This syndrome owes its name to Walter Berdon, the doctor who for the first time described it completely in 1976, identifying it in five girls.
In detail, it is a disease characterized by an "excessive dilation of the urinary bladder and a" significant abdominal distension which is associated with a series of serious symptoms that can put the patient's survival at risk.
Unfortunately, the prognosis of Berdon's syndrome is generally poor and the disease can lead to tragic consequences over a more or less wide period of time, depending on the case.
Supportive treatment for this rare disease involves parenteral artificial feeding and urinary catheterization. Multiple organ transplantation appears to be a potential therapeutic strategy to significantly increase patient survival, however, it is a very complicated and accompanied intervention. from all the risks involved.
and for an "equally excessive abdominal distension which results in a series of symptoms and disorders that make it impossible for the patient to normal urination and nutrition which must, therefore, be carried out artificially.
The incidence of Berdon's syndrome is not known (only 230 certain cases have been described up to 2012), however, it predominantly affects females. The transmission is autosomal recessive.
. However, according to various sources, the exact gene responsible for the disease has not yet been precisely identified. Despite this, based on the hypotheses and studies conducted so far, it seems that the possible genes subject to mutations and involved in the origin of the syndrome are:
- The ACTG2 gene, coding for the γ-2-actin protein (present in the smooth muscle of the enteric tract);
- The LMOD1 gene, encoding the leiomodin 1 protein;
- The MYH11 gene, encoding the myosin heavy chain 11;
- The MYLK gene, encoding the myosin light chain protein (enzyme) kinase.
As can be seen, the genes believed to be involved in Berdon's syndrome code for muscle proteins or in any case for proteins involved in the mechanisms that lead to the contraction of smooth muscle (including bladder and enteric tract muscles).
