Summary about Disease
Nail-Patella Syndrome (NPS), also known as hereditary onycho-osteodysplasia (HOOD), is a rare genetic disorder that affects the development of nails, kneecaps (patellae), bones, and kidneys. The severity of the symptoms varies greatly from person to person, even within the same family.
Symptoms
The symptoms of Nail-Patella Syndrome can include:
Nail abnormalities: Small, split, ridged, or missing nails. The thumb nail is typically most affected.
Absent or underdeveloped kneecaps (patellae). They may be dislocated or easily dislocatable.
Elbow abnormalities: Limited range of motion, webbing.
Iliac horns: Bony projections that grow from the back of the iliac bones of the pelvis. These are virtually diagnostic of NPS.
Kidney problems: Proteinuria (protein in the urine), hematuria (blood in the urine), kidney failure in some cases.
Skeletal abnormalities: Scoliosis (curvature of the spine), hip dysplasia, foot deformities.
Glaucoma: Elevated pressure in the eyes.
Causes
Nail-Patella Syndrome is caused by a mutation in the LMX1B gene, located on chromosome 9q34. This gene provides instructions for making a protein that is important for the development of limbs, kidneys, and eyes. The mutation is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to cause the disorder. In some cases, NPS may arise from a new mutation (de novo) in the *LMX1B* gene and occur in people with no prior family history of the disorder.
Medicine Used
There is no specific cure for Nail-Patella Syndrome. Treatment focuses on managing the symptoms and preventing complications. Medicines used may include:
Pain relievers: To manage joint pain.
ACE inhibitors or ARBs: To manage proteinuria and protect kidney function.
Glaucoma medications: Eye drops or other medications to lower eye pressure.
Other medications: May be prescribed to manage other specific symptoms or complications.
Is Communicable
No, Nail-Patella Syndrome is not communicable. It is a genetic disorder, meaning it is caused by a gene mutation and cannot be spread from person to person.
Precautions
While there are no specific precautions to prevent Nail-Patella Syndrome (as it's genetic), management and monitoring are key:
Regular medical checkups: Important for monitoring kidney function, eye health, and any other related symptoms.
Genetic counseling: Recommended for individuals with NPS who are planning to have children.
Protective gear: May be needed during sports or activities to protect joints from injury.
Healthy lifestyle: Maintain a healthy diet and exercise regimen as tolerated to support overall health and manage weight, which can put strain on joints.
How long does an outbreak last?
Nail-Patella Syndrome is a chronic condition, not an outbreak. It is present from birth, although some symptoms may not become apparent until later in life. The symptoms persist throughout a person's life, although the severity can fluctuate.
How is it diagnosed?
Diagnosis of Nail-Patella Syndrome is typically based on a combination of:
Physical examination: Evaluating the presence of characteristic symptoms such as nail abnormalities, knee problems, and elbow deformities.
X-rays: To visualize skeletal abnormalities, such as absent or underdeveloped patellae and iliac horns.
Urinalysis: To check for proteinuria or hematuria.
Genetic testing: To confirm the diagnosis by identifying a mutation in the LMX1B gene.
Family history: Evaluation of family history of the disease.
Timeline of Symptoms
Nail-Patella Syndrome symptoms can appear at different ages.
At Birth/Infancy: Nail abnormalities may be apparent from birth. Kidney problems can sometimes be present early on. Hip dislocations may also be present.
Childhood: Skeletal abnormalities (kneecap issues, elbow problems) often become noticeable during childhood as the child grows and develops. Scoliosis may also appear.
Adolescence/Adulthood: Kidney problems, if not previously detected, can manifest in adolescence or adulthood. Glaucoma can also develop later in life. The severity of symptoms may fluctuate throughout life.
Important Considerations
Variability: The severity of Nail-Patella Syndrome varies significantly, even within the same family. Some individuals may have mild symptoms, while others may experience more significant complications.
Kidney involvement: Regular monitoring of kidney function is crucial due to the risk of kidney disease.
Multidisciplinary care: Management often requires a team of specialists, including a nephrologist, orthopedist, ophthalmologist, and geneticist.
Genetic counseling: Important for families with NPS to understand the inheritance pattern and recurrence risk.
Prognosis: The long-term outlook depends on the severity of symptoms and the effectiveness of management. With proper care, many individuals with NPS can live full and productive lives.