Arthropathy and proteinuria: nail-patella syndrome revisited

Arthropathy and proteinuria: nail-patella syndrome revisited

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[english] Nail-patella syndrome (NPS) is a pleiotropic blue kansas city chiefs hat autosomal-dominant disorder due to mutations in the gene LMX1B.It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities.However, one of the most serious manifestations of NPS is kidney disease, which may be present in up to 40% of affected individuals.Although diagnosis can be made at birth, it is often missed, presumably due to the rarity of the condition.

A 35-year-old female presented to our clinic with history of small joint pain of 6 months duration.In addition she complained of pedal edema off and on for the last 12 years.Prior to her current presentation she had been managed by a local doctor symptomatically.On evaluation, a nephrotic syndrome was obvious, but no secondary cause could be found.

However, her physical examination was characteristic of NPS and keeping in stomahesive protective powder - 1 oz squeeze bottle (3) view the autosomal dominant nature of the disorder all her three siblings were screened who too showed classical features of NPS.This rare syndrome as a cause of nephrotic range proteinuria is discussed in this report.The report underlines the importance of a good physical examination in a given clinical setting.