Nail Patella Syndrome - Causes, Symptoms and Treatment Tips

Nail Patella Syndrome is a unusual genetic disorder involving nail and skeletal deformities (among a host of other related anomalies) which develops in about 2.2 out of every 100,000 people. Nail Patella Syndrome (also called Fong's Disease, Hereditary Onycho-Osteodysplasia is characterized by several typical abnormalities of the arms and legs as well as kidney disease and glaucoma. It has been orthodoxed as a hereditary condition for over 100 years and is inherited in an autosomal dominant manner.

Symptoms of Nail Patella Syndrome

There isn't a exact period to presentation of NPS signs and symptoms, although it is much more common during childhood. They can be identify in two different systems : 1- Musculoskeletal and 2- Renal.

Musculoskeletal includes the following symptoms

• Nails. They are dystrophic in 80-90% of all NPS. Frequently, nails are absent, but when they are present some abnormalities can be found: discolored nails, koilonychia, longitudinal ridges, triangular lunulae.
• Knees Patella is absent or hypoplastic in 60% of all NPS. A lateral displacement on knee flexion (knock-knee deformity) can be found.
• Elbows Abnormalities aren't so common, but aplasia, hypoplasia, posterior process at distal ends of humerus with a increased carrying angle with limited extension and suppination.

Renal includes the following Symptoms

• Major Renal Manifestations are microscopic hematuria, minimal or nephrotic proteinuria, edema ,and hypertension.
• Minor Renal Manifestations are renal stones and congenital malformations as vesicoureteral reflux, atrophy, hypoplasia, and duplications.
• Complications from renal manifestations include nephrotic and nephritic syndrome , and chronic renal failure.

Causes of Nail Patella Syndrome

• NPS is known to be an autosomal dominant hereditary disease.
• A genetic abnormality is supposed to lead to variated connective tissue metabolism with widespread structural defects in collagen.
• Abnormal collagen deposition in the glomeruli probably causes the nephropathy associated with NPS.

Treatment of Nail Patella Syndrome

The treatment for nps and glaucoma depends upon the nature and stringency of each case. The Treatment of Nail Patella Syndrome are includes the following

• No treatment is available for the cutaneous findings.
• Associated abnormalities require appropriate care from specialists.
• Though more than 90% of patients with NPS have patellar embranglment, most patients are asymptomatic and rarely need surgical treatment.
• Congenital permanent dislocation of the patella (CPDP) should be treated with surgical procedures. Preferably, orthopedic correction should be done when the patient is aged nearly 2-3 years to prevent secondary deformities and growth-related disability.
• Multi-system genetic disorder its treatment based upon the nature, condition and severity of each individual and is not likely to cure glaucoma but it can be controlled with pills, eye drops, laser procedures or surgical operations.
• Severe kidney disease is treated with dialysis or a kidney transplant. Patients receiving kidney transplant do not generate nail-patella type renal complications in their new kidney.

Bookmark This Page:

If you like this page, please post it on: