メイ・ヘグリン異常
WordNet
- deviation from the normal or common order or form or rule (同)anomalousness
- a person who is unusual (同)unusual person
- (astronomy) position of a planet as defined by its angular distance from its perihelion (as observed from the sun)
- the 13th letter of the Roman alphabet (同)m
- the month following April and preceding June
- United States baseball player (born in 1931) (同)Willie Mays, Willie Howard Mays Jr., Say Hey Kid
PrepTutorEJDIC
- 《現在・未来の事柄・可能性の推量》…『かもしれない』,たぶん…だろう,…のこともある;《「may have+過去分詞」の形で過去の事柄の推量》…した(だった)かもしれない,たぶん…だったろう / 《but節を伴って譲歩を表して》…『かもしれない』 / 《まれ》《疑問文で強い不確実の意を強めて》いったい…だろうか,…かしら / 《許可》…『してもよい』,してもさしつかえない / 《容認》…『しても』(『と言っても』)『さしつかえない』,…する(と言う)のももっともだ / 《能力》…『できる』 / 《文》《祈言・言望・のろい》…『することを祈る』,…しますように / 《おもに文》《言望・恐れなどの名詞節に》…するように,…しないかと / 《目的の副詞節に》…『するために』,…できるように / 《譲歩の副詞節に》『[たとえ]…であっても』,…かもしれないが
- 〈U〉〈C〉変則,例外;異常 / 〈C〉変則的な事態,異例な人(物)
- Mach number / mark[s] / Monsieur
- 『5月』
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/08/08 15:40:36」(JST)
[Wiki en表示]
| May–Hegglin anomaly |
| Classification and external resources |
|
| ICD-10 |
D72.0 |
| ICD-9 |
288.2 |
| OMIM |
155100 |
| DiseasesDB |
29517 |
| eMedicine |
ped/1383 |
May–Hegglin anomaly (MHA), also known as Dohle leukocyte inclusions with giant platelets and macrothrombocytopenia with leukocyte inclusions,[1] is a rare genetic disorder of the blood platelets that causes them to be abnormally large.
Contents
- 1 History
- 2 Pathogenesis
- 3 Presentation
- 4 Treatment
- 5 References
History
MHA is named for German physician Richard May (January 7, 1863 – 1936) and Swiss physician Robert Hegglin.[2][3][4] The disorder was first described by Richard May in 1909 and was subsequently described by Robert Hegglin in 1945.
Pathogenesis
MHA is believed to be associated with the MYH9 gene.[5] The pathogenesis of the disorder had been unknown until recently, when autosomal dominant mutations in the gene encoding non-muscle myosin heavy chain IIA (MYH9) were identified. Unique cytoplasmic inclusion bodies are aggregates of nonmuscle myosin heavy chain IIA, and are only present in granulocytes. It is not yet known why inclusion bodies are not present in platelets, monocytes, and lymphocytes, or how giant platelets are formed. Interestingly, MYH9 is also found to be responsible for several related disorders with macrothrombocytopenia and leukocyte inclusions, including Sebastian, Fechtner, and Epstein syndromes, which feature deafness, nephritis, and/or cataract.[5] MHA is also a feature of the Alport syndrome (hereditary nephritis with sensorineural hearing loss).
Presentation
In the leukocytes, the presence of very small rods (around 3 micrometers), or Dohle bodies can be seen in the cytoplasm.
Treatment
In many cases, MHA requires no treatment. However, in extreme cases, blood platelet transfusions may be necessary
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 155100
- ^ synd/113 at Who Named It?
- ^ R. May. Leukocyteneinschlüsse. Kasuistische Mitteilung. Deutsches Archiv für klinische Medizin, Leipzig, 1909, 96: 1-6.
- ^ R. Hegglin. Über eine neue Form einer konstitutionellen Leukozytenanomalie, kombiniert mit Throbopathie. Schweizerische medizinische Wochenschrift, Basel, 1945, 75: 91-92.
- ^ a b Saito, H.; Kunishima, S. (Apr 2008). "Historical hematology: May-Hegglin anomaly". American Journal of Hematology 83 (4): 304–306. doi:10.1002/ajh.21102. ISSN 0361-8609. PMID 17975807. edit
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Pathology: hematology, hematologic diseases of RBCs and megakaryocytes / MEP (D50-69,74, 280-287)
|
|
Red
blood cells |
| ↑ |
|
|
| ↓ |
| Anemia |
| Nutritional |
- Micro-: Iron deficiency anemia
- Macro-: Megaloblastic anemia
|
|
Hemolytic
(mostly Normo-) |
| Hereditary |
- enzymopathy: G6PD
- glycolysis
- hemoglobinopathy: Thalassemia
- Sickle-cell disease/trait
- HPFH
- membrane: Hereditary spherocytosis
- Minkowski-Chauffard syndrome
- Hereditary elliptocytosis
- Southeast Asian ovalocytosis
- Hereditary stomatocytosis
|
|
| Acquired |
- Drug-induced autoimmune
- Drug-induced nonautoimmune
- Hemolytic disease of the newborn
|
|
|
Aplastic
(mostly Normo-) |
- Hereditary: Fanconi anemia
- Diamond–Blackfan anemia
- Acquired: PRCA
- Sideroblastic anemia
- Myelophthisic
|
|
| Blood tests |
- MCV
- Normocytic
- Microcytic
- Macrocytic
- MCHC
|
|
|
| Other |
- Methemoglobinemia
- Sulfhemoglobinemia
- Reticulocytopenia
|
|
|
|
Coagulation/
coagulopathy |
| ↑ |
Hyper-
coagulability |
- primary: Antithrombin III deficiency
- Protein C deficiency/Activated protein C resistance/Protein S deficiency/Factor V Leiden
- Prothrombin G20210A
- Sticky platelet syndrome
- acquired:Thrombocytosis
- DIC
- Congenital afibrinogenemia
- Purpura fulminans
- autoimmune
|
|
|
| ↓ |
Hypo-
coagulability |
| Thrombocytopenia |
- Thrombocytopenic purpura: ITP
- TM
- Heparin-induced thrombocytopenia
- May-Hegglin anomaly
|
|
| Platelet function |
- adhesion
- aggregation
- Glanzmann's thrombasthenia
- platelet storage pool deficiency
- Hermansky–Pudlak syndrome
- Gray platelet syndrome
|
|
| Clotting factor |
- Hemophilia
- von Willebrand disease
- Hypoprothrombinemia/II
- XIII
- Dysfibrinogenemia
|
|
|
|
|
|
|
cell/phys (coag, heme, immu, gran), csfs
|
rbmg/mogr/tumr/hist, sysi/epon, btst
|
drug (B1/2/3+5+6), btst, trns
|
|
|
|
|
Cytoskeletal defects
|
|
| Microfilaments |
| Myofilament |
| Actin |
- Hypertrophic cardiomyopathy 11
- Dilated cardiomyopathy 1AA
- DFNA20
- Nemaline myopathy 3
|
|
| Myosin |
- Elejalde syndrome
- Hypertrophic cardiomyopathy 1, 8, 10
- Usher syndrome 1B
- Freeman–Sheldon syndrome
- DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
- May-Hegglin anomaly
|
|
| Troponin |
- Hypertrophic cardiomyopathy 7, 2
- Nemaline myopathy 4, 5
|
|
| Tropomyosin |
- Hypertrophic cardiomyopathy 3
- Nemaline myopathy 1
|
|
| Titin |
- Hypertrophic cardiomyopathy 9
|
|
|
| Other |
- Fibrillin
- Marfan syndrome
- Weill-Marchesani syndrome
- Filamin
- FG syndrome 2
- Boomerang dysplasia
- Larsen syndrome
- Terminal osseous dysplasia with pigmentary defects
|
|
|
| IF |
| 1/2 |
- Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1
- Striate palmoplantar keratoderma 3
- Epidermolytic hyperkeratosis
- IHCM
- KRT2E (Ichthyosis bullosa of Siemens)
- KRT3 (Meesmann juvenile epithelial corneal dystrophy)
- KRT4 (White sponge nevus)
- KRT5 (Epidermolysis bullosa simplex)
- KRT8 (Familial cirrhosis)
- KRT10 (Epidermolytic hyperkeratosis)
- KRT12 (Meesmann juvenile epithelial corneal dystrophy)
- KRT13 (White sponge nevus)
- KRT14 (Epidermolysis bullosa simplex)
- KRT17 (Steatocystoma multiplex)
- KRT18 (Familial cirrhosis)
- KRT81/KRT83/KRT86 (Monilethrix)
- Naegeli–Franceschetti–Jadassohn syndrome
- Reticular pigmented anomaly of the flexures
|
|
| 3 |
- Desmin: Desmin-related myofibrillar myopathy
- Dilated cardiomyopathy 1I
- Peripherin: Amyotrophic lateral sclerosis
|
|
| 4 |
- Neurofilament: Parkinson's disease
- Charcot–Marie–Tooth disease 1F, 2E
- Amyotrophic lateral sclerosis
|
|
| 5 |
- Laminopathy: LMNA
- Mandibuloacral dysplasia
- Dunnigan Familial partial lipodystrophy
- Emery-Dreifuss muscular dystrophy 2
- Limb-girdle muscular dystrophy 1B
- Charcot–Marie–Tooth disease 2B1
- LMNB
- Barraquer–Simons syndrome
- LEMD3
- Buschke–Ollendorff syndrome
- Osteopoikilosis
- LBR
- Pelger-Huet anomaly
- Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
|
|
| Microtubules |
| Kinesin |
- Charcot–Marie–Tooth disease 2A
- Hereditary spastic paraplegia 10
|
|
| Dynein |
- Primary ciliary dyskinesia
- Short rib-polydactyly syndrome 3
- Asphyxiating thoracic dysplasia 3
|
|
| Other |
- Tauopathy
- Cavernous venous malformation
|
|
|
| Membrane |
- Spectrin: Spinocerebellar ataxia 5
- Hereditary spherocytosis 2, 3
- Hereditary elliptocytosis 2, 3
Ankyrin: Long QT syndrome 4
- Hereditary spherocytosis 1
|
|
| Catenin |
- APC
- Gardner's syndrome
- Familial adenomatous polyposis
- plakoglobin (Naxos syndrome)
- GAN (Giant axonal neuropathy)
|
|
| Other |
- desmoplakin: Striate palmoplantar keratoderma 2
- Carvajal syndrome
- Arrhythmogenic right ventricular dysplasia 8
- plectin: Epidermolysis bullosa simplex with muscular dystrophy
- Epidermolysis bullosa simplex of Ogna
- plakophilin: Skin fragility syndrome
- Arrhythmogenic right ventricular dysplasia 9
- centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)
|
|
See also: cytoskeletal proteins
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
|
|
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- Successful immunostaining demonstrates abnormal intracytoplasmic MYH9 protein (NMMHC-IIA) in neutrophils of a dog with May-Hegglin anomaly.
- Flatland B, Kunishima S.
- Veterinary clinical pathology / American Society for Veterinary Clinical Pathology.Vet Clin Pathol.2011 Dec;40(4):409-10. doi: 10.1111/j.1939-165X.2011.00378.x.
- PMID 22136472
- Phosphorylation of the myosin IIA tailpiece regulates single myosin IIA molecule association with lytic granules to promote NK-cell cytotoxicity.
- Sanborn KB, Mace EM, Rak GD, Difeo A, Martignetti JA, Pecci A, Bussel JB, Favier R, Orange JS.SourceImmunology Graduate Group, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
- Blood.Blood.2011 Nov 24;118(22):5862-71.
- Natural killer (NK) cells are innate immune lymphocytes that provide critical defense against virally infected and transformed cells. NK-cell cytotoxicity requires the formation of an F-actin rich immunologic synapse (IS), as well as the polarization of perforin-containing lytic granules to the IS a
- PMID 22123909
- Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May-Hegglin, Sebastian, Fechtner and Epstein syndromes).
- Antonio G, Silvia V, Emanuela B, Fabrizio F.SourceDepartment of Medical and Surgical Sciences, University of Padua Medical School, Via Ospedale 105, Padua 35128, Italy. antonio.girolami@unipd.it
- Journal of thrombosis and thrombolysis.J Thromb Thrombolysis.2011 Nov;32(4):474-7.
- Congenital macrothrombocytopenia are a group of disorders which may be due to mutations in the MYH9 gene. This gene linked to chromosome 22 encodes for the nonmuscle heavy chain IIA that is expressed in platelets and in other tissues. In the past these disorders were known as May-Hegglin anomaly, Se
- PMID 21842307
Japanese Journal
- Alport 症状を伴った May-Hegglin 異常症の1透析導入例
- 渋谷 純,木谷 茜,黒田 達実
- 日本透析医学会雑誌 = Journal of Japanese Society for Dialysis Therapy 44(8), 689-694, 2011-08-28
- … May-Hegglin anomaly（MHA）は血小板減少，巨大血小板，顆粒球封入体を三徴とする，まれな常染色体優性遺伝性疾患であり，原因として非筋肉性A型ミオシン重鎖（myosin IIA）をコードする遺伝子である，MYH9の異常が指摘されている．さらにMYH9の異常がAlport症状（感音性難聴，白内障，腎炎）の発現に重要な役割を担っているものと考えられている．症例は45歳，女性．2007年6月より全身 …
- NAID 10029583083
Related Links
- May-Hegglin anomaly (MHA), also known as Dohle leukocyte inclusions with giant platelets and macrothrombocytopenia with leukocyte inclusions, is a rare genetic disorder of the blood platelets that causes them to be abnormally large.
- 29 Mar 2012 ... May-Hegglin Anomaly. In 1909, May described the presence of leukocyte inclusions and large platelets in an asymptomatic young woman.
Related Pictures
★リンクテーブル★
[★]
- 英
- May-Hegglin anomaly
- 同
- May-Hegglin異常、May-Hegglin奇形
- 関
- 血小板減少、デーレ小体
- 血液塗沫：好中球減少、核分葉低下、粗大顆粒、デーレ小体、血小板減少症、巨大血小板
- 血小板の骨髄巨核球からの産生障害 → 血小板減少症
[★]
- (許可)～してもよろしい
- (容認)～と言っても差し支えない、～というのはもっともだ
- (推量)
-
- prodromal pain may be constant or intermittent and can precede the rash by days to weeks.
- 関
- might, shall, will
[★]
- 関
- aberrant、aberrantly、aberration、abnormal、abnormality、abnormally、anomalous、anomalously、defect、deviant、exceeding、exception、exceptional、extraordinarily、extraordinary、unusual、unusually
[★]
メチオニン methionine