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__NOTOC__
__NOTOC__
{{Infobox_Disease |
{{SI}}
{{CMG}}; {{AE}}
 
{{Infobox Disease |
   Name          = Hyperoxaluria |
   Name          = Hyperoxaluria |
   Image          = |
   Image          = Oxalate-ion-2D-skeletal.png  |
   Caption        = |
   Caption        = [[Oxalate]] |
   DiseasesDB    = 31642 |
   DiseasesDB    = 31642 |
   ICD10          = |
   ICD10          = {{ICD10|E|74|8|e|70}} |
   ICD9          = |
   ICD9          = {{ICD9|271.8}} |
   ICDO          = |
   ICDO          = |
   OMIM          = |
   OMIM          = |
Line 12: Line 15:
   eMedicineSubj  = med |
   eMedicineSubj  = med |
   eMedicineTopic = 3027 |
   eMedicineTopic = 3027 |
   MeshID        = |
   MeshID        = D006959 |
}}
}}


{{SI}}
==Overview==
'''Hyperoxaluria''' is an excessive urinary excretion of [[oxalate]]. Individuals with hyperoxaluria often have [[calcium oxalate]] [[kidney stone]]s.  It is sometimes called '''Bird's disease''', after [[Golding Bird]], who first described the condition.
 
==Historical Perspective==
 
==Classification==
===Types===
* Primary hyperoxaluria
* Enteric hyperoxaluria
* [[Idiopathic]] hyperoxaluria
* [[Oxalate]] poisoning
 
==Pathophysiology==
===Controversy===
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. <!--It is in this sense that we could conditionally understand PH1 as a sort of atavism acting on a molecular level. However, this should be taken as a metaphore with all the caveats of metaphoric thinking applied to science.-->
 
==Causes==
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 [[peroxisome]]s, it is targeted to [[mitochondria]], where it is metabolically deficient despite being catalytically active. Type II is associated with [[GRHPR]].<ref name="urlPrimary hyperoxaluria - Genetics Home Reference">{{cite web |url=http://ghr.nlm.nih.gov/condition=primaryhyperoxaluria |title=Primary hyperoxaluria - Genetics Home Reference |format= |work= |accessdate=}}</ref>
It is also a complication of [[jejunoileal bypass]], or in any patient who has lost much of the [[ileum]] with an intact [[Colon (anatomy)|colon]]. This is due to excessive absorption of oxalate from the colon.<ref>Surgery PreTest Self-Assessment and Review, Twelfth Edition</ref>
 
==Differentiating Hyperoxaluria from Other Diseases==
 
==Epidemiology and Demographics==
 
==Risk Factors==
 
==Screening==
 
==Natural History, Complications, and Prognosis==
 
==Diagnosis==
===Diagnostic Criteria===
 
===History and Symptoms===
 
===Physical Examination===
 
===Laboratory Findings===


{{CMG}}
===Imaging Findings===


{{EH}}
===Other Diagnostic Studies===


==Overview==
==Treatment==
'''Hyperoxaluria''' is an excessive urinary excretion of [[oxalate]]. Individuals with hyperoxaluria often have [[calcium oxalate]] [[kidney stone]]s.
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.<ref>[http://content.msn.co.in/News/National/NationalHT_090507_0902 India News & Business - MSN India: News, Business, Finance, Sports, Politics & more. - News<!-- Bot generated title -->]</ref> A favorable outcome is more likely if a kidney transplant is complemented by a liver transplant, given the disease originates in the liver.
===Medical Therapy===


==Differential Diagnosis of Underlying Causes==
===Surgery===
===Chemicals===
*[[Ethylene glycol]]
*[[Oxalate]] poisoning
*Cellulose sodium phosphate


===Genetic===
===Prevention===
[[Autosomal recessive]] conditions include:


*'''Hyperoxaluria, primary type 1'''
==External links==
:Synonyms include Oxalosis type 1; Oxalosis, primary type 1; Alanine-gloxylate aminotransferase (hepatic) deficiency; Glycolic aciduria
* [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ph1  GeneReviews/NIH/NCBI/UW entry on Primary Hyperoxaluria Type 1]
*'''Hyperoxaluria, primary type 2'''
:Synonyms include Oxalosis type 2; D-glycerate dehydrogenase deficiency; Glycerate dehydrogenase deficiency; Hydroxypyruvate reductase / glyoxylate reductase deficiency


===Idiopathic===
==References==
[[Idiopathic]] hyperoxaluria
{{reflist|2}}


===Nutritional conditions===
{{Inborn errors of carbohydrate metabolism}}
*Malabsorption syndrome
{{Abnormal clinical and laboratory findings for urine}}
*Enteric hyperoxaluria
{{DEFAULTSORT:Hyperoxaluria}}


[[fr:Hyperoxalurie type 1]]
[[Category:Endocrinology]]


{{WH}}
{{WS}}
{{WH}}
{{WH}}

Latest revision as of 19:35, 22 July 2016

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Hyperoxaluria
Oxalate
ICD-10 E74.8
ICD-9 271.8
DiseasesDB 31642
eMedicine med/3027 
MeSH D006959

Overview

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.

Historical Perspective

Classification

Types

  • Primary hyperoxaluria
  • Enteric hyperoxaluria
  • Idiopathic hyperoxaluria
  • Oxalate poisoning

Pathophysiology

Controversy

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.

Causes

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]

Differentiating Hyperoxaluria from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

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.

Medical Therapy

Surgery

Prevention

External links

References

  1. "Primary hyperoxaluria - Genetics Home Reference".
  2. Surgery PreTest Self-Assessment and Review, Twelfth Edition
  3. India News & Business - MSN India: News, Business, Finance, Sports, Politics & more. - News

Template:Inborn errors of carbohydrate metabolism

Template:WS Template:WH