Hyperoxaluria, Primary, Type I
This is an inherited disorder of metabolism in which a malfunctioning enzyme leads to an accumulation of crystals of oxalate in tissues.
Clinical Correlations ...
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: ...
Hyperoxaluria occurs when you have too much oxalate in your urine. Oxalate is a normal product of metabolism in your body, but too much of it in your urine can cause serious problems.
Primary hyperoxaluria is caused by the shortage (deficiency) of an enzyme that normally prevents the buildup of oxalate. There are two types of primary hyperoxaluria, distinguished by the enzyme that is deficient.
Hyperoxaluria prevention varies. Patients with small-bowel disease can be treated with a combination of high fluid intake, Ca loading (usually in the form of Ca citrate 400 mg po bid), cholestyramine Some Trade Names
QUESTRAN ...
hyperoxaluria: Unusually large amounts of oxalate in the urine, leading to kidney stones.
hyperuricosuria: Excess excretion of uric acid in the urine.
incision: Surgical cut for entering the body to perform an operation.
Hyperoxaluria is defined as either primary or secondary.
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Hyperoxaluria can be either primary or secondary.
Primary hyperoxaluria is an inherited disorder in which too much oxalate in the urine is the main problem.
primary hyperoxaluria - caused by mutations in the AGXT gene Researchers have identified about 50 AGXT mutations that cause type 1 primary hyperoxaluria.
Cystinuria and hyperoxaluria are two other rare, inherited metabolic disorders that often cause kidney stones.
Hyperoxaluria, Primary (Type I)
Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome
Hyperphenylalanemia
Hyperpotassemia
Hyperprolinemia Type I
Hyperprolinemia Type II
Hyperpyrexia
Hypersensitivity Pneumonitis ...
Primary hyperoxaluria type 1 ... gangrene
Protoporphyria ... thickened skin
Prurigo ... increased pigmentation, lichenification, thickened skin
Prurigo nodularis of Hyde ... increased pigmentation, lichenification, thickened skin ...
Too much oxalate in urine (hyperoxaluria)
Too little magnesium in urine (hypomagnesemia)
Too much calcium in the urine (hypercalciuria)
Too much calcium in the blood (hypercalcemia)
Too little citrate in the urine (hypocitraturia) ...
multiple, LUACRG, Dipeptidyl Peptidase A, DU 23000, Enzyme, Malate Condensing, Galactose alpha-N-Acetylgalactosaminyltransferase, Fucosyl, gamma Chlordane, Hebephrenic Schizophrenia, Hernias, Cerebral, Hybridization, Nucleic Acid, Hyperoxaluria, ...
Hyperoxaluria: Urine has high amounts of the oxalate, which may not dissolve fully in urine.
Hypercalciuria: The body absorbs too much calcium, which then can't be dissolved into urine and may create bladder and kidney stones.
Rare disorders that can cause kidney stones include renal tubular acidosis, sometimes a hereditary disease; cystinuria (crystals of cystine form) and hyperoxaluria (crystals of oxalate form).
Alport syndome
Bartter syndrome
Chronic glomerulonephritis
Medullary sponge kidney
Primary hyperoxalurias
Renal transplant rejection
Renal tubular acidosis
Renal cortical necrosis ...
kidney stones is higher in those with family histories of stones; those who have urinary tract infections, kidney disorders and metabolic disorders such as hyperparathyroidism, cystinuria (too much of an amino acid called cystine) or hyperoxaluria ...
Other conditions associated with an increased risk of kidney stones include hyperparathyroidism, kidney diseases such as renal tubular acidosis, and some inherited metabolic conditions, including cystinuria and hyperoxaluria.
The reasons why some people develop kidney stones are not fully understood. Aside from more obvious risk factors, metabolic conditions e.g. hyperparathyroidism, cystinuria (inherited disease), and hyperoxaluria (inherited disease) are also common ...
Calcium stones - Stones composed purely or predominantly of calcium oxalate can occur in various disorders. In general, calcium phosphate stones are associated with the same risk factors as calcium oxalate stones (other than hyperoxaluria) [7].
The resolution of other causes such as hyperparathyroidism may result in the complete resolution of renal disease. Other causes, however, such as hyperoxaluria will progress to chronic renal failure over time.
People with calcium stones may have other diseases that cause them to have increased blood levels of calcium. These diseases include primary parathyroidism, sarcoidosis, hyperthyroidism, renal tubular acidosis, multiple myeloma, hyperoxaluria, ...
 See also: Oxaluria, Kidney, Symptom, Kidney stones, Urinary tract
  
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