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Table 1 Initial blood and urine results taken at 11 months of age

From: Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

Test

Result

Blood

 Sodium

135 mmol/L

(135–145 mmol/L)

 Potassium

5.4 mmol/L

(3.5–5.5 mmol/L)

 Urea

20.9 mmol/L

(2.06.2 mmol/L)

 Creatinine

72 micromol/L

 

 Adjusted calcium

2.58 mmol/L

(2.12.5 mmol/L)

 Phosphate

1.57 mmol/L

(1.3–2.3 mmol/L)

 Bicarbonate

18.8 mmol/L

(2329 mmol/L)

 Magnesium

1.45 mmol/L

(1.62.6 mmol/L)

 Total bilirubin

<5 micromol/L

(<5 micromol/L)

 Alkaline phosphatase

474 IU/L

(110320 IU/L)

 Alanine transferase

21 IU/L

(6–45 IU/L)

 Albumin

43 g/L

(35–50 g/L)

 Ammonia

25 micromol/L

(22–48 micromol/L)

 Lactate

4.8 mmol/L

(0.22.0 mmol/L)

 Parathyroid hormone

114 nanogram/L

(1065 nanogram/L)

Urine

 Urine protein/creatinine

16 mg/mmol

(<50 mg/mmol)

 Urine albumin/creatinine

<1.93 mg/mmol

(<1.93 mg/mmol)

 Urine retinol binding protein

<2.0 mg/L

(<2.0 mg/L)

 Urine amino acids and organic acids

Normal

 

Other

 Cerebrospinal fluid lactate

2.2 mmol/L

0.6–2.2 mmol/L

  1. Abnormal results are highlighted in italics