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Table 1 Main laboratory examination indexes of the proband

From: Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3

 

index

analytical finding

reference range

Urinalysis

pH value

7.0

5.0–9.0

SG

urine protein

1.021

2 + 

1.005–1.030

negative

urinary occult blood

negative

negative

 

the ratio of urineprotein/creatinine

albumin

2.018

29.4 g/L

 < 0.03

35-50 g/L

Biochemical results

urea nitrogen

Creatinine

eGFR

triglycerides

cholesterol

uric acid

3.18 mmol/L

29umol/L

 > 120 ml/min.173m2

3.71 mmol/L

7.52 mmol/L

257 mmol/L

2.6–7.5 mmol/L

41-81umol/L

0.4–1.82 mmol/L

3.1–5.2 mmol/L

155-357 mmol/L

Thyroid function

thyroid-stimulating hormone

free triiodothyronine

free thyroxine

15.244mIU/L

0.89pmo/L

3.46 pmol/L

0.64–6.27mIU/L

5.1–7.4 pmol/L

11.1–18.1 pmol/L