Ochoa Syndrome - An Overview

Introduction

Ochoa syndrome is a congenital disorder inherited when both parents have the carrier gene. Studies have shown that it is a rare condition, and a total of 150 cases have been reported so far. Along with urinary tract abnormalities and unusual facial expressions, there are other problems associated with this condition that have been briefly dealt with in this article.

What Is Ochoa Syndrome?

Dr. Bernardo Ochoa described Ochoa syndrome. The syndrome is characterized by abnormal facial expressions along with urinary bladder dysfunction. It is a rare inherited disorder that expresses its signs and symptoms at birth. It expresses an autosomal recessive pattern. Although it affects both genders equally, most cases detected were from Columbia.

What Are the Synonyms for Ochoa Syndrome?

• Hydronephrosis with peculiar facial expressions.

• Inverted smile neurogenic bladder.

• Hydronephrosis inverted smile.

• Urofacial syndrome (abnormal facial movement caused due to abnormal contraction of corners of eyes and mouth).

• Inverted smile and occult neuropathic bladder.

What Causes Ochoa Syndrome?

The HPSE2 gene plays a major role in the pathophysiology of the syndrome. Heparinase 2 is a protein whose functions are controlled by the HPSE2 gene. Mutations in the HPSE2 cause the Ochoa syndrome, which causes abnormal functioning of the proteins leading to disruption of these proteins in playing an active role in maintaining body functions. LRIG2 is another protein that is associated with Ochoa syndrome. In addition, studies have shown that there may be involvement of other undiscovered genes that are involved in the causation of Ochoa syndrome.

What Are the Signs and Symptoms of Ochoa Syndrome?

The first signs are usually discovered in an infant, it is noticed by parents when their child tries to smile, there is an inversion of the angle of the mouth leading to a frown or crying expression.

1. Urinary Problems Associated With Ochoa Syndrome Involve:

• Urinary Incontinence: Leaky urine or urinary incontinence is when an individual finds it difficult to hold urine.

• Vesicoureteral Reflux: When there is a backward flow of urine to the kidneys from the bladder through the ureters. Difficulty in being able to empty the bladder may lead to vesicoureteral reflux.

• Hydronephrosis: When the urine does not empty from the body, it leads to the swelling of the kidneys.

• Congenital Obstructive Uropathy: Abnormal development of the urinary tract.

These conditions lead to further complications, such as pyelonephritis (inflammation of the kidney) and kidney failure. Nocturnal lagophthalmos: Partial closing of the eyelids while sleeping, resulting in dry eyes while awakening.

2. Gastrointestinal Symptoms Involve:

• Constipation: Difficulty in passing stool and having lesser bowel movements is referred to as constipation.

• Fecal Retention: A large hard mass of stool gets lodged in the colon and cannot be pushed out. This is a serious problem and requires immediate medical attention.

• Rectal Prolapse: Slipping off of the lower portion of the large intestine through the anus is called rectal prolapse. It is caused due to the stretching of the rectum.

3. Some of the Lesser Common Symptoms Involve:

• Polydipsia: Frequent thirst and having an excessive need to drink water.

• Polyuria: This is the increased frequency of passing urine because the body produces more urine.

• Dysuria: Discomfort or pain while urinating.

• Hematuria: Presence of blood in the urine. There are two types: gross hematuria and microscopic hematuria.

How Is the Condition Diagnosed?

Preferred physicians to diagnose the condition would be pediatricians, nephrologists, and urologists. The early stage of diagnosis would be at birth when the parent notices an inverted smile or unusual facial expression. The parents are advised not to ignore these symptoms and immediately get help from a healthcare professional. This will help in early diagnosis.

Investigations that can be used:

• Intravenous Pyelography: Performed by radiologists, the procedure is an imaging test used to evaluate the kidneys and ureters by injecting a contrast dye into one of the veins.

• X-rays.

• Urodynamic Evaluation: Testing is done to check for the functioning of the parts of the urinary tract, such as the bladder, sphincter, and urethra. Focuses on the ability of the bladder to hold urine.

• Molecular Genetic Testing: Done to look for gene mutations in case of HPSE2 or LRIG2.

Evaluations are done for diagnosis and assessment:

• Urine analysis.

• Urine culture.

• Renal function test: GFR (glomerular filtration rate) and serum creatinine concentration.

• Uroflowmetry: This test helps evaluate the volume and speed of the urine passed. It is a simple procedure done using a device called flowmetry.

• Bowel emptying assessment.

• Ophthalmologic evaluation.

What Are the Treatment Modalities?

Treatment of Ochoa syndrome is mainly symptom-based; the evaluated symptoms are given conservative treatment. However, early diagnosis can help in avoiding further complications.

1. Treatment for Urinary Tract Problems: Antibiotic prophylaxis after urine culture for urinary tract infection and urosepsis (a condition in which the urinary tract infection spreads to the kidney). Use of anticholinergic and alpha one adrenergic drugs in cases of bladder dysfunction and urinary incontinence.

Other relevant modalities involve:

• Vesicostomy: A procedure usually performed in infants and young children where an opening is made near the abdomen to drain urine.

• Intermittent Catheterization: A catheter is surgically passed through the skin into the bladder to empty the bladder.

These procedures help reduce infections and the volume of the residual volume.

2. Bowel Management: General management of constipation is done by lifestyle changes and medications such as laxatives to ease the passage of stool.

3. Nocturnal lagophthalmos: Ophthalmologists will prescribe lubricants to protect the cornea from further damage.

4. Genetic Counseling: People can be given genetic counseling when there is an affected family member to prevent complications and ensure treatment at the earliest. Evaluation of family members for gene markers. Siblings of an affected member have a 25% chance of having the syndrome. Early detection during pregnancy can be done by prenatal testing and preimplantation genetic testing. Fetal ultrasonography is used to check for mega cystitis and renal pelvis dilatation. Nephrotoxic substances should be avoided as a preventive measure for individuals affected by renal impairment.

Conclusion

Ochoa syndrome is a genetically inherited syndrome mainly affecting an individual's urinary tract and facial expression. Although several approaches are available, the treatment approach is mainly conservative, where the signs and symptoms are managed. However, early diagnosis may help in better preventive care and prevention of complications like kidney failure and urinary tract deterioration.