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Table 1 Biochemical evaluation

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