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18
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Nephrocalcinosis
- The AGXT gene provides instructions for making an enzyme called alanine-glyoxylate aminotransferase. This enzyme is found in liver cells, specifically within ...
- Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), ...
- The GRHPR gene provides instructions for making an enzyme called glyoxylate and hydroxypyruvate reductase. This enzyme plays a role in preventing the buildup ...
- ... hypercalciuria) and deposits of calcium in the kidneys (nephrocalcinosis). The hypercalcemia typically causes vomiting, poor feeding, and ... symptoms in infancy or not, typically include hypercalciuria, nephrocalcinosis, and kidney stones (nephrolithiasis), although they may not ...
- ... deficiency develop deposits of calcium in the kidneys (nephrocalcinosis) or kidney (renal) cysts.Many people with mild, ... Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of ...
- ... the urine (hypercalciuria), calcium deposits in the kidneys (nephrocalcinosis), and kidney stones (nephrolithiasis). Kidney stones can cause ... tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a ...
- ... hypercalciuria) and deposits of calcium in their kidneys (nephrocalcinosis).With treatment, the outward symptoms of hypercalcemia, such ... childhood or adulthood. These individuals usually develop hypercalciuria, nephrocalcinosis, and nephrolithiasis, although the features may not cause ...
- ... hypercalciuria) and deposits of calcium in the kidneys (nephrocalcinosis). Individuals with this form of idiopathic infantile hypercalcemia ... symptoms in infancy or not, typically include hypercalciuria, nephrocalcinosis, and kidney stones (nephrolithiasis).The SLC34A1 gene mutations ...
- ... due to deposits of calcium in the kidneys (nephrocalcinosis).The signs and symptoms of glucose-galactose malabsorption ...
- ... also have deposits of calcium in the kidneys (nephrocalcinosis) and often develop chronic kidney failure. Inflammation of ...