Case Report
A Novel T55A Variant of Gsα Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis
Table 1
Pertinent laboratory values.
| | Laboratory values | Birth | 7 days | 5 months | Age 10 | Age 11 | Age 11.5 |
| | Na+ (mmol/L) | 116 | 131 (130–145) | 120 (135–145) | 137 (135–145) | 137 (135–145) | — | | Ca++ (mg/dL) | 9.3 | 9.2 (8.0–11.5) | 9.6 (8.0–11.5) | 10.1 (8.8–10.3) | 9.6 (8.8–10.3) | 10.0 (8.8–10.3) | | Phos (mg/dL) | 5.8 | 5.0 (4.2–7.0) | 5.8 (4.2–7.0) | 5.7 (3.0–5.7) | 6.8 (3.0–5.7) | 4.9 (3.0–5.7) | | Vit D 25-OH (ng/mL) | — | — | — | 22 (30–100) | 25 (30–100) | 30 (30–100) | | Serum osmolarity (mmol/kg) | — | 281 (285–310) | 262 (285–310) | 299 (283–301) | 293 (283–301) | — | | Urine osmolarity | — | 258 | 825 (300–1200 mosm/kg) | 984 (300–900 mmol/kg) | 947 (300–900 mmol/kg) | — | | Urine cAMP (nmol/L) | — | — | — | 7.4 (0.5–10.0) | — | — | | PTH (ng/L) | 27 | — | — | — | 57 (12–65) | 20 (12–65) | | Alkaline phosphatase | 106 (<400 units/L) | — | — | — | — | 92.7 (24.2–154.2 mcg/L) | | Plasma renin activity (mg/mL/hr) | — | — | <20 (200–3500) | 0.80 (0.25–5.82) | — | — | | Aldosterone | — | 29 (5–175) | 4.4 (5–90) | — | — | — | | Cortisol (mcg/dL) before and after stimulation | — | 2.67 31.9 (4–26) | — | — | — | — | | TSH | — | 2.13 (mIU/mL) | — | — | — | 0.76 (0.45–4.12 mIU/L) |
|
|
Laboratory values at different points during childhood. indicates values obtained while receiving oral sodium chloride supplementation.
|
