sheehan's syndrome
- Lymphocytic hypophysitis
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|
|
Thyroid |
Hypothyroidism |
- Iodine deficiency
- Cretinism
- Congenital hypothyroidism
- Myxedema
- Euthyroid sick syndrome
|
|
Hyperthyroidism |
- Hyperthyroxinemia
- Thyroid hormone resistance
- Familial dysalbuminemic hyperthyroxinemia
- Hashitoxicosis
- Thyrotoxicosis factitia
- Graves' disease
|
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Thyroiditis |
- Acute infectious
- Subacute
- De Quervain's
- Subacute lymphocytic
- Autoimmune/chronic
- Hashimoto's
- Postpartum
- Riedel's
|
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Goitre |
- Endemic goitre
- Toxic nodular goitre
- Toxic multinodular goiter
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|
|
Parathyroid |
Hypoparathyroidism |
- Hypoparathyroidism
- Pseudohypoparathyroidism
- Pseudopseudohypoparathyroidism
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Hyperparathyroidism |
- Primary
- Secondary
- Tertiary
- Osteitis fibrosa cystica
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Adrenal |
Hyperfunction |
- aldosterone: Hyperaldosteronism/Primary aldosteronism
- Conn syndrome
- Bartter syndrome
- Glucocorticoid remediable aldosteronism
- AME
- Liddle's syndrome
- 17α CAH
- cortisol: Cushing's syndrome (Pseudo-Cushing's syndrome)
- sex hormones: 21α CAH
- 11β CAH
|
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Hypofunction/
Adrenal insufficiency
(Addison's, WF) |
- aldosterone: Hypoaldosteronism
|
|
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Gonads |
- ovarian: Polycystic ovary syndrome
- Premature ovarian failure
- testicular: enzymatic
- 5α-reductase deficiency
- 17β-hydroxysteroid dehydrogenase deficiency
- aromatase excess syndrome)
- Androgen receptor (Androgen insensitivity syndrome
- general: Hypogonadism (Delayed puberty)
- Hypergonadism
- Hypoandrogenism
- Hypoestrogenism
- Hyperandrogenism
- Hyperestrogenism
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Height |
- Dwarfism/Short stature
- Laron syndrome
- Psychosocial
- Gigantism
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Multiple |
- Autoimmune polyendocrine syndrome
- Carcinoid syndrome
- Multiple endocrine neoplasia
- Progeria
- Werner syndrome
- Acrogeria
- Metageria
- Woodhouse-Sakati syndrome
|
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noco(d)/cong/tumr, sysi/epon
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proc, drug (A10/H1/H2/H3/H5)
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UpToDate Contents
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English Journal
- Free thyroxine concentrations in sera of individuals with Familial Dysalbuminemic Hyperthyroxinemia: a comparison of three methods of measurement.
- Refetoff S, Scherberg N, Yuan C, Wu W, Wu Z, McPhaul MJ.
- Thyroid : official journal of the American Thyroid Association. 2019 Dec;().
- Euthyroid individuals with Familial Dysalbuminemic Hyperthyroxinemia (FDH) have often falsely elevated serum free T4 (FT4) concentrations determined by different automated immunoassays. We measured serum FT4 using direct dialysis coupled with tandem mass spectrometry (FT4 DDMS) in individuals with t
- PMID 31822224
- A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia.
- Liu H, Ran J, Chen C, Chen G, Zhu P, Tan R, Liu Y.
- International journal of endocrinology. 2019 ;2019()5947415.
- Familial dysalbuminemic hyperthyroxinemia (FDH) has now become an established cause for spurious asymptomatic hyperthyroxinemia. Several different codon mutations on albumin gene had been identified. We here provided an established but rarely reported heterozygous mutation based on gene sequencing r
- PMID 31582975
- Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations.
- Mimoto MS, Refetoff S.
- Journal of endocrinological investigation. 2019 Jul;().
- There are three important thyroid hormone-binding proteins in human serum, thyroxine-binding globulin, transthyretin, and albumin. Genetic variation in these proteins can lead to altered thyroid hormone binding and abnormalities in serum tests of thyroid hormone. Importantly, patients harboring thes
- PMID 31352644
Japanese Journal
- Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia
- 家族性異常アルブミン性高サイロキシン血症 : 日本人家系と最近の研究成果
- 千葉 仁志,和田 典男
- 生物物理化学 = Journal of Electrophoresis 44(4), 301-302, 2000-12-15
- NAID 10013221419
Related Links
- Familial dysalbuminemic hyperthyroxinemia information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. ... Familial dysalbuminemic hyperthyroxinemia ...
- To the Editor: Familial dysalbuminemic hyperthyroxinemia (FDH)1 is a well-characterized condition associated with increased circulating total thyroxine (T 4) concentrations and normal physiological thyroid function. It is caused by ...
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★リンクテーブル★
[★]
- 英
- familial dysalbuminemic hyperthyroxinemia
- 関
- 家族性アルブミン異常高チロキシン血症
[★]
- 英
- familial dysalbuminemic hyperthyroxinemia
- 関
- 家族性アルブミン異常過チロキシン血症
[★]
- 関
- family、family member、household、kindred
[★]
高チロキシン血症、過チロキシン血症、高サイロキシン血症