Nail patella syndrome: a rare cause of renal failure in a young adult

Abstract

Nail Patella Syndrome (NPS) is a rare hereditary disease affecting multiple systems with predominant involvement of Kidney, Bones and Nails and Eyes. We report a case of NPS which presented as renal failure in a 22 year old male. The patient was admitted with decreased urine output and features of fluid overload and was being evaluated for renal failure. Physical examination revealed associated bony deformities which raised the suspicion of NPS as a possible etiology. This was confirmed by the radiological evaluation which showed the classical features of NPS. Though NPS is a rare clinical condition, physicians should complete knowledge about the components of NPS for appropriate diagnosis and for early detection of other systems involvement.

Keywords

• renal failure
• nail dysplasia
• absent patella