Introduction
Marfan syndrome is a genetic condition affecting the connective tissue in different body parts. Connective tissue provides flexibility and strength to structures such as ligaments, bones, muscles, blood vessels, and heart valves. Signs and symptoms vary in severity, time of onset, and rate of progression. Because connective tissue is present throughout the body, Marfan syndrome affects many organs, causing abnormalities in the eyes, heart, blood vessels, joints, and bones.
What Is Marfan Syndrome-Induced Kidney Disease?
Renal lesions found in Marfan syndrome include cystic lesions in the kidney, medullospongiform kidneys (dilation of collecting tubule of kidneys), recurrent kidney stones, and basal glomerular changes. These changes can occur at any time in the lifetime of the person suffering from Marfan syndrome. In Marfan syndrome patients, renal cysts are thought to be acquired lesions that develop as distal tubular diverticula due to weakening of the basement membrane, more likely in older patients or patients with a history of urinary tract obstruction. There is also an increased incidence of renal stones.
What Are the Causes of Marfan Syndrome-Induced Kidney Disease?
In Marfan syndrome, the genes that code for the structure of fibrillin and elastic fibers, the main components of connective tissue, are defective. This gene is called fibrillin-1 or FBN1. In most cases, Marfan syndrome is hereditary. This pattern is called autosomal dominant, meaning it occurs equally in males and females and can be inherited from only one parent of the Marfan syndrome child. People with Marfan syndrome have a 50 percent chance of passing the disorder on to each child. New genetic abnormalities of unknown origin occurred in 25 percent of cases.
Marfan syndrome is also known as a variable expression inherited disorder because not all people with Marfan syndrome have the same symptoms, and some people may have symptoms worse than others. Marfan syndrome is present at birth. However, it may not be diagnosed until teenage or young adulthood. The main organs that Marfan syndrome affects are the heart, skin, eyes, skeletal system, and organs.
What Are the Risk Factors of Marfan Syndrome-Induced Kidney Disease?
The primary risk factor known is having a parent with Marfan syndrome. People with Marfan syndrome have a 50 percent chance of the condition passing on to their children. However, one in four people with Marfan syndrome develop the disease due to a spontaneous genetic mutation.
What Are the Symptoms of Marfan Syndrome-Induced Kidney Disease?
Marfan syndrome is very mild, and people may immediately have few or no symptoms at all. In most cases, symptoms become apparent as connective tissue changes with age. Mentioned below are a few symptoms of Marfan syndrome:
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Severe, stabbing pain in the side, back, or under the ribs.
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Pain that moves towards the lower abdomen and groin.
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Pain that comes and goes in waves and varies in intensity.
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Pain or burning sensation when urinating.
Other signs and symptoms are:
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Pink, red, or brown urine.
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Cloudy or foul-smelling urine.
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Increased need to urinate constantly, more often than usual, or having a need to urinate in small amounts.
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Nausea and vomiting.
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Fever and chills if an infection is present.
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Dull pain in the back.
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Fever.
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Upper stomach pain.
What Are the Possible Complications of Marfan Syndrome-Induced Kidney Disease?
The possible complications of Marfan syndrome-induced kidney disease are mentioned below:
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Infected Cyst - Infected kidney cysts may cause fever and pain.
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Ruptured Cyst - A ruptured kidney cyst causes severe back pain or pain in either side of the lower back. If the cyst ruptures, blood may be present in the urine.
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Blocked Flow of Urine - Kidney cysts that block normal urine flow can cause kidney swelling.
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Sepsis - An infection that spreads through the blood and causes symptoms throughout the body.
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Obstruction - Obstruction of the ureter by stone fragments (the ureter is the tube connecting kidneys to the bladder).
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Injury to the Ureter - The passing of a kidney stone may cause injury to the ureter.
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Urinary Tract Infection (UTI) - Frequent kidney stones and cysts may cause more susceptibility to UTI.
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Bleeding During Surgery - There may be excessive bleeding during surgery for the removal of cysts or stones.
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Pain - Excessive unbearable pain may start in the presence of a kidney stone or cyst.
When to Get Help for Marfan Syndrome-Induced Kidney Disease?
The doctor should be contacted if any of the following symptoms are experienced:
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Pain between ribs and hips, abdomen, or back.
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Fever.
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Frequent and painful urination.
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Bloody or dark urine.
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Nausea.
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Swelling in legs and arms.
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Lethargy.
How Is Marfan Syndrome-Induced Kidney Disease Diagnosed?
Marfan syndrome-induced kidney disease is diagnosed in the following ways:
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Familial History - A complete family history is taken by the physician to identify other heart, skeletal, or eye disorders in relatives.
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Genetic Testing - Tests for mutations in the fibrillin I gene, FBN1. Fibrillin is a building block of microfibrils, a group of proteins that provide strength and elasticity to connective tissue. The gene mutation is found in 90-95 percent of Marfan syndrome patients.
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Ultrasound - An imaging technique that uses sound waves to create images of the internal organs in the body.
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Computed tomography (CT) - X-rays and computers create cross-sectional images of the body. The scan requires the injection of an iodinated contrast agent to distinguish only fluid-filled cysts from solid masses.
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Magnetic Resonance Imaging (MRI) - Using magnets, radio waves, and a computer, images are created from inside the body. They can also be used to tell the difference between fluid-filled cysts and solid masses. MRI does not require an iodine contrast agent and is used in patients with iodine allergies.
How Is Marfan Syndrome-Induced Kidney Disease Treated?
There is currently no cure for Marfan syndrome. However, careful management of the condition can improve the patient's prognosis and prolong life. Advances in the medical and surgical management of children and adults with Marfan syndrome have enabled them to live a life with improved quality, productivity, and longer lives. Marfan syndrome-induced kidney ailment is treated according to the lesion in the kidney and symptoms management.
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Surgical management of cysts and stones in the renal system.
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Close monitoring of the skeletal system, especially in children and adolescents.
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Beta-blockers are used to lower blood pressure and reduce stress on the heart's chamber that contains oxygenated blood.
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Antibiotics and other drugs may be needed before dental or genitourinary procedures to reduce the risk of infection in people with mitral valve prolapse or prosthetic heart valves.
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Lifestyle adjustments, such as avoiding strenuous exercise and contact sports, reduce the risk of damage to the kidneys.
How to Manage Marfan Syndrome-Induced Kidney Disease?
Marfan syndrome can affect many different body parts. Hence, it is important to regularly see a doctor who can address issues in areas of the body that are affected. Mentioned below are some ways which can help in the management of Marfan syndrome:
Follow up - Routine follow-up appointments should include cardiac, vascular, ocular, and skeletal examinations, especially during growth.
Activity - The recommended amount of activity depends on the severity of the disease and its symptoms. Most people with Marfan syndrome can participate in physical and recreational activities. High-intensity team sports, contact sports, and isometric exercises (such as weightlifting) should be avoided if the aorta is enlarged.
Prevention of Kidney Stones - Stones can be prevented from forming by increasing the water intake and low protein diet to keep the load off the kidney.
Conclusion
Having a genetic disorder like Marfan syndrome can be worrying. Although there may be worries about lifestyle changes, medical bills, surgery, and the need for lifelong follow-up care, it is important to get medical care from a healthcare provider with experience in treating Marfan syndrome. Getting accurate information is the right way forward. There may also be concerns about the risks to future children. It may be helpful to get genetic counseling to understand the disease and the risk of passing it on to children.
