PMC6292867_01
PMC6292867_02
Renal histopathological features in Patient 1. (1) Mesangial cells (2-4 mesangial area) proliferation was shown by hematoxylin-eosin stain (x400); (2) One glomeruli was globally sclerotic shown by Periodic acid-Schiff stain (x400). (3) Inflammatory cell infiltration around the renal interstitium shown by periodic acid-silver metheramine stain; (4) Electron microscopy revealed mild mesangial proliferation with less electron dense deposits.
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PMC6292867_02_fmed-05-00347-g0001.jpg
F1
Renal histopathological features of Patient 1 are displayed in Figure 1. The mutation is a de novo truncated variation (Figure 2, Patient 1) and not included in the 1,000 G databases.
CLCN5 NGS verification analysis. A hemizygotic mutation (c. C310T,p.R104X) was found in the patient 1. Another hemizygotic mutation (c. A815G,p.Y272C) was found in the patient 2.
fmed-05-00347-g0002.jpg
PMC6292867_02_fmed-05-00347-g0002.jpg
F2
The mutation is a de novo truncated variation (Figure 2, Patient 1) and not included in the 1,000 G databases. His mother with heterozygous mutations (Figure 2, Patient 2) has not shown any related symptoms.