Ramzi Khalil

Chapter 4 72 EXT1/EXT2 mutations do not directly induce proteinuria Analysis of the collected urine samples was performed by matching MO patients to controls based on age and gender. Analysis revealed no difference in ACR nor PCR of patients compared to controls (p=0.13, Figure 2). All MO patients in this study were found to be normoalbuminuric. Five control cases were microalbuminuric and one control case was albuminuric according to the KDIGO CKD guideline (2). No correlation was found between age and ACR or PCR in both patients (r = -0.09 and 0.10 with p = 0.72 and 0.69) and controls (r = -0.24 and -0.19 with p = 0.33 and 0.43 respectively). Figure 2. MO patients are normoalbuminuric (A and B) MO patients do not have a higher albumin-to-creatinin (A) nor a higher protein-to- creatinin ratio (B). p = 0.1251 and p = 0.1282 respectively. Renal morphological change in patients with osteochondromas Searching the Dutch pathological anatomy national automated archive (PALGA) for cases in which both ‘osteochondroma’ and ‘kidney’ are mentioned, resulted in 178 reports from 63 patients. After excluding cases in which no renal tissue was present, slides and EM material from 77 reports out of 39 cases were requested from the corresponding hospitals. We received material from 24 cases. Out of these cases, at least 4 can be classified as having MO based on clinical criteria available in the pathology reports. Genetic data of this cohort is unknown.

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