Primary hyperoxaluria: Difference between revisions
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{{Infobox medical condition | |||
| name = Primary hyperoxaluria | |||
| image = [[File:Structure_of_oxalate.svg|200px]] | |||
| caption = Structure of oxalate, the compound that accumulates in primary hyperoxaluria | |||
| field = [[Nephrology]] | |||
| symptoms = [[Kidney stones]], [[nephrocalcinosis]], [[renal failure]] | |||
| complications = [[End-stage renal disease]], [[systemic oxalosis]] | |||
| onset = Usually in [[childhood]] | |||
| duration = [[Chronic]] | |||
| types = Type 1, Type 2, Type 3 | |||
| causes = [[Genetic mutation]] | |||
| risks = Family history | |||
| diagnosis = [[Genetic testing]], [[urine oxalate]] levels | |||
| differential = [[Secondary hyperoxaluria]], [[calcium oxalate stones]] | |||
| prevention = None | |||
| treatment = [[Pyridoxine]], [[kidney transplantation]], [[liver transplantation]] | |||
| medication = [[Vitamin B6]], [[potassium citrate]] | |||
| prognosis = Variable, depends on type and treatment | |||
| frequency = Rare | |||
}} | |||
{{Short description|Overview of primary hyperoxaluria, a rare genetic disorder}} | {{Short description|Overview of primary hyperoxaluria, a rare genetic disorder}} | ||
'''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]]. | '''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== | ==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. | 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== | ==Types== | ||
There are three main types of primary hyperoxaluria: | There are three main types of primary hyperoxaluria: | ||
* '''Primary hyperoxaluria type 1 (PH1)''': Caused by mutations in the [[AGXT]] gene. | * '''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 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]]. | * '''Primary hyperoxaluria type 3 (PH3)''': Caused by mutations in the [[HOGA1]] gene, affecting the enzyme [[4-hydroxy-2-oxoglutarate aldolase]]. | ||
==Symptoms== | ==Symptoms== | ||
The symptoms of primary hyperoxaluria can vary but often include: | The symptoms of primary hyperoxaluria can vary but often include: | ||
* Recurrent [[kidney stones]] | * Recurrent [[kidney stones]] | ||
* [[Hematuria]] (blood in urine) | * [[Hematuria]] (blood in urine) | ||
| Line 23: | Line 36: | ||
* [[Nephrocalcinosis]] | * [[Nephrocalcinosis]] | ||
* [[Renal failure]] | * [[Renal failure]] | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of primary hyperoxaluria involves: | Diagnosis of primary hyperoxaluria involves: | ||
* Measurement of oxalate levels in urine and plasma | * Measurement of oxalate levels in urine and plasma | ||
* Genetic testing to identify mutations in the relevant genes | * Genetic testing to identify mutations in the relevant genes | ||
* Kidney imaging to detect stones or nephrocalcinosis | * Kidney imaging to detect stones or nephrocalcinosis | ||
==Treatment== | ==Treatment== | ||
Treatment strategies for primary hyperoxaluria include: | Treatment strategies for primary hyperoxaluria include: | ||
* High fluid intake to dilute urine | * High fluid intake to dilute urine | ||
* Use of [[potassium citrate]] to inhibit stone formation | * Use of [[potassium citrate]] to inhibit stone formation | ||
| Line 39: | Line 48: | ||
* [[Liver transplantation]] in severe cases, especially for PH1 | * [[Liver transplantation]] in severe cases, especially for PH1 | ||
* [[Kidney transplantation]] in cases of renal failure | * [[Kidney transplantation]] in cases of renal failure | ||
==Prognosis== | ==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]]. | 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]]. | ||
==See also== | |||
== | |||
* [[Kidney stone]] | * [[Kidney stone]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Renal failure]] | * [[Renal failure]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
Latest revision as of 05:32, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| Primary hyperoxaluria | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Kidney stones, nephrocalcinosis, renal failure |
| Complications | End-stage renal disease, systemic oxalosis |
| Onset | Usually in childhood |
| Duration | Chronic |
| Types | Type 1, Type 2, Type 3 |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Genetic testing, urine oxalate levels |
| Differential diagnosis | Secondary hyperoxaluria, calcium oxalate stones |
| Prevention | None |
| Treatment | Pyridoxine, kidney transplantation, liver transplantation |
| Medication | Vitamin B6, potassium citrate |
| Prognosis | Variable, depends on type and treatment |
| Frequency | Rare |
| Deaths | N/A |
Overview of primary hyperoxaluria, a rare genetic disorder
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[edit]
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[edit]
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[edit]
The symptoms of primary hyperoxaluria can vary but often include:
- Recurrent kidney stones
- Hematuria (blood in urine)
- Urinary tract infections
- Nephrocalcinosis
- Renal failure
Diagnosis[edit]
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[edit]
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[edit]
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.
