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Diseases » Nephrocalcinosis » Glossary

Glossary for Nephrocalcinosis

Amelogenesis Imperfeca, Hypoplastic, and Nephrocalcinosis: A rare disorder involving abnormal tooth development and kidney problems.
Apparent Mineralocorticoid Excess, type 2: A form of inherited high blood pressure that starts during early childhood. The condition is caused by a genetic defect which results in an inborn error of metabolism of peripheral cortisol. Type 2 causes similar symptoms to type 1 but the urinary steroid levels are different.
Apparent mineralocorticoid excess: A form of inherited high blood pressure that starts during early childhood. The condition results from a genetic defect which causes impaired metabolism of cortisol.
Arthrogryposis - renal dysfunction - cholestasis syndrome: A very rare syndrome characterized by joint contractures, kidney dysfunction and liver problems.
Bartter's syndrome, antenatal type 1: A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis.
Bartters syndrome, antenatal , type 2: A rare genetic kidney disorder that causes hypokalemia. A defect in the ROMK gene impairs the ATP-regulated potassium channel functioning and leads to electrolyte imbalance.
Bone cancer: Malignancy that occurs in the bone
Dent syndrome: A rare X-linked inherited kidney disorder involving kidney tubule damage resulting in progressive kidney dysfunction.
Dent's disease: A rare kidney disease inherited in a X-linked manner. It involves kidney tubule damage which results in progressive kidney dysfunction. There are two types of Dent's disease and they differ in the origin of the genetic defect.
Hypercalcemia: Raised level of calcium in the blood
Hyperparathyroidism: Increased secretion of parathyroid hormone from the parathyroid glands.
Hyperparathyroidism, primary: A rare genetic disorder where excessive activity of the parathyroid gland causes increased blood calcium levels which can cause various problems.
Hypomagnesemia caused by selective magnesium malabsorption: A rare genetic disorder which causes low blood magnesium and results in low calcium levels also. Death can occur if left untreated. The condition is believed to results from abnormal intestinal absorption of magnesium rather than the excessive secretion of magnesium via malfunctioning kidneys.
Hypomagnesemia primary: Low blood magnesium levels which is caused by the abnormal absorption and excretion of the mineral and can be caused by such things as kidney problems and intestinal malabsorption.
Hypophosphatasia: A rare genetic disorder characterized by short limbs, dwarfism and general lack of bone calcification.
Increased thirst: excessive thirst is an abnormal feeling of always needing to drink fluids
Kidney conditions: Any condition affecting the kidney organs.
Kidney disease: Reduced kidney function from various causes.
Kidney stones: Stone-like calcium deposits in the kidney.
Kidney symptoms: Symptoms affecting one or both kidneys.
Lightwood-Albright syndrome: A rare syndrome caused by kidney dysfunction.
Manz syndrome: A rare inherited kidney disorder characterized low blood magnesium and high urine calcium levels as well as nystagmus.
Medullary Sponge Kidney: A rare inherited disorder where the tubes in the kidneys that collect urine are wider than normal.
Milk-Alkali syndrome: Milk-Alkali syndrome is a condition where the body is too alkaline and the blood contains too much calcium which results in impaired kidney function. It can be caused by drinking large quantities of milk or using too many alkaline antacid remedies. High vitamin D intake can make the condition worse. The people most at risk of this condition tend to be older people (especially women) who are taking calcium supplements as well as calcium carbonate containing remedies to treat dyspepsia.
Multiple Myeloma: A rare malignant cancer that occurs in the bone marrow. More common in skull, spine, rib cage, pelvis and legs.
Nephritis: Any type of kidney inflammation
Nephrolithiasis type 1: A rare X-linked inherited kidney disorder involving kidney tubule damage resulting in progressive kidney dysfunction. The disorder is caused by a genetic mutation on chromosome Xp11.22.
Nephrolithiasis type 2: A rare X-linked inherited kidney disorder involving kidney tubule damage resulting in progressive kidney dysfunction. The disorder is caused by a genetic mutation on chromosome Xq26.1.
No symptoms: The absence of noticable symptoms.
Oxalosis: A rare inherited metabolic disorder where excess oxalic acid forms crystals which make up urinary stones. In type I primary hyperoxaluria there is a deficiency of peroxisomal alanine-glyoxalate aminotransferase and type II involves a deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase.
Oxalosis, Type II: A rare inherited metabolic disorder where excess oxalic acid forms crystals which make up urinary stones. In type I primary hyperoxaluria there is a deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase.
Oxalosis, type I: A rare inherited metabolic disorder where excess oxalic acid forms crystals which make up urinary stones. In type I primary hyperoxaluria there is a deficiency of alanine-glyoxalate aminotransferase.
Paget's disease of bone: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile.
Polyuria: Excessive urination during pregnancy.
Precalicial canalicular ectasia: A rare inherited disorder where the tubes in the kidneys that collect urine are wider than normal.
Primary hyperoxaluria type 1: A rare inherited inborn metabolic disorder characterized by excessive amounts of oxalate in the urine and deposits of oxalate in the kidneys which leads to progressive kidney failure. There are two subtypes of Oxalosis, each with a different origin for the genetic defect involved. Type 1 involves a deficiency of a liver enzyme called Alanine-glyoxylate aminotransferase. Type 2 tends to cause a milder disease than type 1 with better longterm outcomes.
Renal Magnesium Wasting - hypercalciuria - nephrocalcinosis - Ocular disorders: A rare form of progressive kidney disease associated with eye problems.
Renal hypomagnesemia - hypercalciuria - nephrocalcinosis: A rare form of kidney disease which is progressive.
Renal tubular acidosis progressive nerve deafness: A kidney disorder where progressive nerve deafness is associated with the kidney's is inability to effectively remove acid from the blood and excrete it into the urine. The defect occurs in the distant portion of the kidney tubules whose job is to remove acid from the blood and excrete it through the urine.
Renal tubular acidosis, distal: A kidney disorder where the kidney is unable to effective remove acid from the blood and excrete it into the urine. The defect occurs in the distant portion of the kidney tubules whose job is to remove acid from the blood and excrete it through the urine.
Renal tubular acidosis, distal - type I: A kidney disorder where the kidney is unable to effective remove acid from the blood and excrete it into the urine. The defect occurs in the distant portion of the kidney tubules whose job is to remove acid from the blood and excrete it through the urine. Type I also involves potassium level abnormalities.
Renal tubular acidosis, distal - type III: A kidney disorder where the kidney is unable to effective remove acid from the blood and excrete it into the urine. The defect occurs in the distant portion of the kidney tubules whose job is to remove acid from the blood and excrete it through the urine. Type III involves the potassium level abnormalities of type I as well as bicarbonate level abnormalities resulting from excessive bicarbonate removal from the blood at the proximal part of the kidney tubules.
Renal tubular acidosis, distal, autosomal dominant: A rare kidney disorder characterized mainly by increased urine alkalinity and high blood acidity due to abnormal kidney functioning.
Renal tubular acidosis, distal, autosomal recessive: A rare kidney disorder characterized mainly by increased urine alkalinity and high blood acidity due to abnormal kidney functioning. Hearing loss may occur later in life.
Sarcoidosis: Rare autoimmune disease usually affecting the lungs.
Urinary stones: Stones in the urinary tract or bladder.
Urinary tract infections: Infection of the urinary system; usually bacterial.
Vitamin A overdose: Overdose of Vitamin A usually due to Vitamin A supplement overuse or poisoning.
Vitamin D overdose: Overdose of vitamin D (usually supplement overdose)
Williams Syndrome: A syndrome characterised by mental retardation, facial abnormalities and emotional instability