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Glossary for Meier-Blumberg-Imahorn syndrome

  • 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.
  • Coloboma of macula: A hole in the eye structure called the macula which is located in the middle of the retina and is involved in functions such as reading. Severity of symptoms is determined by the size of the defect.
  • 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.
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • Hyperparathyroidism, primary: A rare genetic disorder where excessive activity of the parathyroid gland causes increased blood calcium levels which can cause various problems.
  • Hyperthyroidism: Too much thyroid hormone production.
  • 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.
  • Hypophosphatasia: A rare genetic disorder characterized by short limbs, dwarfism and general lack of bone calcification.
  • Immobility: An inability to mobilise as normal
  • Kidney conditions: Any condition affecting the kidney organs.
  • Kidney failure: Total failure of the kidneys to filter waste
  • Lightwood-Albright syndrome: A rare syndrome caused by kidney dysfunction.
  • Nystagmus: Involuntary jerky eye movements
  • 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.
  • Proximal Renal Tubular Acidosis: This is a condition that is characterised by a metabolic acidosis state caused by impairment of a persons renal function
  • 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.
  • Sarcoidosis: Rare autoimmune disease usually affecting the lungs.
  • Urinary system conditions: Medical conditions affecting urination, urinary organs or the urinary system.
  • Urine substances: Inappropriate levels of substances found in urine
  • Water-Electrolyte Imbalance: The loss of balance between the level of water and the level of electrolytes in the body. Kidney failure is the most common cause of electrolyte balance but it can also be caused by such things as anorexia, bulimia, severe vomiting or diarrhea, dehydration or chronic laxative abuse.
  • Wilson's Disease: Wilson disease, or hepatolenticular degeneration, is a neurodegenerative disease of copper metabolism.

 

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