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Fanconi syndrome or Fanconi's syndrome (English: / f ɑː n ˈ k oʊ n i /, / f æ n-/) is a syndrome of inadequate reabsorption in the proximal renal tubules [1] of the kidney. The syndrome can be caused by various underlying congenital or acquired diseases , by toxicity (for example, from toxic heavy metals ), or by adverse drug reactions . [ 2 ]
Fanconi anemia (FA) is a rare, autosomal recessive, genetic disease resulting in impaired response to DNA damage in the FA/BRCA pathway. Although it is a very rare disorder, study of this and other bone marrow failure syndromes has improved scientific understanding of the mechanisms of normal bone marrow function and development of cancer.
Fanconi–Bickel syndrome is a form of glycogen storage disease named for Guido Fanconi and Horst Bickel, [1] [2] who first described it in 1949.. It is associated with GLUT2, [3] [4] a glucose transport protein which, when functioning normally, allows glucose to exit several tissues, including the liver, nephrons, and enterocytes of the intestines, and enter the blood.
Cystinosis is the most common cause of Fanconi syndrome in the pediatric age group. Fanconi syndrome occurs when the function of cells in renal tubules is impaired, leading to abnormal amounts of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium and phosphates. [citation needed]
Dent's disease (or Dent disease) is a rare X-linked recessive inherited condition that affects the proximal renal tubules [1] of the kidney. It is one cause of Fanconi syndrome , and is characterized by tubular proteinuria , excess calcium in the urine , formation of calcium kidney stones , nephrocalcinosis , and chronic kidney failure .
Etiologies of proximal RTA may be divided into primary, isolated causes and secondary causes, or those related to another disease. [2] Primary causes are frequently single gene hereditary disorders. Secondary disorders can be divided into familial disorders, acquired disorders, and those related to other clinical entities. [citation needed]
An eponymous disease is a disease, disorder, condition, or syndrome named after a person, usually the physician or other health care professional who first identified the disease; less commonly, a patient who had the disease; rarely, a literary character who exhibited signs of the disease or an actor or subject of an allusion, as characteristics associated with them were suggestive of symptoms ...
Fanconi anemia group D2 protein is a protein that in humans is encoded by the FANCD2 gene. [4] [5] The Fanconi anemia complementation group ...