Mainzer-Saldino Syndrome - Causes, Symptoms, Diagnosis, and Treatment

What Is Mainzer-Saldino Syndrome?

• Mainzer-Saldino Syndrome (MSS) is an extremely uncommon disorder, reportedly affecting less than one person per million affected populations.

• MSS influences the eyes, kidneys, liver, and bones. The disorder typically manifests in early childhood, and the rate at which it progresses can vary.

• No other risk factors are known for being diagnosed with Mainzer-Saldino Syndrome besides a family history of the disorder. Autosomal recessive inheritance is the mode of inheritance.

Autosomal Recessive: Autosomal recessive inheritance patterns are traits or disorders when two copies of an abnormal gene are inherited on a non-sex chromosome. There is a 100 percent chance that the mutated genes will be passed on to their offspring if both parents have an autosomal recessive condition. However, suppose only one mutant copy of the gene is passed down through the generations. In that case, the affected individual will carry the gene of the condition but will not exhibit any symptoms.

Who Gets Mainzer-Saldino Syndrome?

• About 20 cases of Mainzer-Saldino syndrome have been reported in the scientific literature, making it a rare genetic condition.

• The specific pervasiveness of the problem has yet to be discovered. However, according to some reports, less than one in one million people are thought to be affected by the condition.

• The disorder typically manifests between the ages of 10 and 14 years old.

• There is no predisposition to any race or ethnicity, and both genders are affected.

What Are the Risk Factors?

Having a family history of Mainzer-Saldino syndrome is a significant risk factor because it is an inherited disorder. However, at this time, no other risk factors have been found. It is essential to know that having a risk factor does not guarantee the development of the condition. The risk of developing a condition for a person is higher when they have a risk factor than when they do not. Certain risk factors have more effect than others.

Also, just because a person does not have a risk factor does not mean they would not get the disease. Therefore, discussing the effect of risk factors with a healthcare provider is always important.

What Causes Mainzer-Saldino Syndrome?

• Mutations in the IFT140 gene cause Mainzer-Saldino syndrome. An autosomal recessive pattern of inheritance governs the condition.

• The IFT140 gene encodes a protein necessary for the formation and proper operation of the cilia under normal conditions. The brain, liver, kidney, and bone cells' structural integrity and function depend on cilia, which are tiny hair-like projections on cell surfaces. Cilia are found on the cells of the retina that detect light and contribute to clear vision.

• The IFT40 gene product is a crucial part of the IFT-A complex, along with other IFT proteins. The IFT particle is made up of IFT-A and IFT-B complexes. To make chemical signaling possible, this complex or particle assembly ensures that molecules are transported within the cilia.

When mutations occur in the IFT140 gene, the following may be noted -

• The resulting protein might differ in form, function, or both.

• IFT-A complex or IFT particle malformation may result from impaired interactions with other IFT proteins.

• As a result, the cilia might not form at all, be in small numbers, or not function at all. Organs with dysfunctional cilia may suffer severe impairments in proper function, resulting in disorder symptoms.

What Are the Signs and Symptoms of Mainzer-Saldino Syndrome?

Many organs and systems may show the signs and symptoms of Mainzer-Saldino syndrome, which are described below:

Signs and symptoms of the skeletal system include -

• Short fingers.

• The abnormal development of rounded bone ends (epiphyses) in the shape of a cone.

• Abnormal thigh bone development.

• Microcephaly, which is an abnormal shape or size of the head caused by premature fusion of the skull bones.

• Short stature.

• Short rib bones that can cause breathing issues and an increased risk of infection.

Signs and symptoms of the eye include -

• Involuntary and rapid eye movements (nystagmus) and blurred vision.

• Loss of peripheral vision (tunnel vision), impaired night vision, or during reduced light conditions (retinitis pigmentosa)

• Cross-eyes.

• Progressively blurred vision.

• Retinal detachment.

Signs and symptoms of the brain include -

• Lack of movement coordination.

• Problems with maintaining equilibrium or balance.

• In general, mild intellect impairment.

Signs and symptoms of the liver include -

• Swelling or enlargement of the liver.

• Formation of scar tissues (fibrosis).

Signs and symptoms of the kidney include -

• Blood or protein in the urine.

• Progressive organ malfunction.

• Increased risk of urinary tract infections.

• Kidney failure.

Other symptoms might include -

• Anemia (lack of healthy red blood cells).

• Hyperkalemia (too much potassium in the blood).

How Is Mainzer-Saldino Syndrome Diagnosed?

Mainzer-Saldino syndrome can be diagnosed using the following tools -

• Assessment of symptoms and complete physical examination.

• Assessment and analysis of family clinical history.

• Imaging tests like X-rays are used to check for abnormalities in the face, skull, fingers, and long bones.

• Blood tests for kidney, liver, and general health.

• Urine tests to check for the presence of blood, and protein, assessing the volume of the urine and infections of the urinary tract.

• Eye exams to check for the accuracy of vision, structural changes in the retina, and any damage to the retina.

Signs and symptoms may be the same for many medical conditions. To achieve a definitive diagnosis, a healthcare provider may ask for additional tests to rule out other clinical conditions.

What Are the Complications of Mainzer-Saldino Syndrome?

Some potential complications of Mainzer-Saldino syndrome include the following -

• Fibrosis, which is inflammation and scarring of the kidney tissue; a disease called nephronophthisis.

• Cysts formation in the kidney.

• Kidney failure, progressive kidney dysfunction, and end-stage kidney disorder.

• Liver fibrosis (scarring).

• Liver enlargement.

• Erratic heartbeats (arrhythmias) due to untreated hyperkalemia.

How Is Mainzer-Saldino Syndrome Treated?

The Mainzer-Saldino syndrome cannot be entirely cured because it has a genetic component. However, for those affected with this condition, their quality of life can be enhanced by timely diagnosis and symptomatic treatment.

The following options are available for treating the symptoms associated with this condition -

• Lenses to correct vision problems.

• Anemia can be treated with medication to increase hemoglobin, like iron tablets.

• Treatment for hyperkalemia with medication like calcium.

• Antibiotics for urinary tract infections.

• Dialysis or renal transplantation for kidney failure or an end-stage renal disorder.

MSS is a very uncommon condition. Various treatment options are being studied to understand better and combat the disorder.

Conclusion:

Currently, no specific treatments are available to cure Mainzer-Saldino syndrome. Symptomatic treatment and regular monitoring of the condition are typically required. In people with Mainzer-Saldino syndrome, the onset, and progression of kidney damage are thought to be crucial to survival. Early determination and brief treatment of MSS can improve the quality of life.