Ochoa syndrome

Ochoa syndrome can be caused by mutations in the HPSE2 gene. This gene has been implicated in control of facial expression, urinary voiding and bladder smooth muscle function. The gene provides instructions for making a protein called heparanase 2; however, the exact function of this protein is currently not well understood.

Some people with Ochoa syndrome do not have mutations in the HPSE2 gene. In these individuals, the cause of the disorder is unknown.

While the gene responsible for Ochoa syndrome has recently been identified, genetic testing does not appear to be widely available at this time.

Ochoa syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Treatment for Ochoa syndrome focuses on the specific symptoms that are present in each individual. Management may require the coordinated efforts of a team of specialists, which may include pediatricians, urologists, nephrologists, surgeons, dietitians, and/or other health care professionals.

Early diagnosis and treatment are necessary to prevent upper urinary tract deterioration and renal failure. In many cases, therapy for urinary tract infections includes antibiotics for the treatment and prevention of bacterial infections and pain relievers. Treatment may also involve bladder re-education, anticholinergic therapy and alpha-blockers. In some cases, surgery may be needed to correct urinary tract obstruction and reconstruct certain portions of the urinary tract. Intermittent catheterization may also be needed.

In affected children who experience chronic renal failure, dialysis (hemodialysis and/or peritoneal dialysis) may be necessary. Kidney transplantation may be considered for individuals with severe renal failure.