PMC6899327_01
Upper panels present the control samples; middle panels, case 1 samples; and lower panels, case 2 samples. The May-Giemsa-stained platelets (in the left: original magnification x1000) show giant platelets from the case 1 and 2 samples. In the May-Giemsa-stained neutrophils (in the middle: original magnification x1000), the cytoplasmic inclusion bodies (Dohle-like bodies) in the case 1 and case 2 samples are indicated with arrowheads. The nonmuscle myosin heavy chain-II A (NMMHC-II A) distribution in neutrophils is shown in the immunofluorescence micrographs of the neutrophils (in the right). NMMHC-II A is diffusely distributed in the control neutrophils. Arrowheads represent the accumulation of granular NMMHC-II A in neutrophils of cases 1 and 2.
CRIN2019-5149762.001.jpg
PMC6899327_02_CRIN2019-5149762.001.jpg
fig1
In the peripheral blood smear, thrombocytopenia, giant platelets, and neutrophil inclusion bodies (Dohle-like bodies) were observed using May-Giemsa staining (Figure 1). Immunofluorescence micrographs of neutrophils showed granular accumulation of NMMHC-IIA in the neutrophils (Figure 1).
Family pedigree of our cases and sequence electropherogram of the complementary strand of the MYH9 gene. (a: case 1) Family pedigree of case 1: A1-1 died of tuberculosis at 40 years old. A1-2 died of senility at 90 years old. A1-3 died of gastric cancer at 60 years old. A1-4 had blindness and died of senility at 80 years old. A2-1 had diabetes and was 87 years old. A2-2 died of subarachnoid hemorrhage at 61 years old. A3-1 was case 1. A3-2 was 56 years old. He had thrombocytopenia and renal dysfunction. A4-1 had thrombocytopenia. He died of colon cancer at 29 years old. A4-2 had thrombocytopenia. He was 24 years old. A4-3 had no significant findings. He was 22 years old. (b: case 2) Family pedigree of case 2. B1-1, B1-2, and B1-3 died from senility at around 80 years old. B1-4 died at 60 years old. The cause of her death was unclear. B2-1 died at 62 years old. The cause of his death was unclear. B2-2 had hearing loss. He died of cerebral infarction at 84 years old. B2-3 had hypertension and died from senility at 90 years old. B3-1 was 65 years old. He had no significant findings. B3-2 was case 2. B3-3 had a gallstone. He was 62 years old.
CRIN2019-5149762.002.jpg
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fig2
His mother had hypertension from the age of 50 years (Figure 2(b)). Subsequent genetic mutation analysis revealed p.E1084del mutation (c.3250_3252delGAG) in MYH9 exon 24 (Figure 2(b)).
PMC6899327_02
Upper panels present the control samples; middle panels, case 1 samples; and lower panels, case 2 samples. The May-Giemsa-stained platelets (in the left: original magnification x1000) show giant platelets from the case 1 and 2 samples. In the May-Giemsa-stained neutrophils (in the middle: original magnification x1000), the cytoplasmic inclusion bodies (Dohle-like bodies) in the case 1 and case 2 samples are indicated with arrowheads. The nonmuscle myosin heavy chain-II A (NMMHC-II A) distribution in neutrophils is shown in the immunofluorescence micrographs of the neutrophils (in the right). NMMHC-II A is diffusely distributed in the control neutrophils. Arrowheads represent the accumulation of granular NMMHC-II A in neutrophils of cases 1 and 2.
CRIN2019-5149762.001.jpg
PMC6899327_02_CRIN2019-5149762.001.jpg
fig1
In the peripheral blood smear, thrombocytopenia, giant platelets, and neutrophil inclusion bodies (Dohle-like bodies) were observed using May-Giemsa staining (Figure 1). Immunofluorescence micrographs of neutrophils showed granular accumulation of NMMHC-IIA in the neutrophils (Figure 1).
Family pedigree of our cases and sequence electropherogram of the complementary strand of the MYH9 gene. (a: case 1) Family pedigree of case 1: A1-1 died of tuberculosis at 40 years old. A1-2 died of senility at 90 years old. A1-3 died of gastric cancer at 60 years old. A1-4 had blindness and died of senility at 80 years old. A2-1 had diabetes and was 87 years old. A2-2 died of subarachnoid hemorrhage at 61 years old. A3-1 was case 1. A3-2 was 56 years old. He had thrombocytopenia and renal dysfunction. A4-1 had thrombocytopenia. He died of colon cancer at 29 years old. A4-2 had thrombocytopenia. He was 24 years old. A4-3 had no significant findings. He was 22 years old. (b: case 2) Family pedigree of case 2. B1-1, B1-2, and B1-3 died from senility at around 80 years old. B1-4 died at 60 years old. The cause of her death was unclear. B2-1 died at 62 years old. The cause of his death was unclear. B2-2 had hearing loss. He died of cerebral infarction at 84 years old. B2-3 had hypertension and died from senility at 90 years old. B3-1 was 65 years old. He had no significant findings. B3-2 was case 2. B3-3 had a gallstone. He was 62 years old.
CRIN2019-5149762.002.jpg
PMC6899327_02_CRIN2019-5149762.002.jpg
fig2
His mother had hypertension from the age of 50 years (Figure 2(b)). Subsequent genetic mutation analysis revealed p.E1084del mutation (c.3250_3252delGAG) in MYH9 exon 24 (Figure 2(b)).
Electron microscopy image of a renal history obtained by percutaneous needle biopsy from case 2 (original magnification x12000). Normal podocytes and a slit diaphragm are shown (a). In the other field, focal effacement of podocytes and loss of the interpodocyte slit diaphragm are indicated by arrowheads (b).
CRIN2019-5149762.003.jpg
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fig3
However, on electron microscopy, focal effacement of podocytes and loss of the interpodocyte slit diaphragm were observed (Figure 3).