A Rare Genetic Cause of End Stage Renal Disease- Nail Patella Syndrome

Tóm tắt

Hereditary osteo-onchodysplasia syndrome commonly known as nail patella syndrome is an autosomal dominant disorder that manifests with skeletal abnormalities and renal disease. Its incidence is 1 in 50,000 and reported in patients all over world. The renal disease involves glomerular basement membrane (GBM) thickening and rarely proceeds to End stage renal disease (ESRD). It requires histological diagnosis with electron microscopy to differentiate from other disease associated with proteinuria. As no specific treatment is available so management involves early recognition and close  follow up for symptomatic relief of renal as well as skeletal complications. Prevention involves genetic counselling being solely helpful. This case report is of a patient diagnosed with nail patella syndrome with strong family history but rapidly progressed to ESRD and we were not able to proceed for histology.