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Nail patella syndrome
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Nail patella syndrome can be recognized by its characteristic nail dystrophy and symmetrical skeletal abnormalities. Proteinuric renal disease is a variable part of the syndrome, usually mild but causing end-stage renal failure in up to 10%. An association with glaucoma has been recognized and this should be screened for. Underlying gene mutations are in a LIM homeodomain-containing transcription factor LMX1B, which seems to influence production of basement membrane proteins and other podocyte gene products.
Title: Nail patella syndrome
Description:
Nail patella syndrome can be recognized by its characteristic nail dystrophy and symmetrical skeletal abnormalities.
Proteinuric renal disease is a variable part of the syndrome, usually mild but causing end-stage renal failure in up to 10%.
An association with glaucoma has been recognized and this should be screened for.
Underlying gene mutations are in a LIM homeodomain-containing transcription factor LMX1B, which seems to influence production of basement membrane proteins and other podocyte gene products.
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