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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/01/25 23:13:55」(JST)

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Hereditary stomatocytosis describes a number of inherited autosomal dominant human conditions which affect the red blood cell, in which the membrane or outer coating of the cell 'leaks' sodium and potassium ions.

Pathophysiology

Osmosis leads to the red blood cell having a constant tendency to swell and burst. This tendency is countered by manipulating the flow of sodium and potassium ions. A 'pump' forces sodium out of the cell and potassium in, and this action is balanced by a process called 'the passive leak'. In the hereditary stomatocytoses, the passive leak is increased and the cell becomes swamped with salt and water. The cell lyses and a haemolytic anaemia results. For as yet unknown reasons, the cells take on an abnormal shape, resembling a mouth or 'stoma'.

Variants

Haematologists have identified a number of variants. These can be classified as below.

Overhydrated hereditary stomatocytosis
Dehydrated HSt (hereditary xerocytosis; hereditary hyperphosphatidylcholine haemolytic anaemia)
Dehydrated with perinatal ascites
Cryohydrocytosis
'Blackburn' variant.
Familial pseudohyperkalaemia

There are other families that do not fall neatly into any of these classifications.^[1]

Stomatocytosis is also found as a hereditary disease in Alaskan malamute and miniature schnauzer dogs.^[2]

Treatment

At present there is no specific treatment. Many patients with haemolytic anaemia take folic acid (vitamin B₉) since the greater turnover of cells consumes this vitamin. During crises transfusion may be required. Clotting problems can occur for which anticoagulation may be needed.

Causes

The cause for these hereditary conditions is now understood to be various mutations in the erythrocyte membrane protein, band 3. It is this protein which mediates the cation leaks which are characteristic of this disease.^[3]

References

^ Oski FA, Naiman JL, Blum SF, et al. (1969). "Congenital hemolytic anemia with high-sodium, low-potassium red cells. Studies of three generations of a family with a new variant". N. Engl. J. Med. 280 (17): 909–16. doi:10.1056/NEJM196904242801701. PMID 4237839.
^ Thrall, MA (2006). Veterinary Hematology and Clinical Chemistry, Blackwell Publishing. pp. 71–72.
^ Bruce LJ, Robinson HC, Guizouarn H, et al. (2005). "Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1". Nat. Genet. 37 (11): 1258–63. doi:10.1038/ng1656. PMID 16227998.

UpToDate Contents

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1. 有口赤血球症 stomatocytosis
2. 末梢血塗抹標本の評価 evaluation of the peripheral blood smear
3. 小児における溶血性貧血の概要 overview of hemolytic anemias in children
4. 全身疾患による外因性の非免疫性溶血性貧血 extrinsic nonimmune hemolytic anemia due to systemic disease
5. 膜透過性異常 xerocytosis

English Journal

Cation-leak stomatocytosis in Standard Schnauzers does not cosegregate with coding mutations in the RhAG, SLC4A1, or GLUT1 genes associated with human disease.

Shmukler BE, Rivera A, Vandorpe DH, Alves J, Bonfanti U, Paltrinieri S, Alper SL.SourceDept. of Medicine, Beth Israel Deaconess Med. Ctr, United States; Dept. of Medicine, Harvard Medical School, Boston, MA, United States.
Blood cells, molecules & diseases.Blood Cells Mol Dis.2012 Apr 15;48(4):219-25. Epub 2012 Mar 9.
Autosomal dominant overhydrated cation-leak stomatocytosis in humans has been associated with missense mutations in the erythroid membrane transport genes AE1, RhAG, and GLUT1. Syndromic stomatocytosis has been reported in three dog breeds, but stomatocytosis in Standard Schnauzers is usually asympt
PMID 22406315

Macrothrombocytopenia/Stomatocytosis Specially Associated With Phytosterolemia.

Wang G, Cao L, Wang Z, Jiang M, Sun X, Bai X, Ruan C.SourceJiangsu Institute of Hematology,The First Affiliated Hospital of Soochow University,Key Laboratory of Thrombosis & Hemostasis of Ministry of Health,Suzhou,China.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis.Clin Appl Thromb Hemost.2012 Jan 31. [Epub ahead of print]
Phytosterolemia is a rare autosomal recessive disease of plant sterol metabolism, the pathophysiological features of which are high plasma levels of plant sterols and xanthomatosis caused by mutations of ABCG5 and ABCG8 genes, and the combination of hemolysis and macrothrombocytopenia is an unusual
PMID 22297561

Japanese Journal

日本における赤血球膜異常症 : 諸外国との比較 (特集溶血性貧血診療の最前線)

中西秀和,和田秀穂,末盛晋一郎 [他]
臨床血液 56(7), 760-770, 2015-07
NAID 40020548370

日本における赤血球膜異常症:―諸外国との比較―

中西秀和,和田秀穂,末盛晋一郎,杉原尚
臨床血液 56(7), 760-770, 2015
先天性赤血球膜異常症は先天性溶血疾患の中で最も頻度の高い疾患群である。遺伝性球状赤血球症(HS)は膜表面の喪失によって赤血球変形能の低下を招くことが病態の本質であり，病因としてアンキリン，band 3, β-スペクトリン，α-スペクトリン，4.2蛋白質(P4.2)といった膜蛋白の異常が知られている。P4.2完全欠損症は海外では稀な日本特有の病型でHSの亜型として分類されており，常染色体性劣性の遺伝 …
NAID 130005093112

アニオン交換輸送体1(AE1)の構造異常と疾患

稲葉睦
膜 35(6), 262-267, 2010-11-01
NAID 10027741843

Related Pictures

★リンクテーブル★

リンク元	「溶血性貧血」「有口赤血球症」

「溶血性貧血」

Hereditary stomatocytosis
	Classification and external resources
	; Stomatocytes
ICD-10	D58.8
ICD-9	282.8
OMIM	185000 185010
DiseasesDB	29710

　　[★]

英: hemolytic anemia
同: 溶血性黄疸 hemolytic jaundice
関: 貧血

溶血の種類	機序	脾腫	ヘモグロビン尿ヘモジデリン尿	疾患
血管外溶血	Mφで貪食される	＋	－	球状赤血球症 HS 自己免疫性溶血性貧血 AIHA (温式) ↑冷式より多い
血管内溶血	血管内で溶血	－	＋	自己免疫性溶血性貧血 AIHA (冷式) 発作性夜間ヘモグロビン尿症 PNH G6PD欠損症赤血球破砕症候群不適合輸血

概念

赤血球寿命が種々の原因により短縮することに伴う貧血の総称。

病因

赤血球が何らかの原因により破壊され、骨髄の代償能力を超えて赤血球が減少することにより貧血を呈する。　→　溶血が存在するが貧血ではない状態がある。
溶血の原因

先天性疾患

遺伝性球状赤血球症(70%)
遺伝性楕円赤血球症
ヘモグロビン異常症、酵素欠乏症

後天性疾患

自己抗体による溶血

自己免疫性溶血性貧血(温式抗体、冷式抗体)、発作性夜間ヘモグロビン尿症、赤血球破砕症候群

HIM.653

赤血球内の素因

1. ヘモグロビンの異常
2. 膜-細胞骨格複合体の異常

遺伝性球状赤血球症(溶血性貧血のなかで一般的なもの。赤血球の細胞膜蛋白・細胞骨格の異常により球状となり脾臓で捕捉され溶血する)、hereditary elliptocytosis HE
stomatocytosis

3. 代謝経路

解糖系の異常：pyruvate kinase deficiency
還元系の異常：glucose 6-phosphate dehydrogenase deficiency
核酸異化異常：pyrimidine 5'-nucleotidase deficiency

赤血球外の素因

先天性

家族性溶血尿毒症 familial hemolytic uremic syndrome

後天性

赤血球の機械的損傷
毒物・薬物
感染
自己免疫性溶血性貧血 AIHA

発作性夜間血色素尿症 PNH

症状

貧血、無胆汁色素尿性または溶血性黄疸、脾腫

参考

[charged]Extrinsic nonimmune hemolytic anemia due to mechanical damage: Fragmentation hemolysis and hypersplenism - uptodate

http://www.uptodate.com/contents/extrinsic-nonimmune-hemolytic-anemia-due-to-mechanical-damage-fragmentation-hemolysis-and-hypersplenism?source=search_result&selectedTitle=2%7E150

「有口赤血球症」

　　[★]

英: stomatocytosis
同: 口唇状赤血球症

[show details]

口唇状赤血球症 : 79 件
有口赤血球症 : 約 94 件

[1] Oski FA, Naiman JL, Blum SF, et al. (1969). "Congenital hemolytic anemia with high-sodium, low-potassium red cells. Studies of three generations of a family with a new variant". N. Engl. J. Med. 280 (17): 909–16. doi:10.1056/NEJM196904242801701. PMID 4237839.

[2] Thrall, MA (2006). Veterinary Hematology and Clinical Chemistry, Blackwell Publishing. pp. 71–72.

[pmid16227998-3] Bruce LJ, Robinson HC, Guizouarn H, et al. (2005). "Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1". Nat. Genet. 37 (11): 1258–63. doi:10.1038/ng1656. PMID 16227998.

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案内

案内

stomatocytosis