August 6, 2020
Twitter Poll (August 5, 2020)
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.
Lemley K. Kidney disease in nail-patella syndrome. Pediatr Nephrol (2009) 24:2345-2354