What Is Fanconi Syndrome?
Source: Genetic and Rare Diseases (GARD) Information Center
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Fanconi Syndrome
Primary Fanconi syndrome; Fanconi renotubular syndrome; Primary Fanconi renotubular syndrome; De Toni-Fanconi-Debré syndrome
Fanconi syndrome is a rare disorder of kidney tubule function in which certain substances normally absorbed into the bloodstream by the kidneys are released into the urine instead.
3D Rendering of the vascularization of the human kidney
Image by TheVisualMD
Source: Genetic and Rare Diseases (GARD) Information Center
Source: Genetic and Rare Diseases (GARD) Information Center
Source: Genetic and Rare Diseases (GARD) Information Center
Source: Genetic and Rare Diseases (GARD) Information Center
Source: Genetic and Rare Diseases (GARD) Information Center
Amino Acids Test
Also called: Amino Acid Panel
Amino acids are protein building blocks necessary for the body to function properly. When the body cannot break down an amino acid, it starts to build up in the organism, causing serious health problems and even death. The amino acids test is a routine screening test done in all newborns.
Electrolyte Panel
Also called: Electrolytes, Lytes
An electrolyte panel measures the level of the body's main electrolytes. Electrolytes are electrically charged minerals that help control many important functions in the body. Levels that are too high or too low can indicate a serious health problem.
Sodium Blood Test
Also called: Sodium, Hyponatremia Test, Hypernatremia Test
A sodium blood test measures the amount of sodium in your blood. If your sodium blood levels are too high or too low, it may mean that you have a problem with your kidneys, dehydration, or another medical condition.
Chloride Blood Test
Also called: Chloride, Hypochloremia Test, Hyperchloremia Test
A chloride test measures the chloride in your blood. Chloride is a mineral that helps maintain the acid-base balance in your body. The test is usually part of a routine blood screening or to help determine if there is a problem with your body's electrolyte or acid-base (pH) balance.
Potassium Blood Test
Also called: Potassium, Hypokalemia Test, Hyperkalemia Test
A potassium blood test measures the potassium levels in your blood. It is often included in a series of routine blood tests called an electrolyte panel. Too much or too little potassium may indicate a serious medical problem.
Carbon Dioxide Blood Test
Also called: Carbon Dioxide, CO2, Bicarbonate, Metabolic Alkalosis Test, Metabolic Acidosis Test
A carbon dioxide (CO2) blood test measures the amount of carbon dioxide is in the blood in your veins. Too much or too little CO2 in the blood can indicate a health problem. The test is most often done as part of an electrolyte or metabolic panel.
Uric Acid Test
Also called: Urate
A uric acid test measures the amount of uric acid in a sample of blood or urine. Uric acid is a normal body waste product. High levels can cause gout, kidney disease, and other problems.
Source: Genetic and Rare Diseases (GARD) Information Center
Source: Genetic and Rare Diseases (GARD) Information Center
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