Ochoa syndrome

What causes 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.

Last updated on 05-01-20

Is genetic testing available for Ochoa syndrome?

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

Last updated on 05-01-20

How is Ochoa syndrome inherited?

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.

Last updated on 05-01-20

How might Ochoa syndrome be treated?

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.

Last updated on 05-01-20

Name: National Kidney Foundation 30 East 33rd Street
New York, NY, 10016, United States
Phone: 212-889-2210 Toll Free: 800-622-9010 Fax : 212-689-9261 Email: info@kidney.org Url: https://www.kidney.org/
Name: American Association of Kidney Patients 3505 E. Frontage Rd., Suite 315
Tampa, FL, 33607-1796, United States
Phone: 813-636-8100 Toll Free: 800-749-2257 Fax : 813-636-8122 Email: info@aakp.org Url: http://www.aakp.org
Name: National Association for Continence (NAFC) P.O. Box 1019
Charleston, SC, 29402-1019, United States
Phone: 843-377-0900 Toll Free: 800-BLADDER Fax : 843-377-0905 Email: memberservices@nafc.org Url: http://www.nafc.org/
Name: American Kidney Fund, Inc. 6110 Executive Boulevard Suite 1010
Rockville, MD, 20852, United States
Phone: 301-881-3052 Toll Free: 866-300-2900 Email: helpline@kidneyfund.org Url: http://www.kidneyfund.org
Tu Y, Yang P, Yang J, Xu Y Xiong F, Yu Q, Gu W, Pond D, Mendelsohn N, Lachmeijer GA, Zhang S, Wang CY. Clinical and genetic characteristics for the Urofacial Syndrome (UFS). Int J Clin Exp Pathol.. Apr 15, 2014; 7(5). 1842-1848. Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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