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. 2017 Dec 7;2(23):e92896. doi: 10.1172/jci.insight.92896

Figure 6. Detection of CRELD2 in the urine from human ADTKD-UMOD patients caused by UMOD mutations.

Figure 6

(A) Masson’s trichrome and PAS staining of paraffin kidney sections from ADTKD patients carrying UMOD mutation p.H177-R185 del or p.W202S, as well as from normal kidneys after nephrectomy. Scale bar: 40 μm. Arrowheads indicate tbular dilation, tubular atrophy with tubular basement membrane thickening. Arrow indicates interstitial inflammatory monocyte infiltration. (B) Representative IF images of human renal biopsies obtained from patients with p.H177-R185 del or p.W202S UMOD mutation and from normal kidneys, stained for CRELD2 (green) and uromodulin (red) with a nuclear counterstain (Hoechst 33342, blue). Scale bar: 40 μm. Arrows indicate enrichment of native uromodulin at the apical membrane of TAL cells. (C and D) Crude urine samples from human ADTKD-UMOD patients harboring H177-R185 del (C) or other disease-causing mutations including C106F, D172H, V93-G97delinsAASC, R178P, and G103C (D), as well as from genetically unaffected family members, were analyzed by WB for CRELD2 excretion. The urinary CRELD2 excretion was normalized to 10 μg of urine Cr excretion. The control and patient numbers listed in C–D corresponded to the same numbers in Table 2. (E) Dot plot representation of urine CRELD2/Cr values measured by the ELISA in the above 17 ADTKD-UMOD patients harboring various UMOD mutations and 7 genetically unaffected controls. Data represent mean ± SEM, *P < 0.05 by 2-tailed t test. PAS, periodic acid-Schiff; CRELD2, cysteine-rich with EGF-like domains 2; ADTKD, autosomal dominant tubulointerstitial kidney disease.