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Related Experiment Videos

[The nail-patella syndrome].

J Slavicek1, R Smalcelj, Z Puretić

  • 1Centar za dijalizu Klinike za urologiju Medicinskog fakulteta Sveucilista u Zagrebu.

Lijecnicki Vjesnik
|May 1, 1992
PubMed
Summary

Nail-patella syndrome (NPS) is an autosomal dominant disorder affecting ectodermal and mesodermal tissues. This case highlights NPS with renal insufficiency diagnosed late in life, with affected family members showing no kidney issues.

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Area of Science:

  • Genetics
  • Nephrology
  • Clinical Medicine

Background:

  • Nail-patella syndrome (NPS), also known as onychoosteodysplasia, is an autosomal dominant hereditary disorder.
  • It affects ectodermal and mesodermal tissues, commonly manifesting in nails, patellae, eyes, and joints.
  • Nephropathy occurs in 30-40% of NPS patients, with renal insufficiency present in 25%.

Observation:

  • A 36-year-old female patient with end-stage renal disease requiring chronic hemodialysis was diagnosed with nail-patella syndrome.
  • The patient's family history revealed 11 affected members, none of whom exhibited clinical signs of nephropathy.

Findings:

  • This case report details a late-onset diagnosis of nail-patella syndrome in a patient with significant renal insufficiency.
  • The observation of unaffected family members underscores the variable penetrance of nephropathy in NPS.

Implications:

  • This case emphasizes the importance of considering nail-patella syndrome in adults presenting with unexplained renal insufficiency.
  • Further research into the genetic and environmental factors influencing NPS-associated nephropathy is warranted.
  • Understanding NPS heterogeneity can improve diagnostic strategies and patient management.

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