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 CASE REPORT
Year : 2021  |  Volume : 31  |  Issue : 5  |  Page : 485-487

Retrospective diagnosis of nail-patella syndrome


Department of Nephrology, Institute of Renal Sciences, Global Hospital Parel-12, Mumbai, Maharashtra, India

Correspondence Address:
Dr. Bharat V Shah
35, Dr E Borges Road, Hospital Avenue, Opp Shirodkar High School, Parel, Mumbai, Maharashtra - 400012
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijn.IJN_172_20

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A 37 years old female presented with asymptomatic nephrotic range proteinuria due to focal segmental glomerulosclerosis (FSGS). She was treated with steroids and mycophenolate mofetil to which there was no response and progressed to advanced chronic kidney disease. When her brother who was being evaluated as a potential donor, for renal transplant, was found to have proteinuria and a genetic study for the steroid-resistant nephrotic syndrome was done. This revealed mutation in the LMX1B gene. It is then that a diagnosis of nail-patella syndrome (NPS) was made. She underwent a successful renal transplant with her father as a donor and is doing well.






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Indian Journal of Nephrology
Published by Wolters Kluwer - Medknow
Online since 20th Sept '07