Overview of Nail-patella syndrome

Nail-patella syndrome (NPS) is a genetic disorder that causes abnormalities in the nails, and sometimes the knees, elbows and pelvis. NPS is also commonly referred to as Fong’s disease, hereditary onychoosteodysplasia (HOOD), onychoosteodysplasia, or Turner-Kieser Syndrome.

Nearly all individuals with nail-patella syndrome experience abnormalities with their nails, which could be absent, underdeveloped and discolored, ridged, pitted or split. However, some people with NPS will also see have skeletal abnormalities elsewhere. The kneecaps, for example, could be absent, small, irregular shaped or dislocated. The elbows could be angled outward, have abnormal webbing, or not be able to extend fully. Horn-like outgrowths can develop on the pelvis bone. NPS also increases the risk of developing glaucoma because of increased pressure within the eyes and, according to the National Organization for Rare Disorders, 30 to 40% of individuals with NPS will develop kidney disease.

NPS is related to mutations in the LMX1B gene. The mutation is primarily inherited from one affected parent, however, in rare cases, the syndrome develops in people that don’t have the history of the disorder in their family. Imaging tests may allow NPS to be detected prenatally in some cases. Other cases may not be diagnosed until birth or early childhood when nail and other related abnormalities develop.

The treatment approach for NPS can include surgery to replace kneecaps or reconstruct or correct abnormal bones at the knees or elbows. Joint malformations and instability can cause chronic, severe pain, so medications may be used to help manage discomfort. Surgery can also help correct the webbing that can develop at the bend of the elbows. Glaucoma can be treated with medicated eye drops to lower pressure in the eyes. Dialysis or renal transplant may be necessary to address kidney issues.

Findings: Effects of Cannabis on Nail-patella syndrome

Cannabis can help those with nail-patella syndrome by managing pain levels and lowering the risk and progression of glaucoma and kidney disease.

Two major cannabinoids found in cannabis, tetrahydrocannabinol (THC) and cannabidiol (CBD), are effective at lowering both acute and chronic pain levels1,6. Cannabis has even proven effective at significantly lowering pain that has proven refractory to other treatments4,7,13.

Studies have shown that the two cannabinoids are also effective at decreasing intra-ocular pressure, thus lowering the risk and progression opportunities of glaucoma12. In addition, cannabis features neuroprotection and vasodilation properties, which further assist in the conservative treatment of glaucoma11. The cannabinoids activate the cannabinoid receptors located within the eyes, which are responsible for the formation and outflow of aqueous humor and thus control intra-ocular pressure11.

Evidence suggests that cannabis can promote kidney health. Cannabis has been found to have anti-inflammatory properties, which can help the body in fighting off pathogens and facilitating of tissue repair. CBD can significantly lower oxidative stress and therefore is helpful in a variety of diseases, including diabetes, arthritis, atherosclerosis, Alzheimer’s, hypertension and kidney disease3. Cannabis has been found to have a protective effect on the kidneys in mice with kidney disease2. Rats with kidney injuries were treated with cannabis and experienced significantly less kidney damage5.

References:

  1. Baron, E.P. (2015, June). Comprehensive Review of Medicinal Marijuana, Cannabinoids, and Therapeutic Implications in Medicine and Headache: What a Long Strange Trip It’s Been… Headache, 55(6), 885-916. Retrieved from http://onlinelibrary.wiley.com/wol1/doi/10.1111/head.12570/full.

  2. Barutta, F., Piscitelli, F., Pinach, S., Bruno, G., Gambino, R., Rastaldi, M.P., Salvidio, G., Di Marzo, V., Cavallo Perin, P., and Gruden, G. (2011, September). Protective role of cannabinoid receptor type 2 in a mouse model of diabetic nephropathy. Diabetes, 60(9), 2386-96. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3161308/.

  3. Booz, G.W. (2011, September 1). Cannabidiol as an emergent therapeutic strategy for lessening the impact of inflammation on oxidative stress. Free Radical Biology & Medicine, 51(5), 1054-61. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3085542/.

  4. Boychuck, D.G., Goddard, G., Mauro, G., and Orellana, M.F. (2015 Winter). The effectiveness of cannabinoids in the management of chronic nonmalignant neuropathic pain: a systematic review. Journal of Oral & Facial Pain and Headache, 29(1), 7-14. Retrieved from https://goo.gl/R28LWD.

  5. Fouad, A.A., Al-Mulhim, A.S., and Jresat, I. (2012, September 17). Cannabidiol treatment ameliorates ischemia/reperfusion renal injury in rats. Life Sciences, 91(7-8), 284-92. Retrieved from http://www.sciencedirect.com/science/article/pii/S002432051200392X.

  6. Jensen, B., Chen, J., Furnish, T., and Wallace, M. (2015, October). Medical Marijuana and Chronic Pain: a Review of Basic Science and Clinical Evidence. Current Pain and Headache Reports, 19(10), 524. Retrieved from http://link.springer.com/article/10.1007%2Fs11916-015-0524-x.

  7. Lynch, M.E., and Campbell, F. (2011, November). Cannabinoids for treatment of chronic non-cancer pain; a systematic review of randomized trials. British Journal of Clinical Pharmacology, 72(5), 735-744. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3243008/.

  8. Nail-patella syndrome. (2015, September 28). Genetics Home Reference. Retrieved from http://ghr.nlm.nih.gov/condition/nail-patella-syndrome.

  9. Nail Patella Syndrome. (2003). National Organization for Rare Disorders. Retrieved from https://rarediseases.org/rare-diseases/nail-patella-syndrome/.

  10. Naveh, N., Weissman, C., Muchtar, S., Benita, S., and Mechoulam, R. (2000, April). A submicron emulsion of HU-211, a synthetic cannabinoid, reduces intraocular pressure in rabbits. Graefe’s Archive for Clinical and Experimental Ophthalmology, 238(4), 334-8. Retrieved from http://link.springer.com/article/10.1007%2Fs004170050361.

  11. Nucci, C., Bari, M., Spano, A., Corasaniti, M., Bagetta, G., Maccarrone, M., and Morrone, L.A. (2008). Potential roles of (endo)cannabinoids in the treatment of glaucoma: from intraocular pressure control to neuroprotection. Progress in Brain Research, 173, 451-64. Retrieved from http://www.sciencedirect.com/science/article/pii/S007961230801131X.

  12. Pinar-Sueiro, S., Rodriguez-Puertas, R., and Vecino, E. (2011, January). Cannabinoid applications in glaucoma. Archivos de la Sociedad Espanola de Oftalmologia, 86(1), 16-23. Retrieved from http://www.elsevier.es/ficheros/publicaciones/03656691/addon/S036566911000290X/S300/en/296v86n01a90001302pdf001_2.pdf.

  13. Wallace, M.S., Marcotte, T.D., Umlauf, A., Gouaux, B., and Atkinson, J.H. (2015, July). Efficacy of Inhaled Cannabis on Painful Diabetic Neuropathy. Journal of Pain, 16(7), 616-27. Retrieved fromhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5152762/.

  14. Ware, M.A., Gamsa, A., Persson, J., and Fitzcharles, M.A. (2002, Summer). Cannabis for chronic pain: case series and implications for clinicians. Pain Research & Management, 7(2), 95-9. Retrieved from http://downloads.hindawi.com/journals/prm/2002/380509.pdf.

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