Case Report
Two Cases of the MYH9 Disorder Fechtner Syndrome Diagnosed from Observation of Peripheral Blood Cells before End-Stage Renal Failure
Table 1
Clinical characteristics, blood and urinary analysis of these cases.
| | Case 1 | Case 2 | Reference range |
| | Height (cm) | 173 | 164 | | | Weight (kg) | 79.2 | 64.1 | | | BMI (kg/m2) | 26.5 | 23.8 | |
| | Urinary analysis | | pH | 6.0 | 5.0 | 5.0–7.5 | | Specific gravity | 1.003 | 1.019 | 1.005–1.030 | | Protein (g/day) | 1.5 | 0.02 | negative | | Urine occult blood reaction Cast | 1+ fatty cast, epithelial cast and granular cast | Negative hyaline cast, epithelial cast and granular cast | Negative negative |
| | Blood analysis | | White blood cell (/μL) | 4,300 | 4,000 | 3,300–8,600 | | Red blood cell (×106/μL) | 3.00 | 4.38 | 4.30–5.60 | | Hemoglobin (g/dL) | 9.8 | 13.6 | 13.5–17.0 | | Hematocrit (%) | 29.9 | 40.9 | 40.0–51.0 | | Platelet counts (×104/μL) | 8.2 | 8.7 | 15.0–35.0 | | Mean platelet volume (fL) | 11.5 | 13.2 | 6.8–9.4 | | Bleeding time (minutes) | 1 | 1 | 1–5 | | Sodium (mEq/L) | 141 | 143 | 143 | | Potassium (mEq/L) | 4.7 | 4.2 | 3.6–5.0 | | Chloride (mEq/L) | 109 | 109 | 98–108 | | Calcium (mg/dL) | 8.7 | 8.9 | 8.2–10.2 | | Phosphorus (mg/dL) | 6.2 | 2.8 | 2.7–4.4 | | Total protein (g/dL) | 7.0 | 6.4 | 6.7–8.3 | | Albumin (g/dL) | 4.1 | 4.4 | 3.8–5.3 | | Blood urea nitrogen (mg/dL) | 78 | 17 | 8–20 | | Creatinine (mg/dL) | 5.91 | 1.24 | 0.36–1.06 | | estimate glomerular filtration rate (eGFR) (mL/min/1.73m2) | 8.8 | 47.6 | | | Hemoglobin A1c (NGSP) (%) | 5.7 | 5.3 | 4.6–6.2 | | Antinuclear antibody | ×40 | <×40 | <×40 |
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