Summary about Disease
Onycho-osteodystrophy, also known as Nail-Patella Syndrome (NPS), is a rare genetic disorder that affects the development of nails, kneecaps (patellae), bones, and kidneys. The severity of symptoms varies widely among affected individuals, even within the same family. It is a systemic condition, impacting multiple body systems.
Symptoms
The primary symptoms of NPS include:
Nail Abnormalities: Hypoplastic or absent nails, split nails, ridged nails, discoloration, triangular lunulae.
Skeletal Abnormalities: Small or absent kneecaps (patellae), elbow dysplasia (abnormal angle of the elbow joint), iliac horns (bony projections from the iliac bones of the pelvis).
Kidney Disease: Proteinuria (protein in the urine), hematuria (blood in the urine), potentially leading to kidney failure in some individuals.
Other: Glaucoma (increased pressure in the eye), scoliosis (curvature of the spine), irritable bowel syndrome, attention deficit hyperactivity disorder (ADHD).
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 other tissues. It is inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene is needed to cause the disorder. About 10% of cases are caused by new mutations, not inherited from a parent.
Medicine Used
There is no specific cure for Nail-Patella Syndrome. Treatment focuses on managing the symptoms and preventing complications.
Pain Management: Analgesics (pain relievers) for joint pain.
Kidney Disease Management: Medications to control blood pressure and proteinuria, such as ACE inhibitors or ARBs. Dialysis or kidney transplant may be necessary in severe cases of kidney failure.
Glaucoma Management: Eye drops or surgery to lower intraocular pressure.
Orthopedic Management: Physical therapy, braces, or surgery to address skeletal abnormalities.
Nail Care: Topical treatments may be used to manage nail infections or discomfort, but there's no specific medication to correct nail deformities.
Is Communicable
No, Nail-Patella Syndrome is not communicable. It is a genetic disorder that is inherited, not caused by an infectious agent.
Precautions
Since NPS is genetic, the "precautions" are geared towards managing symptoms and preventing complications:
Regular Medical Checkups: Frequent monitoring of kidney function, blood pressure, and eye health.
Orthopedic Support: Use of supportive devices like braces for joint instability.
Kidney-Friendly Diet: Follow dietary recommendations from a nephrologist to protect kidney function.
Genetic Counseling: For individuals with NPS who are planning to have children.
Fall Prevention: Measures to reduce the risk of falls due to skeletal abnormalities.
How long does an outbreak last?
Nail-Patella Syndrome is a chronic, lifelong condition. There are no "outbreaks" in the traditional sense. Symptoms may fluctuate in severity over time.
How is it diagnosed?
Diagnosis of NPS is based on:
Clinical Evaluation: Physical examination to assess for characteristic signs and symptoms.
Family History: Gathering information about family members with similar symptoms.
Radiographic Studies: X-rays to evaluate skeletal abnormalities, particularly of the kneecaps, elbows, and pelvis (looking for iliac horns).
Urinalysis: To detect proteinuria or hematuria.
Genetic Testing: Confirmation of the diagnosis through identification of a mutation in the LMX1B gene.
Timeline of Symptoms
The timeline of symptom presentation varies.
At Birth or Early Childhood: Nail abnormalities, skeletal abnormalities (such as small kneecaps) may be apparent.
Childhood/Adolescence: Kidney problems may develop later, often detected by proteinuria. Glaucoma can also present in childhood.
Throughout Life: Symptoms may progress or new problems may arise. Kidney disease can worsen over time. Joint pain can become more pronounced with age.
Important Considerations
Variability: Symptoms can vary widely, even within the same family. Some individuals may have mild symptoms, while others are severely affected.
Kidney Disease Monitoring: Lifelong monitoring of kidney function is essential, as kidney disease can progress slowly and silently.
Multidisciplinary Care: Management of NPS often requires a team of specialists, including nephrologists, orthopedists, ophthalmologists, and geneticists.
Genetic Counseling: Important for family planning purposes to understand the risk of passing the condition to future generations.
Early Intervention: Addressing symptoms early can improve quality of life and prevent complications.