Hereditary primary Fanconi disease

Hereditary primary Fanconi disease (also known as Fanconi syndrome) is a rare, inherited disease that affects the kidney's ability to absorb and process certain nutrients and substances in the body. This disease is characterized by the inability of the kidneys to reabsorb amino acids, glucose, phosphate, and bicarbonate from the urine, leading to an excess of these substances in the urine (a condition known as renal tubular acidosis) and a deficiency in the blood.

Etiology

Hereditary primary Fanconi disease is caused by mutations in a number of different genes. These mutations lead to the production of abnormal proteins, which disrupt the normal function of the kidneys. The disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the disease.

Symptoms

The symptoms of Hereditary primary Fanconi disease can vary widely, but often include excessive thirst and urination, failure to thrive, growth retardation, rickets, and various bone abnormalities. In some cases, individuals with the disease may also develop renal failure.

Diagnosis

Diagnosis of Hereditary primary Fanconi disease typically involves a combination of urinalysis, blood tests, and genetic testing. Urinalysis can reveal the presence of glucose, amino acids, and other substances in the urine, while blood tests can show a deficiency of these substances in the blood. Genetic testing can confirm the presence of mutations in the genes associated with the disease.

Treatment

Treatment for Hereditary primary Fanconi disease is primarily supportive and aims to manage the symptoms of the disease. This may involve supplementation with vitamins and minerals, medications to reduce the amount of substances excreted in the urine, and in severe cases, kidney transplantation.

Prognosis

The prognosis for individuals with Hereditary primary Fanconi disease can vary widely, depending on the severity of the disease and the individual's response to treatment. With appropriate management, many individuals with the disease can lead relatively normal lives.

See also

• Fanconi syndrome
• Renal tubular acidosis
• Kidney transplantation