BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuFanconi syndromeDe Toni-Fanconi-Debré syndromeFanconi syndrome is a disorder of the kidney tubes in which certain substances normally absorbed into the bloodstream by the kidneys are released into the urine instead. Causes Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown.Common causes of Fanconi syndrome in children are genetic variations that affect the body's ability to break down certain compounds such as: Cystine (cystinosis) Fructose (fructose intolerance) Fructose intoleranceHereditary fructose intolerance is a disorder in which a person lacks the protein needed to break down fructose. Fructose is a fruit sugar that natu...Read Article Now Book Mark Article Galactose (galactosemia) GalactosemiaGalactosemia is a condition in which the body is unable to use (metabolize) the simple sugar galactose.ImageRead Article Now Book Mark Article Glycogen (glycogen storage disease) Cystinosis is the most common cause of Fanconi syndrome in children.Other causes in children include:Exposure to heavy metals such as lead, mercury, or cadmium Lowe syndrome, a rare genetic disorder of the eyes, brain, and kidneys Wilson disease Wilson diseaseWilson disease is an inherited disorder in which there is too much copper in the body's tissues. The excess copper damages the liver and nervous sys...ImageRead Article Now Book Mark Article Dent disease, a rare genetic disorder of the kidneysIn adults, Fanconi syndrome can be caused by various things that damage the kidneys, including: Certain medicines, including azathioprine, cidofovir, gentamicin, and tetracycline Kidney transplant Light chain deposition disease Multiple myeloma Multiple myelomaMultiple myeloma is a blood cancer that starts in the plasma cells in the bone marrow. Bone marrow is the soft, spongy tissue found inside most bone...ImageRead Article Now Book Mark Article Primary amyloidosisPrimary amyloidosisPrimary amyloidosis is a rare disorder in which abnormal proteins build up in tissues and organs. Clumps of the abnormal proteins are called amyloid...ImageRead Article Now Book Mark Article Symptoms Symptoms include:Passing large amounts of urine, which can lead to dehydration Excessive thirst Severe bone pain Fractures due to bone weakness Muscle weakness Exams and Tests Laboratory tests may show that too much of the following substances may be lost in the urine:Amino acids Amino acidsAmino acids are molecules that combine to form proteins. Amino acids and proteins are the building blocks of life. When proteins are digested or bro...ImageRead Article Now Book Mark Article Bicarbonate Glucose Glucose The glucose urine test measures the amount of sugar (glucose) in a urine sample. The presence of glucose in the urine is called glycosuria or gluco...ImageRead Article Now Book Mark Article Magnesium Phosphate Potassium PotassiumThe potassium urine test measures the amount of potassium in the urine.ImageRead Article Now Book Mark Article Sodium SodiumThe sodium urine test measures the amount of sodium the urine. Sodium can also be measured in a blood sample.ImageRead Article Now Book Mark Article Uric acidUric acidThe uric acid urine test measures the level of uric acid in the urine. The uric acid blood level can be checked using a blood test.ImageRead Article Now Book Mark Article Loss of these substances can lead to a variety of problems. Further tests and a physical exam may show signs of:Dehydration due to excess urination Growth failure Osteomalacia OsteomalaciaOsteomalacia is softening of the bones. It most often occurs because of a problem with vitamin D, which helps your body absorb calcium. Your body n...ImageRead Article Now Book Mark Article Rickets RicketsRickets is a disorder caused by a lack of vitamin D, calcium, or phosphate. It leads to softening and weakening of the bones.ImageRead Article Now Book Mark Article Type 2 renal tubular acidosisType 2 renal tubular acidosisProximal renal tubular acidosis is a disease that occurs when the kidneys don't properly remove acids from the blood into the urine. As a result, to...ImageRead Article Now Book Mark Article Treatment Many different diseases can cause Fanconi syndrome. The underlying cause and its symptoms should be treated as appropriate. Outlook (Prognosis) The prognosis depends on the underlying disease. When to Contact a Medical Professional Contact your health care provider if you have dehydration or muscle weakness.Open ReferencesReferencesBonnardeaux A, Bichet DG. Inherited disorders of the renal tubule. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 44.Chua AN, Kumar R, Foreman JW. Fanconi syndrome and other proximal tubule disorders. In: Johnson RJ, Floege J, Tonelli M, eds. Comprehensive Clinical Nephrology. 7th ed. Philadelphia, PA: Elsevier; 2024:chap 50.AllVideoImagesTogKidney anatomy - illustration The kidneys are responsible for removing wastes from the body, regulating electrolyte balance and blood pressure, and the stimulation of red blood cell production.Kidney anatomyillustrationKidney anatomy - illustration The kidneys are responsible for removing wastes from the body, regulating electrolyte balance and blood pressure, and the stimulation of red blood cell production.Kidney anatomyillustrationRelated Information Review Date: 3/31/2024 Reviewed By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. 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Fanconi syndromeDe Toni-Fanconi-Debré syndromeFanconi syndrome is a disorder of the kidney tubes in which certain substances normally absorbed into the bloodstream by the kidneys are released into the urine instead. Causes Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown.Common causes of Fanconi syndrome in children are genetic variations that affect the body's ability to break down certain compounds such as: Cystine (cystinosis) Fructose (fructose intolerance) Fructose intoleranceHereditary fructose intolerance is a disorder in which a person lacks the protein needed to break down fructose. Fructose is a fruit sugar that natu...Read Article Now Book Mark Article Galactose (galactosemia) GalactosemiaGalactosemia is a condition in which the body is unable to use (metabolize) the simple sugar galactose.ImageRead Article Now Book Mark Article Glycogen (glycogen storage disease) Cystinosis is the most common cause of Fanconi syndrome in children.Other causes in children include:Exposure to heavy metals such as lead, mercury, or cadmium Lowe syndrome, a rare genetic disorder of the eyes, brain, and kidneys Wilson disease Wilson diseaseWilson disease is an inherited disorder in which there is too much copper in the body's tissues. The excess copper damages the liver and nervous sys...ImageRead Article Now Book Mark Article Dent disease, a rare genetic disorder of the kidneysIn adults, Fanconi syndrome can be caused by various things that damage the kidneys, including: Certain medicines, including azathioprine, cidofovir, gentamicin, and tetracycline Kidney transplant Light chain deposition disease Multiple myeloma Multiple myelomaMultiple myeloma is a blood cancer that starts in the plasma cells in the bone marrow. Bone marrow is the soft, spongy tissue found inside most bone...ImageRead Article Now Book Mark Article Primary amyloidosisPrimary amyloidosisPrimary amyloidosis is a rare disorder in which abnormal proteins build up in tissues and organs. Clumps of the abnormal proteins are called amyloid...ImageRead Article Now Book Mark Article Symptoms Symptoms include:Passing large amounts of urine, which can lead to dehydration Excessive thirst Severe bone pain Fractures due to bone weakness Muscle weakness Exams and Tests Laboratory tests may show that too much of the following substances may be lost in the urine:Amino acids Amino acidsAmino acids are molecules that combine to form proteins. Amino acids and proteins are the building blocks of life. When proteins are digested or bro...ImageRead Article Now Book Mark Article Bicarbonate Glucose Glucose The glucose urine test measures the amount of sugar (glucose) in a urine sample. The presence of glucose in the urine is called glycosuria or gluco...ImageRead Article Now Book Mark Article Magnesium Phosphate Potassium PotassiumThe potassium urine test measures the amount of potassium in the urine.ImageRead Article Now Book Mark Article Sodium SodiumThe sodium urine test measures the amount of sodium the urine. Sodium can also be measured in a blood sample.ImageRead Article Now Book Mark Article Uric acidUric acidThe uric acid urine test measures the level of uric acid in the urine. The uric acid blood level can be checked using a blood test.ImageRead Article Now Book Mark Article Loss of these substances can lead to a variety of problems. Further tests and a physical exam may show signs of:Dehydration due to excess urination Growth failure Osteomalacia OsteomalaciaOsteomalacia is softening of the bones. It most often occurs because of a problem with vitamin D, which helps your body absorb calcium. Your body n...ImageRead Article Now Book Mark Article Rickets RicketsRickets is a disorder caused by a lack of vitamin D, calcium, or phosphate. It leads to softening and weakening of the bones.ImageRead Article Now Book Mark Article Type 2 renal tubular acidosisType 2 renal tubular acidosisProximal renal tubular acidosis is a disease that occurs when the kidneys don't properly remove acids from the blood into the urine. As a result, to...ImageRead Article Now Book Mark Article Treatment Many different diseases can cause Fanconi syndrome. The underlying cause and its symptoms should be treated as appropriate. Outlook (Prognosis) The prognosis depends on the underlying disease. When to Contact a Medical Professional Contact your health care provider if you have dehydration or muscle weakness.Open ReferencesReferencesBonnardeaux A, Bichet DG. Inherited disorders of the renal tubule. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 44.Chua AN, Kumar R, Foreman JW. Fanconi syndrome and other proximal tubule disorders. In: Johnson RJ, Floege J, Tonelli M, eds. Comprehensive Clinical Nephrology. 7th ed. Philadelphia, PA: Elsevier; 2024:chap 50.