From: Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report
General blood test | Result | Normal Range |
---|---|---|
Hemoglobin (g/dL) | 12 | 12–15.5 |
Leukocytes ×10(9)/L | 6.6 | 3.5–10.5 |
Platelet ×10(9)/L | 352 | 150–450 |
Sodium (mmol/L) | 143 | 135–145 |
Potassium (mmol/L) | 5.4 | 3.6–5.2 |
Bicarbonate (mmol/L) | 25 | 22–29 |
Chloride (mmol/L) | 105 | 98–107 |
Creatinine (mg/dL) | 1.9 | 06–1.1 |
Blood urea nitrogen (mg/dL) | 41 | 6–21 |
Albumin (g/dL) | 3.6 | 3.5–5 |
Calcium (mg/dL) | 9.1 | 8.9–10.1 |
Glucose (mg/dL) | 98 | 70–100 |
Phosphorus (mg/dL) | 4.7 | 2.5–4.5 |
C-reactive protein | < 3.0 | < 8.0 |
PTH (pg/mL) | 79 | 15–65 |
Total cholesterol (mg/dL) | 361 | < 200 |
Triglycerides (mg/dL) | 283 | < 150 |
Hepatitis B and C | Negative | Negative |
Monoclonal protein | Negative | Negative |
Fabry disease studies | Result | Normal Range |
Alpha-Galactosidase, Leukocytes (nmol/h/mg) | 35.3 | > 23.1 |
Alpha-Galactosidase, Plasma (U/L) | 0.17 | 0.074–0.457 |
Ceramide Trihex and Sulfatide, Urine | not detectable | not detectable |
Gb3, Plasma (ug/mL) | 6.5 | < 7.5 |
Gb3, Urine (mg/mmol/Cr) | 0.031 | < 0.03 |
Lyso-Gb3, Plasma (ng/mL) | 0.4 | < 1.8 |
Lyso-Gb3, Urine (ng/mmol/Cr) | 6.8 | not detectable |
Urine studies | Result | Normal Range |
Hemoglobin, qualitative | Small | negative |
Red blood cells | < 3 | < 3 /HPF |
White blood cells | 4–10 | 1–10 < HPF |
Casts, hyaline/LPF | occasional | not detectable |
Fatty casts/LPF | occasional | not detectable |
24 h proteinuria (mg) | 6162 | < 167 |