Fanconi Syndrome: Causes, Symptoms, Diagnosis, Treatment
Fanconi Syndrome – This is a medical disorder of kidneys in which substances which are normally absorbed in blood by kidneys are released in the urine instead resulting in many disease conditions.
What Is Fanconi Syndrome?
Fanconi Syndrome is a pathological condition of the proximal renal tubules of the kidneys. This is where glucose, amino acids, uric acid, and bicarbonates instead of being reabsorbed in the body pass on to the urine. Fanconi Syndrome usually affects proximal tubule. The proximal tubule is the part of tubule which processes fluids after it is filtered through glomerulus. This condition may be inherited and may even be caused by drugs or heavy metals. Different types of Fanconi Syndrome affect different functions of proximal tubule resulting in numerous complications.
How Is Fanconi Syndrome Caused?
Fanconi Syndrome can also be caused by defective genes or this condition may develop at a later age due to malfunctioning kidneys. There are times, when the exact cause of Fanconi Syndrome remains unknown.
Some of the common causes of Fanconi Syndrome are:
- Fructose intolerance
- Glycogen storage disease
- Exposure to lead, mercury, cadmium etc
- Wilson's disease
- Medications like azathioprine, gentamicin, tetracycline etc can cause Fanconi Syndrome
- Kidney transplantation
- Multiple myeloma
- Primary amyloidosis
What Are The Symptoms Of Fanconi Syndrome?
Some of the symptoms of Fanconi Syndrome are:
- Passing increased amount of urine
- Pain in the bones
How Is Fanconi Syndrome Diagnosed?
A urinalysis will show excessive loss of the following substances confirming the diagnosis of Fanconi Syndrome:
- Amino acids
- Uric Acid
When these vital substances are lost, it results in numerous complications. Apart from this, a physical examination will show:
- Signs of dehydration as a result of excessive urination
- Growth failure
What Are The Treatments For Fanconi Syndrome?
The main aim of treatment for Fanconi Syndrome is replacement of the substances that have been lost in urine.
- Dehydration as a result of loss of urea through urine needs to be stopped by way of adequate hydration and prevention of dehydration.
- Metabolic Acidosis as a result of Fanconi Syndrome can be corrected by administering alkaline solutions. Along with correcting Metabolic Acidosis supplementing phosphorus and vitamin D is also important. The phosphate levels can be corrected by supplementing phosphates.
- As of late, supplementation of carnitine has been attempted for muscle buildup but the results has been a mixed bag.