Fanconi syndrome

Fanconi syndrome

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Other Names: Primary Fanconi syndrome; Fanconi renotubular syndrome; Primary Fanconi renotubular syndrome

Fanconi syndrome (FS) affects the way the kidneys work. In FS, the kidneys do not properly absorb electrolytes and other substances into the body.

Epidemiology

Fanconi syndrome can be isolated or acquired, and may be caused by genetic variants or environmental exposures. Because it has many different causes, it is unclear how many people have this condition.

Cause

Fanconi syndrome (FS) can occur by itself (isolated FS) or along with other inherited conditions. Isolated FS can be caused by the EHHADH, SLC34A1, GATM, or NDUFAF6 gene not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all. In many cases, FS occurs a part of another inherited condition. Cystinosis is the most common inherited condition associated with FS. FS can also be caused by environmental causes, such as heavy metals, drugs used in chemotherapy, and some other chemicals.

Inheritance

Fanconi syndrome that occurs on it's own (isolated Fanconi syndrome) can be inherited in families. The inheritance pattern may depend on the gene variant responsible for Fanconi syndrome, and may be either autosomal dominant or autosomal recessive. If Fanconi syndrome occurs as part of another condition, inheritance depends on the underlying condition. Many cases of Fanconi syndrome are not inherited in families and occur due to environmental exposures.

Signs and symptoms

The following list includes the most common signs and symptoms in people with Fanconi syndrome (FS). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition. Symptoms may include:

• Excess protein and other nutrients in the urine
• Growth delay
• Dehydration
• Thirst
• Fatigue
• Muscle weakness
• FS may cause soft, weak bones, known an rickets in children and osteomalacia in adults. This can lead to bone pain and fractures. Lack of absorption of potassium can lead to tremor, numbness, and tingling. In some cases, FS can sometimes lead to kidney failure.

Diagnosis

Fanconi syndrome is diagnosed based on the symptoms, clinical exam, and urine testing. People with Fanconi syndrome may have abnormally high amounts of protein, glucose, potassium, and salts in their urine.

Treatment

Treatment for Fanconi syndrome depends on the cause, and is focused on managing the symptoms. In general, treatment involves maintaining fluid balance through replacement of the nutrients lost in the urine. In severe cases, some people may develop kidney failure and need a kidney transplant. Specialists involved in the care of someone with Fanconi syndrome may include:

• Nephrologist
• Orthopedist
• Nutritionist

NIH genetic and rare disease info

• NIH info on Fanconi syndrome

Fanconi syndrome is a rare disease.

Fanconi syndrome Resources
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