Primary hyperoxaluria
Primary Hyperoxaluria
Primary hyperoxaluria (pronunciation: pri·ma·ry hy·per·ox·a·lu·ria) is a rare genetic disorder characterized by the overproduction of a substance called oxalate (Oxalate). The term "primary hyperoxaluria" is derived from the Greek words "hyper" meaning "over", "oxalate" meaning "a salt or ester of oxalic acid", and "uria" meaning "presence in urine".
Overview
Primary hyperoxaluria is a condition that primarily affects the kidneys. It is caused by the accumulation of large amounts of oxalate in the body. This condition is classified into three types: Primary Hyperoxaluria Type 1 (PH1), Primary Hyperoxaluria Type 2 (PH2), and Primary Hyperoxaluria Type 3 (PH3), each caused by mutations in different genes (AGXT, GRHPR, and HOGA1 respectively).
Symptoms
Symptoms of primary hyperoxaluria can vary greatly from person to person. They may include frequent kidney stones (Kidney stone), urinary tract infections (Urinary tract infection), blood in the urine (Hematuria), and progressive loss of kidney function (Kidney failure).
Diagnosis
Diagnosis of primary hyperoxaluria is often made through a combination of clinical evaluation, detailed patient history, and specialized tests such as genetic testing and urine analysis.
Treatment
Treatment for primary hyperoxaluria is aimed at reducing the amount of oxalate in the body and managing the symptoms. This may include dietary changes, medication, and in severe cases, kidney or liver transplantation (Transplantation).
Prognosis
The prognosis for individuals with primary hyperoxaluria varies depending on the type of the disease, the severity of symptoms, and the individual's response to treatment.
See Also
References
External Links
External links
- Medical encyclopedia article on Primary hyperoxaluria
- Wikipedia's article - Primary hyperoxaluria
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