Unrecognized juvenile nephropathic cystinosis

A 37-year-old man of Syrian descent was referred to our nephrology service because of kidney function impairment (estimated glomerular filtration rate  = 38 ml/min per 1.73 m2 Chronic Kidney Disease Epidemiology Collaboration) of unknown origin. Previously the patient was admitted to the orthopedic ward for surgical therapy of pseudarthrosis after multiple lower extremity fractures from inadequate trauma (Figure 1, pseudarthrosis of the right fe mur), occurring first at the age of 13 years. His medical history also included hypothyroidism.
Source: Kidney International - Category: Urology & Nephrology Authors: Tags: Nephrology Image Source Type: research