Chapter 4 70 or autopsy in which renal tissue was collected between 1978 and 2014. The slides and EM material of the identified cases were requested from the corresponding hospitals. Sections were assessed for specific light microscopic changes and, if available, irregularities on EM. Statistical analyses Baseline characteristics are expressed as mean (± standard deviation [SD]), or as percentage. Groups were matched for age and gender. Difference between groups in sublingual measures and albuminuria was determined using unpaired t-tests. ANOVA was used for side-by-side comparison of PBR in various vessel sizes. Pearson’s correlation coefficient was calculated to assess correlations. Graphpad Prism (version 8.4.2 (GraphPad Software, San Diego, California USA) was used for statistical analyses. p < 0.05 was considered statistically significant. Results Patient Characteristics 20 MO patients responded to the call for our study. 1 patient retracted from the study before performing the site visit. Of the 19 remaining patients, 6 had a confirmed EXT1 (4) or EXT2 (2) mutation and 13 had a clinical diagnosis of MO without mutational confirmation. (62) 27 Controls, of which 19 are age and sex matched, were selected from the general population. No differences were observed in gender, age or body mass index (Table 1). Table 1. Patient characteristics MO patients Healthy controls Subjects 19 19 Age, mean (SD), y 45 (±15.6) 45 (±16.0) Men, n (%) 2 (10.5) 2 (10.5) BMI (SD) 26,0 (± 6.5) 23,4 (± 2.8) Smoking, n (%) 1 (5.3) 1 (5.3) Hypertension, n (%) 4 (21.1) 0 ACE inhibitor, n (%) 2 (10.5) 0 ARB, n (%) 0 0 NSAID use, n (&) 7 (33.3) 3 (14.3) Diabetes, n (%) 2 (10.5) 0 Type 1, n (%) 0 0 Type 2 n (%) 2 (10.5) 0 EXT1 mutation, n (%) 4 (21.1) N/A EXT2 mutation, n (%) 2 (10.5) N/A Mutation unknown, n (%) 13 (68.4) N/A BMI: Body Mass Index, ACE: angiotensin converting enzyme, ARB: angiotensin 2 receptor blocker, NSAID: non-steroidal anti inflammatory drugs, EXT: exostosin
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