WordNet

more than is needed, desired, or required; "trying to lose excess weight"; "found some extra change lying on the dresser"; "yet another book on heraldry might be thought redundant"; "skills made redundant by technological advance"; "sleeping in the spare room"; "supernumerary ornamentation"; "it was supererogatory of her to gloat"; "delete superfluous (or unnecessary) words"; "extra ribs as well as other supernumerary internal parts"; "surplus cheese distributed to the needy" (同)extra, redundant, spare, supererogatory, superfluous, supernumerary, surplus
immoderation as a consequence of going beyond sufficient or permitted limits (同)excessiveness, inordinateness
a quantity much larger than is needed (同)surplus, surplusage, nimiety
appearing as such but not necessarily so; "for all his apparent wealth he had no money to pay the rent"; "the committee investigated some apparent discrepancies"; "the ostensible truth of their theories"; "his seeming honesty" (同)ostensible, seeming
clearly revealed to the mind or the senses or judgment; "the effects of the drought are apparent to anyone who sees the parched fields"; "evident hostility"; "manifest disapproval"; "patent advantages"; "made his meaning plain"; "it is plain that he is no reactionary"; "in plain view" (同)evident, manifest, patent, plain, unmistakable
a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
hormone that is one of the steroids of the adrenal cortex that influences the metabolism of sodium and potassium

PrepTutorEJDIC

〈U〉《時にan~》(…の…に対する)超過《+『of』+『名』+『over』+『名』》 / 〈U〉(…の)『不節制』《+『at』+『名,』+『in』 do『ing』》;《複数形で》度を超えた行為,不行跡;暴飲,暴食 / 超過の,余分の
『明白な』,はっきりした / 『外見上の』,見かけの,うわべの
(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/29 10:16:11」(JST)

wiki en

Apparent mineralocorticoid excess (AME) is an autosomal recessive^[1] disorder causing hypertension (high blood pressure) and hypokalemia (abnormally low levels of potassium). The condition responds to glucocorticoid treatment. It results from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11β-hydroxysteroid dehydrogenase type 2. In an unaffected individual, this isozyme inactivates circulating cortisol to the less-active metabolite cortisone. The inactivating mutation leads to elevated local concentrations of cortisol in the kidney. Cortisol at high concentrations can cross-react and activate the mineralocorticoid receptor, leading to aldosterone-like effects in the kidney. This is what causes the hypokalemia, hypertension, and hypernatremia associated with the syndrome.

Other conditions such as Liddle's Syndrome can mimic the clinical features of AME, so diagnosis can be made by calculating the ratio of free urinary cortisol to free urinary cortisone. Since AME patients create less cortisone, the ratio will much be higher than non-affected patients.^[2] Alternatively, one could differentiate between the two syndromes by administering a potassium-sparing diuretic. Patients with Liddle's syndrome will only respond to a diuretic that binds the ENaC channel, whereas those with AME will respond to a diuretic that binds to ENaC or the mineralcorticoid receptor.

AME is exceedingly rare, with less than 100 cases recorded worldwide.^[2]

Liquorice consumption may also cause a temporary form of AME due to its ability to block 11β-hydroxysteroid dehydrogenase type 2, in turn causing increased levels of cortisol.^[3] Cessation of licorice consumption will reverse this form of AME.

Genetics

Apparent mineralocorticoid excess syndrome has an autosomal recessive pattern of inheritance.

AME is inherited in an autosomal recessive manner.^[1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

References

^ ^a ^b Levtchenko, E. N.; Deinum, J.; Knoers, N. V.; Hermus, A. R.; Monnens, L. A.; Lenders, J. W. (Mar 2007). "From gene to disease; 'apparent mineralocorticoid excess' syndrome, a syndrome with an apparent excess of mineral corticoids". Nederlands tijdschrift voor geneeskunde 151 (12): 692–694. PMID 17447595. edit
^ ^a ^b Palermo M, Quinkler M, Stewart PM. (Oct 2004). "Apparent mineralocorticoid excess syndrome: an overview.". Arq Bras Endocrinol Metabol 48 (5): 687–696. doi:10.1590/S0004-27302004000500015. PMID 15761540.
^ Weizmann Institute of Science > GeneCards > hydroxysteroid (11-beta) dehydrogenase 2 Retrieved on Feb 27, 2010. Cite: Consumption of large amounts of liquorice can lead to apparent mineralocorticoid excess and hypertension

External links

Apparent mineralocorticoid excess at NIH's Office of Rare Diseases

UpToDate Contents

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1. 見かけの鉱質コルチコイド過剰（AME）症候群（長期甘草摂取を含む） apparent mineralocorticoid excess syndromes including chronic licorice ingestion
2. 腎集合管ナトリウムチャンネルの遺伝的障害：リドル症候群および偽性低アルドステロン症1型 genetic disorders of the collecting tubule sodium channel liddles syndrome and pseudohypoaldosteronism type 1
3. 小児における低カリウム血症 hypokalemia in children
4. 腎性尿崩症の臨床症状および原因 clinical manifestations and causes of nephrogenic diabetes insipidus
5. 小児および思春期年における高血圧の疫学、危険因子、および原因 epidemiology risk factors and etiology of hypertension in children and adolescents

English Journal

Inherited secondary nephrogenic diabetes insipidus: concentrating on humans.

Bockenhauer D, Bichet DG.SourceUCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom. d.bockenhauer@ucl.ac.uk
American journal of physiology. Renal physiology.Am J Physiol Renal Physiol.2013 Apr 15;304(8):F1037-42. doi: 10.1152/ajprenal.00639.2012. Epub 2013 Jan 30.
The study of human physiology is paramount to understanding disease and developing rational and targeted treatments. Conversely, the study of human disease can teach us a lot about physiology. Investigations into primary inherited nephrogenic diabetes insipidus (NDI) have contributed enormously to o
PMID 23364801

Apparent mineralocorticoid excess (AME) syndrome.

Parvez Y, Sayed OE.SourceDepartment of Pediatrics, Pediatric Intensive Care Unit, Al-Jahra Hospital, Kuwait. dryparvez@gmail.com
Indian pediatrics.Indian Pediatr.2013 Apr;50(4):416-8.
Apparent mineralocorticoid excess (AME) syndrome is a rare autosomal recessive disorder due to the deficiency of 11b hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). Mutations in this gene affect the enzymatic activity resulting to an excess of cortisol, which causes its inappropriate acces
PMID 23665601

11Beta-hydroxylase deficiency and other syndromes of mineralocorticoid excess as a rare cause of endocrine hypertension.

Melcescu E, Phillips J, Moll G, Subauste JS, Koch CA.SourceDivision of Endocrinology, Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme.Horm Metab Res.2012 Nov;44(12):867-78. doi: 10.1055/s-0032-1321851. Epub 2012 Aug 29.
Hypertension represents a major public and global health problem, most of which likely can be improved by lifestyle changes including changing dietary habits with less consumption of processed and preserved foods, which generally contain higher amounts of salt than freshly prepared food items. Among
PMID 22932914