Embolization Of Urinary Bladder for The Treatment of Intractable Unresolving Visible Haematuria an Update

It has been iterated that the Urofacial or Ochoa Syndrome (UFS or UFOS) is typified by an inverted facial expression (those affected seem crying while smiling) that is associated with lower urinary tract dysfunction without evident obstructive or neurological cause. It is stated to be associated with autosomal recessive inheritance mutations within the HPSE2 gene, that is located at 10q23-q24, and the LRGI2 gene, located in 1p13.2; nevertheless, in up to 16% of patients, no associated mutations had been identified. Recent evidence had indicated that these genes are critical to an adequate neurological development to the lower urinary tract and that the origin of the disease appeared to be related to peripheral neuropathy. There is clinical variability among patients who are afflicted by UFS and not all patients with UFS do manifest with the classic two components, and it has even been genetically confirmed in patients with a prior diagnosis of Hinman Syndrome or other urinary bladder dysfunctions. Also, the presence of nocturnal lagophthalmos in these patients had been recently reported. Early recognition and timely diagnosis of UFS are critical for the prevention of complications such as urinary tract infections or chronic kidney disease. Next, to support readers throughout the world about this difficult and enigmatic condition to elucidate, an update of the literature on UFS has been extensively provided in the article.