Primary hyperoxaluria


Primary hyperoxaluria
Primary hyperoxaluria
Classification and external resources
DiseasesDB 6280

Primary hyperoxaluria results in increased excretion of oxalate, with oxalate stones being common. The oxalalate in these common conditions is derived from dietary sources or is secondary to malabsorption. Primary hyperoxaluria, on the other hand, refers to a specific type of hyperoxaluria that is due to a metabolic defect resulting from a heritable genetic defect.

Contents

Pathophysiology

The buildup of oxalate in the body causes increased excretion of oxalate, which in turn results in renal and bladder stones. Stones cause urinary obstruction (often with severe and acute pain), secondary infection of urine and eventually kidney damage.

Oxalate stones in primary hyperoxaluria tend to be severe, resulting in relatively early kidney damage (say teenage, early adulthood), which impairs the excretion of oxalate leading to a further acceleration in accumulation of oxalate in the body.

After the development of renal failure patients may get deposits of oxalate in the bones, joints and bone marrow. Severe cases may develop haematological problems such as anaemia and thrombocytopaenia. The deposition of oxalate in the body is sometimes called "oxalosis" to be distinguished from "oxaluria" which refers to oxalate in the urine.

Renal failure is a serious complication requiring treatment in its own right. Dialysis can control renal failure but tends to be inadequate to dispose of excess oxalate. Renal transplant is more effective and this is the primary treatment of severe hyperoxaluria. Liver transplantation (often in addition to renal transplant) may be able to control the disease by correcting the metabolic defect.

Classification

There are three main types of primary hyperoxaluria, each associated with specific metabolic defects.

Type OMIM Gene
HP1 259900 AGXT
HP2 260000 GRHPR
HP3 613616 DHDPSL[1]

References

  1. ^ Belostotsky R, Seboun E, Idelson GH, et al. (September 2010). "Mutations in DHDPSL are responsible for primary hyperoxaluria type III". Am. J. Hum. Genet. 87 (3): 392–9. doi:10.1016/j.ajhg.2010.07.023. PMID 20797690. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(10)00380-0. 

External links



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Look at other dictionaries:

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  • Hyperoxaluria — An hereditary disorder that causes a special type of stone to form in the kidney and the urine beginning in childhood. Also known as oxalosis. The clinical features of this disease include the following: {{}}Urinary tract: Stones in the urine and …   Medical dictionary

  • type I — primary hyperoxaluria due to deficiency of alanine–glyoxylate transaminase as the result of mutation in the AGXT gene (locus: 2q36 q37) …   Medical dictionary

  • type II — primary hyperoxaluria, milder than type I, caused by mutation in the GRHPR gene (locus: 9cen), resulting in a defect in an enzyme complex involved in the metabolism of hydroxypyruvate to D glycerate …   Medical dictionary

  • PH1 — • primary hyperoxaluria type 1 …   Dictionary of medical acronyms & abbreviations

  • AGXT — Alanine glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine pyruvate aminotransferase), also known as AGXT, is a human gene.cite web | title = Entrez Gene: AGXT alanine glyoxylate aminotransferase (oxalosis I;… …   Wikipedia

  • GRHPR — Glyoxylate reductase/hydroxypyruvate reductase, also known as GRHPR, is a human gene.cite web | title = Entrez Gene: GRHPR glyoxylate reductase/hydroxypyruvate reductase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView… …   Wikipedia

  • Kidney stone — Classification and external resources …   Wikipedia

  • oxalosis — Widespread deposition of calcium oxalate crystals in the kidneys, bones, arterial media, and myocardium, with increased urinary excretion of oxalate; may be an acquired disorder, as in oxalate poisoning …   Medical dictionary


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