04 November 2022: Articles
Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand
Rare disease
Vachiravit Sriprakoon B , Chalisa Ittagornpunth B , Nakorn Puapaiboon C , Aekasit Bunyahathaipat C , Punnapat Piriyanon B , Sookkasem Khositseth D , Kitiwan Rojnueangnit A*DOI: 10.12659/AJCR.937695
Am J Case Rep 2022; 23:e937695
Table 1. Initial laboratory results.
| Laboratory test | Result | Reference range* | Unit |
|---|---|---|---|
| Hb | 12.1 | 11.5–15.5 | g/dL |
| Hct | 36.1 | 36–48 | % |
| RBC count | 4.71 | 4–6 | 10/uL |
| MCV | 76.6 | 80–95 | fL |
| MCH | 25.7 | 27–34 | pg |
| MCHC | 33.6 | 33–35 | % |
| RDW | 21.3 | 11.5–14.4 | % |
| WBC count | 8.5 | 4–11 | 10/uL |
| Neutrophil | 67.40 | 45–70 | % |
| Lymphocyte | 19.30 | 25–40 | % |
| Monocyte | 12.60 | 2–12 | % |
| Eosinophil | 0.40 | 1–8 | % |
| Basophil | 0.30 | 0–1 | % |
| Platelet count | 219 | 140–440 | 10/uL |
| Na | 132 (↓) | 136–145 | mmol/L |
| K | 4.5 | 3.5–5.1 | mmol/L |
| Cl | 99 | 98–107 | mmol/L |
| CO | 20.5 | 21–32 | mmol/L |
| BUN | 12.35 | 7–18 | mg/dl |
| Cr | 0.82 | 0.6–1.3 | mg/dl |
| Ca | 8.9 | 8.5–10.1 | U/L |
| Po | 2.2 (↓) | 2.5–4.9 | mg/dl |
| Mg | 1.3 (↓) | 1.8–2.4 | mg/dl |
| Total protein | 7.1 | 6.4–8.2 | g/dl |
| Albumin | 3.9 | 3.5–5 | g/dl |
| Globulin | 3.2 | 2.5–3.5 | g/dl |
| Total bilirubin | 0.87 | 0–1 | mg/dl |
| Direct bilirubin | 0.27 | 0–0.2 | mg/dl |
| AST | 64 | 15–37 | U/L |
| ALT | 61 | 12–78 | U/L |
| ALP | 87 | 46–116 | U/L |
| Color | Pale orange | ||
| Sp.gr | 1.012 | ||
| Blood | Negative | ||
| Protein | Negative | ||
| RBC | 1–2 | Cells/HPF | |
| WBC | 3–5 | Cells/HPF | |
| Sq epithelium | 0–1 | Cells/HPF | |
| ESR | 16 | mm/h | |
| ANA | Negative | ||
| Anti dsDNA | Negative | ||
| C3 | 84 | 88–165 | |
| C4 | 24.2 | 14–44 | |
| ASO titer | 200 | IU/mL | |
| Anti-Dnase B | 90.1 | u/mL | |
| TSH | 0.711 | uIU/mL | |
| Free T4 | 1.33 | ||
| Free T3 | 1.73 | ||
| Urine VMA | 7.1 | uIU/mL | |
| * Value is based on our laboratory’s reference range. | |||