Wissler Fanconi Syndrome is a rare genetic disorder characterized by impaired reabsorption of various substances from the renal tubules, leading to excessive excretion of amino acids, bicarbonate, glucose, phosphate, and uric acid in the urine. It is named after the American pediatrician James Wissler and the Swiss physician Guido Fanconi, who independently described the syndrome.
This syndrome typically manifests in early childhood, although it can sometimes appear later in adolescence or adulthood. The impaired renal tubular absorption leads to various clinical features, including growth retardation, renal tubular acidosis (a disruption in the acid-base balance of the body), low levels of potassium and bicarbonate in the blood, weak bones prone to fractures, delayed puberty, and impaired kidney function over time.
The exact cause of Wissler Fanconi Syndrome is not fully understood, but it is believed to have a genetic component. In some cases, it can be inherited in an autosomal recessive manner. Other genetic and acquired factors may also contribute to its development.
Treatment for Wissler Fanconi Syndrome focuses on managing the symptoms and preventing complications. This often involves a combination of medication, such as alkali therapy to correct the acid-base imbalance, and dietary modifications to ensure adequate nutrient intake. Regular monitoring of kidney function and bone health is also important.
Overall, Wissler Fanconi Syndrome is a rare disorder characterized by impaired tubular reabsorption in the kidneys, leading to excessive urinary excretion of various substances. It requires lifelong management to minimize symptoms and maintain overall health.
