Fanconi Syndrome is a rare disorder of the kidneys that is characterised by the inefficient filtering of minerals and nutrients by the kidneys. The condition primarily affects the proximal tubes, which normally reabsorb important metabolites and minerals back into the bloodstream, but instead now release large amounts of them into the urine before it is excreted.
Such essential metabolites and substances include bicarbonates, proteins and amino acids, potassium, phosphates and glucose. The filtration system can normally reabsorb about 98% of all fluids that enter the system, but with Fanconi Syndrome, this is no longer the case, and the following deficiencies may lead to serious health issues like bone deformities.
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The symptoms of inherited Fanconi Syndrome are normally noticeable even during infancy, and they include:
- Kidney disease
- Abnormalities in the cornea
- Frequent urination, or urge to urinate
- Stunted growth
- Low muscle mass
- Excessive thirst
The symptoms of acquired Fanconi Syndrome differ and may include bone disease, weakened muscles, low levels of potassium and phosphates in the blood, and hyperaminoaciduria.
Cystinosis can result in stunted growth and bone deformities. Other causes include Lowe syndrome, inherited fructose intolerance, and Wilson’s disease.
The most common causes of acquired Fanconi Syndrome are certain therapeutic drugs. The causes include regular chemotherapy, and the use of antiviral or antibiotic drugs.
- Expired tetracyclines
- Fumaric acid
- Anticonvulsants like Valproic acid
- Regular consumption of alcohol
- An addiction to sniffing glue
- An exposure to heavy metals or certain chemical irritants
- Vitamin D deficiency
- Multiple Myeloma
- Kidney Transplant
Fanconi Syndrome can only be treated if its cause is known, since treatment varies. Other accompanying conditions must also be taken into account when treatment options are considered.
In the case of children with the inherited type of condition, replacement of excreted nutrients and minerals can prevent stunted development. This replacement would include regular doses of potassium, vitamin D, and phosphates among other substances.
If cystinosis is the cause of the syndrome, treatment should start as soon as possible following early presentation of symptoms. A useful pill that reduces the amount of cystine in the body, Cysteamine, can help prevent the need for kidney transplantation for almost 10 years.
In the case of acquired Fanconi Syndrome, simply halting the use of the medication causing it will eventually allow the kidneys to recover. However, some damage may remain, reducing efficiency permanently.