Primary hyperoxaluria: Difference between revisions
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{{Short description|Overview of primary hyperoxaluria, a rare genetic disorder}} | |||
== | ==Primary Hyperoxaluria== | ||
[[File:Structure_of_oxalate.svg|thumb|right|Structure of oxalate, a key compound involved in primary hyperoxaluria]] | |||
'''Primary hyperoxaluria''' is a rare [[genetic disorder]] characterized by the overproduction of [[oxalate]], a type of [[organic acid]] that combines with [[calcium]] to form [[calcium oxalate]] crystals. These crystals can accumulate in the [[kidneys]] and other organs, leading to [[kidney stones]], [[nephrocalcinosis]], and eventually [[renal failure]]. | |||
The | ==Pathophysiology== | ||
Primary hyperoxaluria is caused by mutations in genes responsible for the metabolism of [[glyoxylate]], a precursor to oxalate. The most common form, primary hyperoxaluria type 1, is due to mutations in the [[AGXT]] gene, which encodes the enzyme [[alanine-glyoxylate aminotransferase]]. This enzyme is crucial for converting glyoxylate to [[glycine]], preventing its conversion to oxalate. | |||
==Types== | |||
There are three main types of primary hyperoxaluria: | |||
* '''Primary hyperoxaluria type 1 (PH1)''': Caused by mutations in the [[AGXT]] gene. | |||
* '''Primary hyperoxaluria type 2 (PH2)''': Caused by mutations in the [[GRHPR]] gene, affecting the enzyme [[glyoxylate reductase/hydroxypyruvate reductase]]. | |||
* '''Primary hyperoxaluria type 3 (PH3)''': Caused by mutations in the [[HOGA1]] gene, affecting the enzyme [[4-hydroxy-2-oxoglutarate aldolase]]. | |||
==Symptoms== | |||
The symptoms of primary hyperoxaluria can vary but often include: | |||
* Recurrent [[kidney stones]] | |||
* [[Hematuria]] (blood in urine) | |||
* [[Urinary tract infections]] | |||
* [[Nephrocalcinosis]] | |||
* [[Renal failure]] | |||
Diagnosis of primary hyperoxaluria | ==Diagnosis== | ||
Diagnosis of primary hyperoxaluria involves: | |||
* | * Measurement of oxalate levels in urine and plasma | ||
* Genetic testing to identify mutations in the relevant genes | |||
* Genetic testing to identify mutations in the | * Kidney imaging to detect stones or nephrocalcinosis | ||
== Treatment == | ==Treatment== | ||
Treatment strategies for primary hyperoxaluria include: | |||
* High fluid intake to dilute urine | |||
* Use of [[potassium citrate]] to inhibit stone formation | |||
* [[Pyridoxine]] (vitamin B6) supplementation, particularly in PH1 | |||
* [[Liver transplantation]] in severe cases, especially for PH1 | |||
* [[Kidney transplantation]] in cases of renal failure | |||
==Prognosis== | |||
The prognosis for individuals with primary hyperoxaluria varies depending on the type and severity of the disease. Early diagnosis and management can improve outcomes, but many patients may eventually require [[dialysis]] or [[transplantation]]. | |||
== | ==Related pages== | ||
* [[Kidney stone]] | * [[Kidney stone]] | ||
* [[ | * [[Genetic disorder]] | ||
* [[ | * [[Renal failure]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category: | [[Category:Metabolic disorders]] | ||
Revision as of 05:48, 16 February 2025
Overview of primary hyperoxaluria, a rare genetic disorder
Primary Hyperoxaluria
Primary hyperoxaluria is a rare genetic disorder characterized by the overproduction of oxalate, a type of organic acid that combines with calcium to form calcium oxalate crystals. These crystals can accumulate in the kidneys and other organs, leading to kidney stones, nephrocalcinosis, and eventually renal failure.
Pathophysiology
Primary hyperoxaluria is caused by mutations in genes responsible for the metabolism of glyoxylate, a precursor to oxalate. The most common form, primary hyperoxaluria type 1, is due to mutations in the AGXT gene, which encodes the enzyme alanine-glyoxylate aminotransferase. This enzyme is crucial for converting glyoxylate to glycine, preventing its conversion to oxalate.
Types
There are three main types of primary hyperoxaluria:
- Primary hyperoxaluria type 1 (PH1): Caused by mutations in the AGXT gene.
- Primary hyperoxaluria type 2 (PH2): Caused by mutations in the GRHPR gene, affecting the enzyme glyoxylate reductase/hydroxypyruvate reductase.
- Primary hyperoxaluria type 3 (PH3): Caused by mutations in the HOGA1 gene, affecting the enzyme 4-hydroxy-2-oxoglutarate aldolase.
Symptoms
The symptoms of primary hyperoxaluria can vary but often include:
- Recurrent kidney stones
- Hematuria (blood in urine)
- Urinary tract infections
- Nephrocalcinosis
- Renal failure
Diagnosis
Diagnosis of primary hyperoxaluria involves:
- Measurement of oxalate levels in urine and plasma
- Genetic testing to identify mutations in the relevant genes
- Kidney imaging to detect stones or nephrocalcinosis
Treatment
Treatment strategies for primary hyperoxaluria include:
- High fluid intake to dilute urine
- Use of potassium citrate to inhibit stone formation
- Pyridoxine (vitamin B6) supplementation, particularly in PH1
- Liver transplantation in severe cases, especially for PH1
- Kidney transplantation in cases of renal failure
Prognosis
The prognosis for individuals with primary hyperoxaluria varies depending on the type and severity of the disease. Early diagnosis and management can improve outcomes, but many patients may eventually require dialysis or transplantation.
