Table 1.
Genetic analysis of the 75 MYH9-RD patients described in this study.
Table 2.
Basic clinical features of the 75 MYH9-RD patients described in this study.
Table 3.
Demographic characteristics of the study populations.
Table 4.
Prevalence of liver enzyme alterations in the analyzed patient populations.
Table 5.
Results of follow-up of 29 MYH9-RD patients with alterations of liver enzymes.
Figure 1.
Frequency of abnormal liver tests depending on the location of the MYH9 gene mutation.
Mutations involving the motor domain and tale domain regions of the gene are indicated. No significant differences in the distribution of liver test alteration between the two locations of the gene defect were evident.
Table 6.
Odds ratio to have aminotransferase elevations in MYH9-RD patients as compared with the three control populations.
Figure 2.
Distribution of liver test levels in the four populations studied.
Data for ALT, AST and GGT distributions are shown.
Figure 3.
Immunohistochemistry for NMMHC-IIA in the liver biopsy from one patient with MYH9-RD.
Liver biopsy from a 10-years-old patient with MYH9-RD caused by the p.T1155A mutation of MYH9 with persistently elevated AST, ALT and GGT. (A, B): Immunohistochemistry for NMMHC-IIA showed a signal (brown, horseradish peroxidase staining) concentrated close to the hepatocytes' plasma membrane. The distribution of NMMHC-IIA was not significantly different from that from a healthy control (C, D). Specimens were counterstained with Meyer's haematoxylin. Scale bars correspond to 10 µm.