Table 1 Clinical and laboratory characteristics of the patient at diagnosis of SDS (2 years), diagnosis of liver disease (12 years), diagnosis of HPS (15 years), liver transplantation (18 years) and at the present follow-up
Age 2 | Age 12 | Age 15 | Age 18 Liver transplant | Age 22 | |
|---|---|---|---|---|---|
Height | 74.6 cm (< 3° %ile) | 129 cm (< 3° %ile) | 135 cm (< 3° %ile) | 140 cm (< 3° %ile) | 141 cm (< 3° %ile) |
Weight | 7.6 kg (< 3° %ile) | 21 kg (< 3° %ile) | 30 kg (< 3° %ile) | 41 kg (< 3° %ile) | 44.2 kg (< 3° %ile) |
CMV-PCR | NA | Negative | Negative | Negative | Negative |
SatO2 at rest | 100% | 99% | 88% | 79% | 99% |
PaO2 arterial blood gas in room air | 115 mmHg | NA | 50 mmHg | 35 mmHg | NA |
A-a gradient in room air | -6 mmHg | NA | 61 mmHg | 75 mmHg | NA |
White blood count | 8400/uL (5500-15,500) | 3000/uL (4500-13,000) | 1390/uL (4000-10,000) | 1500/uL (4000-10,000) | 4000/uL (4000-10,000) |
Neutrophils | 2200/uL (1500-9000) | 1000/uL (1800-8000) | 400/uL (2500-7800) | 400/uL (2500-7800) | 1400/uL (2500-7800) |
Hemoglobin | 13.9 g/dL (11.5-13.5) | 10.9 g/dL (12-16) | 9.4 g/dL (12-16) | 10.4 g/dL (12-16) | 16 g/dL (12-16) |
Platelets | 307,000/uL (100000-450,000) | 48,000/uL (150000-450,000) | 23,000/uL (150000-450,000) | 19,000/uL (150000-450,000) | 153,000/uL (150000-450,000) |
Lymphocytes | 4700/uL (1700-6900) | 1700/uL (1200-3600) | 840/uL (1200-3600) | 800/uL (1200-3600) | 1290/uL (1200-3600) |
T cells (CD3+) | NA | NA | 768/uL (800-3500) | NA | 1060/uL (798-2823) |
B cells (CD19+) | NA | NA | 49/uL (200-600) | NA | 120/uL (82-476) |
NK cells (CD56+) | NA | NA | 22/uL (70-1200) | NA | 79/uL (66-745) |
IgG | NA | 15.60 g/L (5.30-13) | 14.60 g/L (5.76-12.65) | 12.20 g/L (7.51-15.60) | 9.10 g/L (7.51-15.60) |
IgA | NA | 3.23 g/L (0.60-2.70) | 4.11 g/L (0.81-2.32) | 4.10 g/L (0.82-4.53) | 3.19 g/L (0.82-4.53) |
IgM | NA | 0.85 g/L (0.43 - 1.73) | 0.67 g/L (0.30-1.59) | 1.13 g/L (0.46-3.04) | 0.47 g/L (0.46-3.04) |
AST | 166 U/L (5-37) | 46 U/L (≤ 32) | 32 U/L (≤ 32) | 27 U/L (≤ 32) | 23 U/L (≤ 31) |
ALT | 187 U/L (5-37) | 15 U/L (≤ 31) | 20 U/L(≤ 31) | 19 U/L (≤ 31) | 14 U/L (≤ 31) |
Gamma GT | 27 U/L (7-32) | 69 U/L (≤ 35) | 13 U/L (≤ 35) | 13 U/L (≤ 35) | 7 U/L (≤ 40) |
Total bilirubin | 0.43 mg/dL (0.2-1) | 1.58 mg/dL (≤ 1) | 3.79 mg/dL (≤ 1) | 5.17 mg/dL (≤ 1) | 0.38 mg/dL (≤ 1.18) |
INR | NA | 1.3 | 1.5 | 1.3 | 1 |
Albumin | 45 g/L (32-52) | 38 g/L (35-52) | 35 g/L (35-52) | 37 g/L (35-52) | 39 g/L (35-52) |