TY - JOUR
T1 - Nail patella syndrome
T2 - A rare cause of renal failure in a young adult
AU - Senguttuvan, Nagendra Boopathy
AU - Sivaraman, Arjun
AU - Kandasamy, Devasenathipathy
AU - Marimuthu, Kanniraj
PY - 2011
Y1 - 2011
N2 - 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.
AB - 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.
KW - Absent patella
KW - Nail dysplasia
KW - Renal failure
UR - http://www.scopus.com/inward/record.url?scp=84856316971&partnerID=8YFLogxK
U2 - 10.4314/pamj.v9i1.71207
DO - 10.4314/pamj.v9i1.71207
M3 - Article
C2 - 22145064
AN - SCOPUS:84856316971
SN - 1937-8688
VL - 9
JO - Pan African Medical Journal
JF - Pan African Medical Journal
ER -