Fanconioireyhtymässä

Fanconioireyhtymässä, known in English as Fanconi syndrome, is a rare disorder affecting the kidney tubules. It is characterized by a generalized dysfunction of the proximal tubules, leading to excessive loss of essential substances into the urine. These substances include glucose, amino acids, phosphates, bicarbonate, and uric acid.

There are several types of Fanconi syndrome, broadly categorized into inherited and acquired forms. Inherited Fanconi syndrome is often a primary genetic condition, while acquired forms can result from various causes such as certain medications, heavy metal exposure, or other underlying diseases affecting the kidneys.

Symptoms can vary widely depending on the severity and underlying cause. Common signs may include increased thirst and urination, muscle weakness, bone pain, stunted growth in children, and a tendency for dehydration. Laboratory tests are crucial for diagnosis, revealing abnormal levels of electrolytes, glucose, and phosphate in the urine and blood.

Treatment focuses on managing the specific deficiencies and addressing the underlying cause if it is acquired. This often involves electrolyte and vitamin supplementation, phosphate replacement, and dietary adjustments. For inherited forms, the management is typically lifelong. The prognosis depends on the cause, the age of onset, and the effectiveness of treatment. Early diagnosis and management are important to prevent complications such as kidney failure and bone deformities.