Fanconisjúkdómur

Fanconisjúkdómur is a rare kidney disorder that affects the proximal tubules, the part of the kidney responsible for reabsorbing essential substances from the filtrate back into the blood. When these tubules are not functioning correctly, valuable nutrients like glucose, amino acids, phosphate, and bicarbonate are lost in the urine. This leads to a variety of health problems.

The condition can be inherited or acquired. Acquired Fanconisjúkdómur can be caused by certain medications, heavy metal poisoning, or other kidney diseases. Inherited forms are often due to genetic mutations affecting the transport proteins within the kidney tubules. Symptoms can vary but often include excessive thirst and urination, dehydration, muscle weakness, bone pain or deformities (rickets in children, osteomalacia in adults), and poor growth in children.

Diagnosis typically involves urine and blood tests to measure the levels of various substances. Treatment focuses on managing the underlying cause if acquired, and supportive care to address the deficiencies caused by the tubular dysfunction. This may include supplements of phosphates, potassium, and vitamin D, as well as medications to manage other symptoms. Prognosis depends on the severity of the condition and the effectiveness of treatment. Early diagnosis and intervention are crucial for preventing long-term complications.