have asymptomatic proteinuria or microscopic hematuria, less
than 20% of patients progress to nephrotic syndrome and 10%
develop renal failure necessitating dialysis or transplantation.4
In a murine model, the LMX1B gene is expressed in the developing
structures important for aqueous drainage and production
including the anterior segment, the trabecular meshwork and
the ciliary body respectively. Compared to 1-2% of the general
population 40 years or older, approximately 33% of NPS
patients develop the most common type of glaucoma, openangle.
If untreated, patients may develop asymptomatic visual
field loss and ultimately blindness.5
In conclusion, NPS is a relatively rare inherited disorder that
affects bones, eyes, kidneys and nails. Although it usually does
not impact lifespan, NPS may have significant implications regarding
quality of life.
The authors have no conflicts of interest to declare.
- Burghardt T, Kastner J, Suleiman H, et al. LMX1B is essential for the maintenance
of differentiated podocytes in adult kidneys. J Am Soc Nephrol. 2013;24(11):1830-48. doi: 10.1681/ASN.2012080788. Epub 2013 Aug 29.
- Chaturvedi S, Pulimodd A, Agarwal I. Quiz page December 2013: Hypoplastic
nails, bowed elbows, and nephrotic syndrome. Nail-patella syndrome (hereditary
osteo-onychodysplasia, Turner-Keiser syndrome, Fong disease). Am
J Kidney Dis. 2013;62(6):A25-7. doi: 10.1053/j.ajkd.2013.05.027.
- Goshen E, Schwartz A, Zilka LR, et al. Bilateral accessory iliac horns: pathognomonic
findings in Nail-patella syndrome. Scintigraphic evidence on bone
scan. Clin Nucl Med. 2000;25(6): 476-7.
- Paller, Amy and Anthony Mancini. " Disorders of Hair and Nails." Hurwitz Clinical
Pediatric Dermatology. Ed 4. Philadelphia: Elsevier, 2011. Pg 162. Print.
- Park S, Jamshidi Y, Vaideanu D, et al. Genetic risk for primary open-angle
glaucoma determined by LMX1B haplotypes. Invest Ophthalmol Vis Sci. 2009 Apr; 50(4):1522-30. doi: 10.1167/iovs.08-2483. Epub 2008 Oct 24.
- Roeckerath W. Hereditary osteo-onychodysplasia. Fortschr Geb Rontgenstr. 1951;75(6):700-12.
- Towers AL, Clay CA, Sereika SM, et al. Skeletal integrity in patients with nail
patella syndrome. J Clin Endocrinol Metab. 2005; Apr;90(4):1961-5. Epub
2004 Dec 28.
Kristen Lo Sicco MDklosicco@gmail.com