In the Fanconi-Bickel syndrome is a disease in which the storage is impaired glycogen. The disease is very rare and is synonymous with glycogenosis type XI or Bickel-Fanconi glycogenosis. The disease is based on a defect in the ‘GLUT-2’ gene.
What is Fanconi-Bickel Syndrome?
In the context of Fanconi-Bickel syndrome, glycogen storage in the kidneys and liver is disturbed. In addition, the affected patients suffer from pronounced renal tubulopathy and disorders of the metabolism of galactose and glucose. Exact statements on the frequency of Fanconi-Bickel syndrome are currently not possible. However, no more than 200 cases of the disease are currently known.
As a rule, the first symptoms of the disease appear in babies in the first few months after birth. The disease usually manifests itself in symptoms such as rickets and polyuria. The proximal tubule is also affected by the disturbances. Fanconi-Bickel syndrome was named after the doctors Fanconi and Bickel, who first described the disease in 1949.
Causes
According to Homethodology, the Fanconi-Bickel syndrome is based on a genetic defect, so it is a hereditary disease. According to previous study results, it is an autosomal recessive disease.
The exact prevalence has not yet been researched, but Fanconi-Bickel syndrome is a very rare disease. The cause of the disease are gene mutations on the so-called GLUT-2 gene. This leads to genetic mutations of heterozygous and homozygous types.
Symptoms, ailments & signs
In Fanconi-Bickel syndrome, the substance glycogen accumulates in the patient’s liver. In addition, there is a so-called hepatomegaly, a pathological enlargement of the liver and kidneys, whereby the functionality of the kidneys is severely impaired. In addition, the galactose and glucose balance are disturbed.
Some typical symptoms of the disease are already evident in newborns and infants. For example, rickets, which is associated with impaired kidney function, develops. In the further course of the Fanconi-Bickel syndrome, the patients suffer from symptoms such as short stature and a so-called renal osteopathy.
In this context, hepatosplenomegaly and osteoporosis also occur. In young children, the disease often manifests itself initially as a bulging abdomen, which results from hepatosplenomegaly. The pubertal phase sets in later in sick people than in healthy adolescents.
In addition, the patients usually have osteopenia and suffer more from broken bones even as children. With increasing age, the severity of osteoporosis increases. In some of the people affected, the body fat is unusually distributed.
Diagnosis
When diagnosing Fanconi-Bickel syndrome, the attending physician looks at both the obvious symptoms of the disease and the results of various laboratory tests on the patient. If babies suffer from typical symptoms a few months after birth, appropriate medical examinations are usually ordered quickly.
In view of the low frequency of the disease, however, Fanconi-Bickel syndrome is rarely suspected immediately. The custodians of the sick child are primarily involved in the necessary anamnesis of the patient. They provide the doctor with information on the symptoms of the disease. In addition, with the help of the patient’s parents, the specialist can take a family anamnesis, which is important for the diagnosis of the hereditary disease.
After the consultation with the patient, various examination procedures, with which the doctor tries to approach the disease at hand, come first. For example, he uses x-ray examinations, which usually reveal evidence of rickets. Blood tests and urine samples from the patient with appropriate laboratory evaluations also play an essential role.
People with Fanconi-Bickel syndrome have proteinuria, phosphaturia, glucosuria and hypophosphataemia. In addition, hyperuricemia is seen in connection with aminoaciduria. Also biopsies possible with subsequent histological analysis of tissue samples.
Doctors usually recognize liver steatosis and storage of glycogen in the liver and kidneys, more precisely in the area of the proximal tubular cells and the hepatocytes. Ultimately, the Fanconi-Bickel syndrome can be reliably detected with the help of genetic tests.
The gene mutations on the responsible genes are identified. In addition, prenatal diagnosis of the disease is practicable in families with a predisposition. In the differential diagnosis, the doctor primarily rules out the so-called glycogen storage disease type IA, which is also known as Von Gierke disease.
Complications
In most cases, Fanconi-Bickel syndrome results in an enlarged liver and malfunction of the kidneys. Most of those affected are also suffering from short stature. Short stature can lead to difficulties, especially with children, as they are teased about it.
This often leads to depression and other mental health problems. The risk of bone fractures is greatly increased by the Fanconi-Bickel syndrome, so that the patient can more easily get injuries. In some cases, patients also suffer from abnormal body fat distribution.
This can also lead to reduced self-esteem and a reduced quality of life. Specific treatment of Fanconi-Bickel syndrome is not possible. It is therefore only possible to treat the symptoms and keep them to a minimum. The addition of electrolytes strengthens the kidneys. The patient must maintain a galactose-free diet and consume enough fructose.
In general, a healthy lifestyle also has a positive effect on Fanconi-Bickel syndrome. In some cases, life expectancy is reduced when the kidney dysfunction is severe. Pain can be treated with the help of pain therapy, but long-term use of painkillers should be avoided.
When should you go to the doctor?
Since the Fanconi-Bickel syndrome does not heal itself or the symptoms improve, the disease must always be examined by a doctor and treated further. This is a good way to avoid further complications.
The doctor should then be seen if the person has a significantly enlarged liver. This is also noticeable through pain in this area of the body, among other things. Kidney function can also be disturbed, but this can only be examined with a blood test.
A visit to a doctor is also necessary if the person concerned suffers from short stature. Increased bone fractures or discomfort when the bones grow together can indicate Fanconi-Bickel syndrome and should be examined by a doctor. Usually the condition can be diagnosed by a pediatrician or a general practitioner.
The symptoms are then usually treated with the help of medication and can limit these. Since Fanconi-Bickel syndrome can also lead to psychological complaints, these should be looked after by a psychologist or a therapist. The syndrome itself does not usually reduce the patient’s life expectancy.
Treatment & Therapy
So far there are no effective options available for a causal treatment of Fanconi-Bickel syndrome. Instead, the patient’s complaints are treated as well as possible. The impairment of kidney function is treated with an additional dose of electrolytes and water. In addition, the patients received phosphate and vitamin D.
Ideally, the sick people stick to a low-galactose diet. The intake of sufficient fructose plays an important role, as this substance provides the required carbohydrates. The course and prognosis of Fanconi-Bickel syndrome have not yet been adequately researched. However, it has been shown that renal tubulopathy is also present in adult patients. However, it rarely results in kidney weakness.
Outlook & forecast
Fanconi-Bickel syndrome is usually not life-threatening. If the glycogen storage disease is recognized early and treated by a specialist, serious complications can be averted. In individual cases, however, the symptoms can develop into renal insufficiency, which is associated with further complications and is potentially life-threatening.
The Fanconic-Bickel syndrome also causes severe deficiency symptoms, which put a long-term burden on the body. Nevertheless, the prognosis is basically positive. Patients who see a doctor at the first symptoms and who adhere to the doctor’s instructions regarding diet and medication will recover within a few months. Long-term consequences are not to be expected in the case of Fanconi-Bickel syndrome, provided that the necessary treatment measures have been taken. The disease does not reduce life expectancy.
Well-being is reduced during the acute phase of the disease and also during therapy, the extent of the restrictions depending on the symptoms, the age of the patient and other factors which the doctor must take into account when making the prognosis. The drug treatment of vitamin D and phosphate can occasionally lead to side effects and interactions, which can worsen the prospect of a quick recovery.
Prevention
Fanconi-Bickel syndrome as a genetically triggered disease cannot be prevented.
Aftercare
With Fanconi-Bickel syndrome, there are usually no special follow-up options available to those affected. The patient is primarily dependent on early diagnosis and treatment, as otherwise serious complications can arise. Since Fanconi-Bickel syndrome can only be treated symptomatically and not causally, genetic counseling is useful if you want to have children in order to prevent the syndrome from being passed on to children.
Treatment of the syndrome is usually done with the help of medication. Those affected must also ensure a high intake of fluids in order not to damage the kidneys. The internal organs should be checked regularly by a doctor in order to identify and treat damage at an early stage. A special diet is also necessary, which must be followed by the person affected.
Parents should pay attention to this diet, especially with children. If the kidneys are weak, a transplant or dialysis may be necessary, which is why the life expectancy of those affected by Fanconi-Bickel syndrome may be reduced. Furthermore, care from one’s own family and friends is often helpful and has a positive effect on the course of the disease.
You can do that yourself
In the case of Fanconi-Bickel syndrome, those affected have very few options for self-help. The syndrome itself cannot be prevented, so that usually only symptomatic treatment by a doctor can take place.
Those affected have to rely on a low-galactose diet in their everyday life to alleviate the symptoms of the syndrome. Fruits and vegetables in particular can have a positive effect on the course of the disease, as they are high in fructose. Furthermore, a healthy lifestyle generally has a very positive effect on the disease. Since those affected can also suffer from weakened kidney function due to Fanconi-Bickel syndrome, electrolytes should be added to the water on a regular basis.
Various dietary supplements, such as vitamin D or phosphate, can also have a positive effect on the course of the syndrome. Long-term use of these supplements should only take place after consulting a doctor. Long-term use of pain medication should also always be discussed with a doctor.
Furthermore, those affected depend on regular examinations of the kidneys and other internal organs in order to detect symptoms and complications at an early stage.
