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Twitter Poll (August 5, 2020)

Joel Murphy, MD
By Joel Murphy, MD

Aug 06, 2020

Nail-Patella syndrome, Twitter Poll, Arkana Laboratories

Answer: A, Autosomal recessive inheritance

Nail-Patella syndrome is a rare autosomal dominant disease with an incidence of approximately 1/50,000. The majority of cases are due to a mutation in LMX1B located at chromosome 9q34.1. The gene is important in development as it encodes a transcription factor important in dorsoventral pattern limb development, proper development of the anterior eye, neuron development within the CNS, and podocyte differentiation and maintenance. The kidney pathology is rather non-specific and can show minimal glomerular changes to variable degrees of FSGS with thickened capillary loops. By EM, the classic finding is that of “Moth-eaten” glomerular basement membranes along with collagen fibrils of approximately 60 nm which exhibit periodicity. While there is no specific therapy for this disease, only about 10% of patients will progress to ESRD.

Reference:

Lemley K. Kidney disease in nail-patella syndrome. Pediatr Nephrol (2009) 24:2345-2354

 

 

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Quick note: This post is to be used for informational purposes only and does not constitute medical or health advice. Each person should consult their own doctor with respect to matters referenced. Arkana Laboratories assumes no liability for actions taken in reliance upon the information contained herein.