Table 2 Results of laboratory analyses conducted for infants included in the case series
From: Characterization of tracheobronchomalacia in infants with hypophosphatasia
Laboratory Measure | Patients Who Received Asfotase Alfa as Part of the ENB-010-10 Study | Patient Who Received Asfotase Alfa Through Compassionate-Use Program | Patient Who Received Asfotase Alfa as Licensed Medication Post-Authorization | ||
|---|---|---|---|---|---|
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | |
Alkaline phosphatase at birth (normal range: 82–383) | Undetectably low | 14 U/L | 18 U/L | Undetectably low | <5 U/L |
Calcium (normal range: 2.25–2.74) | 3.0 mmol/L at birth | 2.9 mmol/L at 4 weeks | 1.3 mmol/L (ionized, normal range: 0.85–1.45) at 8 days | 2.9 mmol/L at 4 weeks | 3.0 mmol/L at birth |
Phosphorus (normal range) | NA | 4.3 mg/dL (2.5–4.5) at 4 weeks | 6.8 mg/dL (2.5–4.5) at 8 days | 2.4 mmol/L (1.8–2.3) at 4 weeks | 2.3 mmol/L (1.8–2.3) at birth |
PLP (B6) (normal range) | NA | >2000 ng/mL (11.8–68.3) at 1 day | NA; PEA 413 μmol/L (0–300) | 4740 ng/mL (11.8–68.3) at 4 weeks | 3940 nmol/L (20–140) |
PPi (normal range: 1.33–5.71) | 9.5 μmol/L at 4 weeks | 10.4 μmol/L at 5 weeks | 7.4 μmol/L at 7 weeks | 9.5 μmol/L at 4 weeks | NA |
ALPL mutation | Homozygous: c.147 G > A, (p.Gly491Arg) secondary to uniparental disomy [12] | Compound heterozygous: c.668 G > A (p.Arg223Gln) and c.1171 C > T (p.Arg391Cys) | Compound heterozygous: c.876_872delAGGGGACinsT and c.650 T > C (p.Val217Ala) | Homozygous: c.1336 G > A (p.Ala466Thr) | Homozygous: c.400_401delinsCA, (p.Thr134His) |