WordNet

write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
(biology) the taxonomic group whose characteristics are used to define the next higher taxon
a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
all of the tokens of the same symbol; "the word `element contains five different types of character"
printed characters; "small type is hard to read"
identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
the 18th letter of the Roman alphabet (同)r
writing done with a typewriter (同)typewriting

PrepTutorEJDIC

〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
resistance / 17歳以下父兄同伴映画の表示 / rook
radio telephone無線電話

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/11/19 11:33:21」(JST)

wiki en

Radiograph of a rickets sufferer, a complication of both distal and proximal RTA.

Distal renal tubular acidosis (dRTA) or Type 1 Renal tubular acidosis (RTA) is the classical form of RTA, being the first described. Distal RTA is characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. This failure of acid secretion may be due to a number of causes, and it leads to an inability to acidify the urine to a pH of less than 5.3.

Symptoms

Because renal excretion is the primary means of eliminating acid from the body, there is consequently a tendency towards acidemia. This leads to the clinical features of dRTA;.^[1]

Normal anion gap metabolic acidosis/acidemia
Hypokalemia
Urinary stone formation (related to alkaline urine, hypercalciuria, and low urinary citrate).^[2]
Nephrocalcinosis (deposition of calcium in the substance of the kidney)
Bone demineralisation (causing rickets in children and osteomalacia in adults)

The symptoms and sequelae of dRTA are variable and range from being completely asymptomatic, to loin pain and hematuria from kidney stones, to failure to thrive and severe rickets in childhood forms as well as possible renal failure and even death.

dRTA commonly leads to sodium loss and volume contraction, which causes a compensatory increase in blood levels of aldosterone.^[3] Aldosterone causes increased resorption of sodium and loss of potassium in the collecting duct of the kidney, so these increased aldosterone levels cause the hypokalemia which is a common symptom of dRTA.^[3]

Diagnosis

The acidosis is variable, and one may have dRTA with alpha intercalated cell failure without necessarily being acidemic; this is termed incomplete dRTA. The diagnosis of dRTA can be made by the observation of a urinary pH of greater than 5.3 in the face of a systemic acidemia (usually taken to be a serum bicarbonate of 20 mmol/l or less). In the case of an incomplete dRTA, failure to acidify the urine following an oral acid loading challenge is often used as a test. The test usually performed is the short ammonium chloride test,^[4] in which ammonium chloride capsules are used as the acid load. More recently, an alternative test using furosemide and fludrocortisone has been described.^[5]

Interestingly, dRTA has been proposed as a possible diagnosis for the unknown malady plaguing Tiny Tim in Charles Dickens' A Christmas Carol.^[6]^[7]

Causes

Diagram depicting an alpha intercalated cell with the apical proton pump and basolateral band 3 (kAE1)

Autoimmune disease. Classically Sjögren's syndrome, but it is also associated with systemic lupus erythematosus, rheumatoid arthritis and even hypergammaglobulinemia. Hypokalaemia is often severe in these cases.^[8]
Hereditary causes include mutations of Band 3^[9] the basolateral bicarbonate transporter of the intercalated cell, which may be transmitted in an autosomal dominant fashion in western European cases, or in an autosomal recessive fashion in South East Asian cases. The South East Asian cases are associated with more severe hypokalemia.^[10] Other hereditary causes include mutations of subunits of the apical proton pump vH⁺-ATPase,^[11] which are transmitted in an autosomal recessive fashion, and may be associated with sensorineural deafness.^[12]
Liver cirrhosis.
Nephrocalcinosis. While it is a consequence of dRTA, it can also be a cause; related to calcium-induced damage of the cortical collecting duct.
Renal transplantation.
Sickle cell anemia.
Toxins, including ifosfamide (more commonly causing pRTA than dRTA),^[13] toluene,^[14] lithium carbonate^[15] and amphotericin B.^[16]
Chronic urinary tract obstruction.

Treatment

This is relatively straightforward. It involves correction of the acidemia with oral sodium bicarbonate, sodium citrate or potassium citrate. This will correct the acidemia and reverse bone demineralisation. Hypokalemia and urinary stone formation and nephrocalcinosis can be treated with potassium citrate tablets which not only replace potassium but also inhibit calcium excretion and thus do not exacerbate stone disease as sodium bicarbonate or citrate may do.^[17]

References

^ Laing CM, Toye AM, Capasso G, Unwin RJ (2005). "Renal tubular acidosis: developments in our understanding of the molecular basis". Int. J. Biochem. Cell Biol. 37 (6): 1151–61. doi:10.1016/j.biocel.2005.01.002. PMID 15778079.
^ Buckalew VM Jr (1989). "Nephrolithiasis in renal tubular acidosis". The Journal of Urology 141 (3 (part 2)): 731–737. PMID 2645431.
^ ^a ^b Wein, Alan, J (2011). Campbell-walsh Urology Expert Consult. (PDF) (10th ed.). Philadelphia, PA: W B Saunders Co. p. 1045. ISBN 978-1-4160-6911-9.
^ Wrong, O; Davies HEF (1959). "The Excretion of Acid in Renal Disease". QJM 28 (110): 259–313. PMID 13658353.
^ Walsh SB, Shirley DG, Wrong OM, Unwin RJ (2007). "Urinary acidification assessed by simultaneous furosemide and fludrocortisone treatment: an alternative to ammonium chloride". Kidney Int. 71 (12): 1310–6. doi:10.1038/sj.ki.5002220. PMID 17410104.
^ Lewis D (1992). "What was wrong with Tiny Tim?". Am J Dis Child 146 (12): 1403–7. doi:10.1001/archpedi.1992.02160240013002. PMID 1340779.
^ "What Ailed Tiny Tim". Time. 1992-12-28. Retrieved 2010-05-22.
^ Wrong OM, Feest TG, MacIver AG (1993). "Immune-related potassium-losing interstitial nephritis: a comparison with distal renal tubular acidosis". Q. J. Med. 86 (8): 513–34. doi:10.1093/qjmed/86.8.513. PMID 8210309.
^ Bruce LJ, Cope DL, Jones GK, et al. (1997). "Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene". J. Clin. Invest. 100 (7): 1693–707. doi:10.1172/JCI119694. PMC 508352. PMID 9312167.
^ Bruce LJ, Wrong O, Toye AM, et al. (2000). "Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells". Biochem. J. 350 Pt 1 (Pt 1): 41–51. doi:10.1042/0264-6021:3500041. PMC 1221222. PMID 10926824.
^ Wagner, CA; Finberg, KE; Breton, S; Marshansky, V; Brown, D; Geibel, JP (October 2004). "Renal Vacuolar H⁺-ATPase". Physiological Reviews 84 (4): 1263–314. doi:10.1152/physrev.00045.2003. PMID 15383652.
^ Karet FE, Finberg KE, Nelson RD, et al. (1999). "Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness". Nat. Genet. 21 (1): 84–90. doi:10.1038/5022. PMID 9916796.
^ Skinner R, Pearson AD, English MW, et al. (1996). "Risk factors for ifosfamide nephrotoxicity in children". Lancet 348 (9027): 578–80. doi:10.1016/S0140-6736(96)03480-0. PMID 8774570.
^ Batlle DC, Sabatini S, Kurtzman NA (1988). "On the mechanism of toluene-induced renal tubular acidosis". Nephron 49 (3): 210–8. doi:10.1159/000185057. PMID 3135502.
^ Boton R, Gaviria M, Batlle DC (1987). "Prevalence, pathogenesis, and treatment of renal dysfunction associated with chronic lithium therapy". Am. J. Kidney Dis. 10 (5): 329–45. doi:10.1016/s0272-6386(87)80098-7. PMID 3314489.
^ McCurdy DK, Frederic M, Elkinton JR (1968). "Renal tubular acidosis due to amphotericin B". N. Engl. J. Med. 278 (3): 124–30. doi:10.1056/NEJM196801182780302. PMID 5634966.
^ Morris RC, Sebastian A (2002). "Alkali therapy in renal tubular acidosis: who needs it?" (PDF). J. Am. Soc. Nephrol. 13 (8): 2186–8. doi:10.1097/01.ASN.0000027973.07189.00. PMID 12138154.

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.

1. 遠位（I型）および近位（II型）尿細管性アシドーシスの病因および診断 etiology and diagnosis of distal type 1 and proximal type 2 renal tubular acidosis
2. 腎尿細管性アシドーシスの概要と病態生理、およびカリウムバランスへの影響 overview and pathophysiology of renal tubular acidosis and the effect on potassium balance
3. 遠位（I型）および近位（II型）尿細管性アシドーシスの治療 treatment of distal type 1 and proximal type 2 renal tubular acidosis
4. 幼児および小児における尿細管性アシドーシスの病因および臨床症状 etiology and clinical manifestations of renal tubular acidosis in infants and children
5. 尿細管性アシドーシスにおける腎結石症 nephrolithiasis in renal tubular acidosis

English Journal

Clinical and laboratory approaches in the diagnosis of renal tubular acidosis.

Santos F1,2, Ordóñez FA3, Claramunt-Taberner D3, Gil-Peña H3.
Pediatric nephrology (Berlin, Germany).Pediatr Nephrol.2015 Dec;30(12):2099-107. doi: 10.1007/s00467-015-3083-9. Epub 2015 Apr 1.
In the absence of a gastrointestinal origin, a maintained hyperchloremic metabolic acidosis must raise the diagnostic suspicion of renal tubular acidosis (RTA). Unlike adults, in whom RTA is usually secondary to acquired causes, children most often have primary forms of RTA resulting from an inherit
PMID 25823989

Microenvironmental abnormalities induced by viral cooperation: Impact on lymphomagenesis.

De Paoli P1, Carbone A2.
Seminars in cancer biology.Semin Cancer Biol.2015 Oct;34:70-80. doi: 10.1016/j.semcancer.2015.03.009. Epub 2015 Mar 30.
When stringent criteria have been used, the Epstein Barr virus (EBV), the Kaposi's sarcoma herpesvirus (KSHV), human immunodeficiency virus type 1 (HIV-1) and human hepatitis C virus (HCV) have been identified with sufficient evidence to be causative agents of non-Hodgkin's Lymphomas. Initially, sin
PMID 25837157

The value of Retrospective and Concurrent Think Aloud in formative usability testing of a physician data query tool.

Peute LW1, de Keizer NF2, Jaspers MW3.
Journal of biomedical informatics.J Biomed Inform.2015 Jun;55:1-10. doi: 10.1016/j.jbi.2015.02.006. Epub 2015 Feb 27.
OBJECTIVE: To compare the performance of the Concurrent (CTA) and Retrospective (RTA) Think Aloud method and to assess their value in a formative usability evaluation of an Intensive Care Registry-physician data query tool designed to support ICU quality improvement processes.METHODS: Sixteen repres
PMID 25733166

Japanese Journal

Possible Involvement of Multidrug-Resistant Hepatitis B Virus sW172* Truncation Variant in the ER Stress Signaling Pathway during Hepatocarcinogenesis

Japanese Journal of Infectious Diseases 69(4), 306-313, 2016
NAID 130005165474

An Application of Laser Annealing Process in Low-Voltage Power MOSFETs

IEICE Transactions on Electronics E99.C(5), 516-521, 2016
NAID 130005148969

Thick (~1 mm) p-type In x Ga 1–x N(x ~ 0.36) grown by MOVPE at a low temperature (~570 8C)

Physica Status Solidi B, 1-4, 2015-02-17
NAID 120005541052

「遠位尿細管性アシドーシス」

Distal renal tubular acidosis
Classification and external resources
OMIM	179800
MedlinePlus	000493
MeSH	D000141

　　[★]

英: distal renal tubular acidosis, distal RTA, dRTA
同: 1型尿細管性アシドーシス、I型尿細管性アシドーシス、尿細管性アシドーシス1型、尿細管性アシドーシスI型; 1型腎尿細管性アシドーシス、I型腎尿細管性アシドーシス、腎尿細管性アシドーシス1型、腎尿細管性アシドーシスI型; type 1 renal tubular acidosis, type I renal tubular acidosis, renal tubular acidosis type 1, renal tubular acidosis type I; type 1 RTA, type I RTA, RTA type 1, RTA type I
関: 腎尿細管性アシドーシス。近位尿細管性アシドーシス。代謝性アシドーシス

[show details]

ja

尿細管性アシドーシスI型 : 30 件
尿細管性アシドーシス1型 : 63 件
I型尿細管性アシドーシス : 42 件
1型尿細管性アシドーシス : 27 件

1型腎尿細管性アシドーシス : 1 件
I型腎尿細管性アシドーシス : 7 件
腎尿細管性アシドーシス1型 : 10 件
腎尿細管性アシドーシスI型 : 5 件
type 1 renal tubular acidosis : 11 件
type I renal tubular acidosis : 15 件
renal tubular acidosis type 1 : 7 件
renal tubular acidosis type I : 28 件

en

type 1 renal tubular acidosis : 約 34,400 件
type I renal tubular acidosis : 約 12,200 件
renal tubular acidosis type 1 : 約 25,100 件
renal tubular acidosis type I : 約 41,700 件
type 1 RTA : 約 59,800 件
type I RTA : 約 4,600 件
RTA type 1 : 約 27,000 件
RTA type I : 約 30,300 件

概念

遠位尿細管における水素イオン分泌が障害されることにより生じる、アニオンギャップが正常な高Cl性の代謝性アシドーシス。
シェーグレン症候群によく合併する。

病因

uptodate Major causes of type I (distal) renal tubular acidosis

一次性 Primary

特発性、孤発性

家族性

AD
AR

二次性

シェーグレン症候群 Sjogren's syndrome ：腎生検上α間在細胞にH+-ATPaseが欠損している。患者の中にはcarbonic anhydrase IIに対する自己抗体をもつものもいる。(参考4)
高カルシウム血症
関節リウマチ
高グロブリン血症
イホスファミド
アムホテリシンB
肝硬変
全身性エリテマトーデス(おそらく高カリウム性)
鎌状赤血球症(おそらく高カリウム性)
閉塞性尿路疾患(おそらく高カリウム性)
炭酸リチウム
腎移植

家族性のRTA

HIM.1805

変異が存在する分子によって以下の型がある。

1. H+-ATPase proton pumpの変異：常染色体劣性遺伝(のほとんど)。H+-ATPase proton pumpは皮質集合管にあるα介在細胞(H+分泌に関与)の管腔側に存在する。このpunpの変異により、酸分泌能が障害されている。また、早期発症の感音性難聴と関連がある。
2. 重炭酸イオンと塩素イオンの対向輸送蛋白AE1の変異：常染色体優性遺伝：AE1の機能は正常であるが、本来の基底膜にでなく管腔側に存在するために重炭酸イオンを失うと考えられている。AE1の両方の対立遺伝子に変異を生じた病型は常染色体劣性遺伝型(1.)のような病態を呈する。
3. carbonic anhydrase IIの変異：dRTAを伴った"marble-brain disease"(骨粗鬆症、低身長、精神遅滞)。

病態生理

参考4 参考5

1. 代謝性アシドーシス

水素イオンを分泌できないため、体内の重炭酸イオンが消費され、高Cl性代謝性アシドーシスを生じる

2. 低カリウム血症

集合管など(distal nephron)でナトリウムを再吸収するとき電気的中性を保つために水素イオンが管腔側に移動していたが、水素イオンが分泌できなくなったために代償的にカリウムが分泌・排泄されるため。(参考4)
遠位尿細管におけるH+分泌とHCO3-再吸収が障害され、管腔内にHCO3-が増加すると電気的中性を保つく尿細管上皮内からNa,Kが出てくる。すると、Na再吸収低下による続発性アルドステロン症も相まってK再吸収は低下し、低K血症となる(←非常にあやしい。出典不明)

3. 高カルシウム尿症

1) 代謝性アシドーシスでは、遠位尿細管でのカルシウム再吸収が低下する。(代謝性アシドーシス#検査)
2) アシドーシスに対して骨からカルシウムとリン酸が動員され、リン酸によりpHの低下が緩衝され、カルシウムは1)により排泄される。　←　代謝性アシドーシスでPTHの分泌が促される。これもpHを保とうとするホメオスタシスの一つなんですかね？

4. 低クエン酸尿症

遠位尿細管性アシドーシスでは近位尿細管でのクエン酸再吸収が亢進し、低クエン酸尿症をきたす。

5. 尿pH上昇

水素イオンを分泌できないため

6. 尿路結石

3+4+5 → 腎石灰化症、リン酸カルシウム結石の形成(HIM.1805)

7. 尿の濃縮障害 (HIM.1805)　機序不明

臨床像

HIM.1805

原発性dRTAでは、全身性代謝性アシドーシスや酸負荷によっても尿をpH5.5以下に酸性化できない。これは、遠位尿細管における酸分泌や重炭酸の再吸収の障害による。
低カリウム血症、低クエン酸尿症、高カルシウム尿症、腎石灰化症、腎結石が特徴的
未治療のまま放置すると、くる病や骨軟化症をきたす。
遺伝性：常染色体優性～常染色体劣性
AR dRTA：幼児期発症。重度のアシドーシス、発育不良、成長不良、腎石灰化症による腎機能障害を呈する。
AD dRTA：無症状で思春期や成人の時なってから腎結石の精査の折に偶然発見される。全身性のアシドーシスはない。尿検査で低クエン酸尿症、高カルシウム尿症、あるいは塩化アンモニウムや塩化カルシウム負荷による尿の酸性化障害で診断される。

徴候

低カリウム血症：低カリウム性四肢麻痺
尿の濃縮障害：

検査

電解質

K ：低値
Cl：上昇

NH4Cl負荷試験：NH4Clを負荷をおこなっても尿の酸性化に限界があり、pH5.5以上を呈する。

合併症

尿路結石

治療

アシドーシスの補正：少量の炭酸水素ナトリウム(重曹)でよい。　⇔　近位尿細管性アシドーシス RTA type 2で大量の炭酸水素ナトリウムが必要

参考

1. 腎・泌尿器 081113IV
2. RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT - OMIM

http://www.ncbi.nlm.nih.gov/omim/179800

17q21-q22

mutation in the SLC4A1 gene

3. RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS - OMIM

http://www.ncbi.nlm.nih.gov/omim/267300

2cen-q13

mutation in the ATP6V1B1 (ATP6B1)

4. [charged] Pathophysiology of renal tubular acidosis and the effect on potassium balance - uptodate [1]
5. [charged] Treatment of distal (type 1) and proximal (type 2) renal tubular acidosis - uptodate [2]