Not Fanconi Anemia
Although they may share similar names, Fanconi anemia and Fanconi syndrome are distinct medical conditions. Fanconi anemia was first discovered by Guido Fanconi in 1927 and is also referred to as inherited infantile aplastic anemia. This disorder is characterized by enlarged red blood cells, along with low platelet and white blood cell counts. While children affected by Fanconi anemia may exhibit symptoms such as malformed kidneys, it is primarily a disease that affects the bone marrow, rather than the kidneys. It is estimated that approximately one in every 130,000 children is born with this rare condition.
Rickets and Osteomalacia
Rickets and osteomalacia are two conditions that are associated with Fanconi syndrome. Rickets occurs when there is a lack of calcium, vitamin D, and phosphates, resulting in the poor development of bones and a condition known as bow-leggedness. Similarly, osteomalacia is characterized by the softening of bones due to the same deficiencies. When examining individuals with Fanconi syndrome, it has been found that children often have evidence of rickets, while adults tend to show signs of osteomalacia. The primary cause of these conditions in individuals with Fanconi syndrome is the impaired absorption of phosphorus and amino acids in the tubules.