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Table 1 Results of laboratory investigations in the proband and the mother

From: Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature

Test Values in the child Values in the mother Reference range
Serum corrected calcium (mmol/L) 1.6 1.8 2.1–2.54
Serum phosphate (mmol/L) 2.71 mmol/L 1.91 0.18–1.45
Serum magnesium (mmol/L) 0.65 mmol/L 0.62 0.66–0.95
Parathyroid hormone (PTH) (pg/mL) 7.1 and 9.2 6.8 7.5–53.5
24-h urinary calcium (mmol/day) 1.348; adjusted
0.0385 mmoL/kg/day
3.360; adjusted
0.0412 mmoL/kg/day
normal up to
0.06 mmoL/kg/day
Total 25-hydroxy vitamin D (ng/mL) 25.4 15.1 30–100
Serum creatinine (μmol/L) 65 246 88–115
Blood urea (mmol/L) 4.6 11.2 2.5–7.1
Serum potassium (mmol/L) 4.0 4.8 3.5–4.5
Serum sodium (mmol/L) 137 140 135–147
ALP (IU/L) 150 68 44–147
Urine full report and cytology Normal
No active sediment
Normal
No active sediment
 
Renal sonography Normal sized, symmetric kidneys Bilateral chronic renal parenchymal disease  
  1. ALP Alkaline phosphatase