Síndrome de Nail-Patella

Nail-patella syndrome (NPS, aka hereditary osteo-onychodysplasia (HOOD)) is a rare genetic condition characterized by problems with the nails, bones, kidneys, elbows and pelvis. Nails may be missing, underdeveloped or damaged. Kneecaps may be missing or small and weak, prone to fracture. Full extension on the arms and elbows may not be possible, and are also prone to fracture. Protein and blood in the urine may also appear, progressing to kidney disease. People with nail-patella syndrome are also more likely to suffer from glaucoma, poor circulation, irritable bowel syndrome (IBS), osteoporosis, and numbness and tingling in the hands and feet.

Nail patella syndrome is usually caused by a fault in a gene called LMX1B, which is inherited from a parent. This mutation results in the failure to develop nails and patellae, and can cause deformities in the bones, especially the arms, elbows, knees and pelvis.

Common treatments include:

• Screening for kidney disease and glaucoma
• Surgery, intensive physiotherapy, or genetic counseling.
• ACE inhibitors for the treatment of proteinuria and hypertension in NPS patients.
• Dialysis and kidney transplant.
• Physical therapy, bracing and analgesics for joint pain

Those with NPS ought to avoid long-term use of non-steroidal anti-inflammatory drugs (NSAIDs), as they can damage the kidneys.

Medical cannabis can help treat many of the health problems associated with NPS, such as glaucoma, IBS and osteoporosis. There is no evidence on whether or not medical cannabis can treat NPS directly, but it is certainly helpful for symptoms associated with it. Medical cannabis is also an ideal alternative to NSAIDs and more powerful analgesics.

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