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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/03/03 23:18:00」(JST)
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| Hyperoxaluria |
| Classification and external resources |
Oxalate
|
| ICD-10 |
E74.8 |
| ICD-9 |
271.8 |
| DiseasesDB |
31642 |
| eMedicine |
med/3027 |
| MeSH |
D006959 |
Hyperoxaluria is an excessive urinary excretion of oxalate. Individuals with hyperoxaluria often have calcium oxalate kidney stones. It is sometimes called Bird's disease, after Golding Bird, who first described the condition.
Contents
- 1 Causes
- 2 Treatment
- 3 Controversy
- 4 Types
- 5 References
- 6 External links
Causes[edit]
Type I (PH1) is associated with AGXT protein, a key enzyme involved in breakdown of oxalate. PH1 is also an example of a protein mistargeting disease, wherein AGXT shows a trafficking defect: instead of being trafficked to peroxisomes, it is targeted to mitochondria, where it is metabolically deficient despite being catalytically active. Type II is associated with GRHPR.[1] It is also a complication of jejunoileal bypass, or in any patient who has lost much of the ileum with an intact colon. This is due to excessive absorption of oxalate from the colon.[2]
Treatment[edit]
The main therapeutic approach to primary hyperoxaluria is still restricted to symptomatic treatment, i.e. kidney transplantation once the disease has already reached mature or terminal stages. However, through genomics and proteomics approaches, efforts are currently being made to elucidate the kinetics of AGXT folding which has a direct bearing on its targeting to appropriate subcellular localization. Secondary hyperoxaluria is much more common than primary hyperoxaluria, and should be treated by limiting dietary oxalate and providing calcium supplementation. A child with primary hyperoxaluria was treated with a liver and kidney transplant.[3] A favorable outcome is more likely if a kidney transplant is complemented by a liver transplant, given the disease originates in the liver.
Controversy[edit]
Perhaps the key difficulty in understanding pathogenesis of primary hyperoxaluria, or more specifically, why AGXT ends up in mitochondria instead of peroxisomes, stems from AGXT's somewhat peculiar evolution. Namely, prior to its current peroxysomal 'destiny', AGXT indeed used to be bound to mitochondria. AGXT's peroxisomal targeting sequence is uniquely specific for mammalian species, suggesting the presence of additional peroxisomal targeting information elsewhere in the AGT molecule. As AGXT was redirected to peroxisomes over the course of evolution, it is plausible that its current aberrant localization to mitochondria owes to some hidden molecular signature in AGXT's spatial configuration unmasked by PH1 mutations affecting the AGXT gene.
Types[edit]
- Primary hyperoxaluria
- Enteric hyperoxaluria
- Idiopathic hyperoxaluria
- Oxalate poisoning
References[edit]
- ^ "Primary hyperoxaluria - Genetics Home Reference".
- ^ Surgery PreTest Self-Assessment and Review, Twelfth Edition
- ^ India News & Business - MSN India: News, Business, Finance, Sports, Politics & more. - News
External links[edit]
- GeneReviews/NIH/NCBI/UW entry on Primary Hyperoxaluria Type 1
|
Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73–E74, 271)
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Sucrose, transport
(extracellular) |
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Disaccharide catabolism
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- Lactose intolerance
- Sucrose intolerance
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Monosaccharide transport
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- Glucose-galactose malabsorption
- Inborn errors of renal tubular transport (Renal glycosuria)
- Fructose malabsorption
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| Hexose → glucose |
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Monosaccharide catabolism
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fructose:
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- Essential fructosuria
- Fructose intolerance
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galactose/galactosemia:
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- GALK deficiency
- GALT deficiency/GALE deficiency
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| Glucose ⇄ glycogen |
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Glycogenesis
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- GSD type 0, glycogen synthase
- GSD type IV, Andersen's, branching
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Glycogenolysis
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extralysosomal:
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- GSD type V, McArdle, muscle glycogen phosphorylase/GSD type VI, Hers', liver glycogen phosphorylase
- GSD type III, Cori's, debranching
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- lysosomal/LSD: GSD type II, Pompe's, glucosidase
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| Glucose ⇄ CAC |
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Glycolysis
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- MODY 2/HHF3
- GSD type VII, Tarui's, phosphofructokinase
- Triosephosphate isomerase deficiency
- Pyruvate kinase deficiency
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Gluconeogenesis
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- PCD
- Fructose bisphosphatase deficiency
- GSD type I, von Gierke, glucose 6-phosphatase
|
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| Pentose phosphate pathway |
- Glucose-6-phosphate dehydrogenase deficiency
- Transaldolase deficiency
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| Other |
- Hyperoxaluria
- Pentosuria
- Aldolase A deficiency
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mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m
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k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon
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m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
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Abnormal clinical and laboratory findings for urine / Urine test / urination disorder (R80–R82, 791)
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| Red blood cells |
- Hematuria (Microscopic hematuria)
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| White blood cells |
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| Proteinuria |
- Albuminuria/Microalbuminuria
- Myoglobinuria
- Hemoglobinuria
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| Small molecules |
- Glycosuria
- Ketonuria
- Bilirubinuria
- Hyperuricosuria/Hypouricosuria
- Aminoaciduria
|
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| Pathogens |
|
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| Other |
- Chyluria
- Crystalluria
- osmolality (Isosthenuria, Hypersthenuria)
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noco/acba/cong/tumr, sysi/epon, urte
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proc/itvp, drug (G4B), blte, urte
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UpToDate Contents
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English Journal
- Expression of heterologous oxalate decarboxylase in HEK293 cells confers protection against oxalate induced oxidative stress as a therapeutic approach for calcium oxalate stone disease.
- Albert A1, Tiwari V1, Paul E1, Ganesan D1, Ayyavu M2, Kujur R1, Ponnusamy S3, Shanmugam K4, Saso L5, Govindan Sadasivam S1.
- Journal of enzyme inhibition and medicinal chemistry.J Enzyme Inhib Med Chem.2017 Dec;32(1):426-433. doi: 10.1080/14756366.2016.1256884.
- PMID 28118755
- Urinary oxalate to creatinine ratios in healthy Turkish schoolchildren.
- Dursun I1, Çelik İ2, Poyrazoglu HM1, Köse K3, Tanrıkulu E3, Sahin H4, Yılmaz K1, Öztürk A5, Yel S1, Gündüz Z1, Düşünsel R1.
- Renal failure.Ren Fail.2017 Nov;39(1):146-152. doi: 10.1080/0886022X.2016.1256308. Epub 2016 Nov 15.
- PMID 27846788
- N-acetylcysteine protects against star fruit-induced acute kidney injury.
- Shimizu MH1, Gois PH1, Volpini RA1, Canale D1, Luchi WM1, Froeder L2, Heilberg IP2, Seguro AC1.
- Renal failure.Ren Fail.2017 Nov;39(1):193-202. doi: 10.1080/0886022X.2016.1256315. Epub 2016 Nov 15.
- PMID 27845599
Japanese Journal
- A Novel Mutation of Human Liver Alanine:Glyoxylate Aminotransferase Causes Primary Hyperoxaluria Type 1: Immunohistochemical Quantification and Subcellular Distribution
- Kawai Chikage,Minatogawa Yohsuke,Akiyoshi Hidetaka,Hirose Shinichi,Suehiro Tsunatoshi,Tone Shigenobu
- ACTA HISTOCHEMICA ET CYTOCHEMICA 45(2), 121-129, 2012
- … A novel alanine:glyoxylate aminotransferase (AGT) mutation involved in primary hyperoxaluria type 1 (PH1) was studied in Japanese patients. …
- NAID 130001854237
- オステオポンチンの多機能性と臨床応用への戦略 (第59回日本泌尿器科学会中部総会(金沢) シンポジウム 尿路結石の概念を変える,治療・予防法を変える)
- 辻 秀憲,梅川 徹,植村 天受
- 泌尿器科紀要 57(1), 49-54, 2011-01
- … Hyperoxaluria leads to CaOx crystallization and the development of tubulointerstitial lesions in the kidney. … OPN synthesis and production increased with hyperoxaluria but to a lesser extent in ARB-treated hyperoxaluric rats. …
- NAID 120002770957
- 全顎的に著しい歯の動揺を伴う原発性高シュウ酸尿症と考えられた1例
- 合島 怜央奈,山下 佳雄,重松 正仁,檀上 敦,下平 大治,後藤 昌昭
- 日本口腔外科学会雑誌 56(12), 710-714, 2010-12-20
- NAID 10027844198
Related Links
- 原発性高蓚酸尿症(primary hyperoxaluria：PH)は常染色体劣性遺伝の肝内の蓚酸代謝酵素であるAGT(alanine: glyoxylate aminotransferase)酵素欠損によるアミノ酸代謝異常症であり, いわゆる蓚酸症(oxalosis)を引き起こす代表的な疾患で ...
- Hyperoxaluria. The normal upper level of urinary oxalate excretion is 40 mg (440 µmol) in 24 hours. ... High levels of oxalate in the system can produce various health problems, particularly kidney stone formation. The 4 ...
★リンクテーブル★
[★]
- 英
- chronic interstitial nephritis, CIN
- 同
- 慢性尿細管間質性腎炎 chronic tubulointerstitial nephritis
- 関
- 間質性腎炎
原因
- hereditary renal diseases
[★]
- 英
- hyperoxaluria
- 関
- 高シュウ酸塩尿、シュウ酸塩尿症、シュウ酸腎症
[★]
シュウ酸尿症、シュウ酸塩尿症、シュウ酸塩尿
- 関
- hyperoxaluria
[★]
- 英
- hyperoxaluria
- 関
- 高シュウ酸尿症
[★]
原発性高シュウ酸尿症
- 関
- primary oxaluria
[★]
腸管性高シュウ酸尿症