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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/12/13 15:00:49」(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 the shape of a cup, with a 'mouth-shaped' (stoma) area of central pallor. The two varieties of stomatocytosis classified with respect to hydration status are overhydrated (hydrocytosis) and dehydrated (xerocytosis).

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": 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. 口唇状赤血球症および膜透過性異常 stomatocytosis and xerocytosis
2. 遺伝性球状赤血球症：臨床的特徴、診断および治療 hereditary spherocytosis clinical features diagnosis and treatment
3. 成人における高カリウム血症の原因および評価 causes and evaluation of hyperkalemia in adults
4. 小児における溶血性貧血の概要 overview of hemolytic anemias in children
5. 赤血球細胞の力学 red blood cell mechanics

English Journal

Dehydrated hereditary stomatocytosis.

Layton DM1,2, Bain BJ1,2.
American journal of hematology.Am J Hematol.2016 Feb;91(2):266. doi: 10.1002/ajh.24212. Epub 2015 Nov 17.
PMID 26440377

Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).

Andolfo I1,2, Russo R1,2, Manna F1,2, Shmukler BE3,4, Gambale A1,2, Vitiello G2,5, De Rosa G1,2, Brugnara C6, Alper SL3, Snyder LM7,8, Iolascon A1,2.
American journal of hematology.Am J Hematol.2015 Oct;90(10):921-6. doi: 10.1002/ajh.24117.
Dehydrated hereditary stomatocytosis (DHSt) is an autosomal dominant congenital hemolytic anemia with moderate splenomegaly and often compensated hemolysis. Affected red cells are characterized by a nonspecific cation leak of the red cell membrane, reflected in elevated sodium content, decreased pot
PMID 26178367

Japanese Journal

膜タンパク質ストマチンの三次元構造とその特異的切断プロテアーゼの機能

横山英志
YAKUGAKU ZASSHI 130(10), 1289-1293, 2010
… Stomatin is a major integral membrane protein of human erythrocytes, the absence of which is associated with a form of hemolytic anemia known as hereditary stomatocytosis. …
NAID 130000451671

赤血球の膜および酵素異常による溶血性貧血の新知見 (特集溶血性貧血の新展開)

菅野仁
血液・腫瘍科 59(3), 294-299, 2009-09
NAID 40019064272

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リンク元	「遺伝性有口赤血球症」
関連記事	「hereditary」

「遺伝性有口赤血球症」

Hereditary stomatocytosis
	Stomatocytes
Classification and external resources
Specialty	hematology
ICD-10	D58.8
ICD-9-CM	282.8
OMIM	185000 185010
DiseasesDB	29710
	[edit on Wikidata]